메뉴 건너뛰기




Volumn 126, Issue 3, 2013, Pages 307-328

Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; BOTULINUM TOXIN; DANTROLENE; FATTY ACID; OXYBUTYNIN; PHOSPHOLIPID; TIZANIDINE;

EID: 84883461543     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1115-8     Document Type: Review
Times cited : (380)

References (256)
  • 1
    • 79958820932 scopus 로고    scopus 로고
    • Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
    • 21620353 1:CAS:528:DC%2BC3MXnsVOrsL0%3D
    • Abou Jamra R, Philippe O, Raas-Rothschild A et al (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 88:788-795
    • (2011) Am J Hum Genet , vol.88 , pp. 788-795
    • Abou Jamra, R.1    Philippe, O.2    Raas-Rothschild, A.3
  • 2
    • 79958820932 scopus 로고    scopus 로고
    • Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
    • Abou-áJamra R, Philippe O, Raas-Rothschild A et al (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 88:788-795
    • (2011) Am J Hum Genet , vol.88 , pp. 788-795
    • Abou-Ájamra, R.1    Philippe, O.2    Raas-Rothschild, A.3
  • 3
    • 0019439707 scopus 로고
    • Organophosphorus ester-induced delayed neurotoxicity
    • 1:CAS:528:DyaL3MXhvVKgsr8%3D
    • Abou-Donia MB (1981) Organophosphorus ester-induced delayed neurotoxicity. Ann Rev Pharmacol Toxicol 21:511-548
    • (1981) Ann Rev Pharmacol Toxicol , vol.21 , pp. 511-548
    • Abou-Donia, M.B.1
  • 5
    • 84868091740 scopus 로고    scopus 로고
    • Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
    • 23109145 1:CAS:528:DC%2BC38Xhs1ShsbrO
    • Al-Saif A, Bohlega S, Al-Mohanna F (2012) Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol 72:510-516
    • (2012) Ann Neurol , vol.72 , pp. 510-516
    • Al-Saif, A.1    Bohlega, S.2    Al-Mohanna, F.3
  • 6
    • 33646710897 scopus 로고    scopus 로고
    • A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
    • 16636240 1:STN:280:DC%2BD283ivFSmtw%3D%3D
    • Al-Yahyaee S, Al-Gazali LI, De Jonghe P et al (2006) A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66:1230-1234
    • (2006) Neurology , vol.66 , pp. 1230-1234
    • Al-Yahyaee, S.1    Al-Gazali, L.I.2    De Jonghe, P.3
  • 7
    • 33646710897 scopus 로고    scopus 로고
    • A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
    • 16636240 1:STN:280:DC%2BD283ivFSmtw%3D%3D
    • Al-Yahyaee S, Al-Gazali LI, De JP et al (2006) A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66:1230-1234
    • (2006) Neurology , vol.66 , pp. 1230-1234
    • Al-Yahyaee, S.1    Al-Gazali, L.I.2    De, J.P.3
  • 8
    • 84855281514 scopus 로고    scopus 로고
    • A nullimorphic ERLIN2 mutation defines a complicated Hereditary Spastic Paraplegia locus (SPG18)
    • 21796390 1:CAS:528:DC%2BC3MXhsVyrsbbJ
    • Alazami AM, Adly N, Al DH, Alkuraya FS (2011) A nullimorphic ERLIN2 mutation defines a complicated Hereditary Spastic Paraplegia locus (SPG18). Neurogenetics 12:333-336
    • (2011) Neurogenetics , vol.12 , pp. 333-336
    • Alazami, A.M.1    Adly, N.2    Al, D.H.3    Alkuraya, F.S.4
  • 9
    • 83555175990 scopus 로고    scopus 로고
    • Recessive mutations in ELOVL4 Cause ichthyosis, intellectual disability, and spastic quadriplegia
    • 22100072 1:CAS:528:DC%2BC3MXhs1Sls7fL
    • Aldahmesh MA, Mohamed J, Alkuraya H et al (2011) Recessive mutations in ELOVL4 Cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 89:745-750
    • (2011) Am J Hum Genet , vol.89 , pp. 745-750
    • Aldahmesh, M.A.1    Mohamed, J.2    Alkuraya, H.3
  • 10
    • 0000033737 scopus 로고
    • Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly
    • Allan W, Herndon CN, Dudley FC (1944) Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325-334
    • (1944) Am J Ment Defic , vol.48 , pp. 325-334
    • Allan, W.1    Herndon, C.N.2    Dudley, F.C.3
  • 11
    • 0018404316 scopus 로고
    • Nerofibrillary degeneration on Guam
    • 427533 1:STN:280:DyaE1M7ks1artQ%3D%3D
    • Anderson FH (1979) Nerofibrillary degeneration on Guam. Brain 102:65-77
    • (1979) Brain , vol.102 , pp. 65-77
    • Anderson, F.H.1
  • 12
    • 62149140219 scopus 로고    scopus 로고
    • SPG11 spastic paraplegia. A new cause of juvenile Parkinsonism
    • 19224311
    • Anheim M, Lagier-Tourenne C, Stevanin G et al (2009) SPG11 spastic paraplegia. A new cause of juvenile Parkinsonism. J Neurol 256:104-108
    • (2009) J Neurol , vol.256 , pp. 104-108
    • Anheim, M.1    Lagier-Tourenne, C.2    Stevanin, G.3
  • 13
    • 77955082781 scopus 로고    scopus 로고
    • Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
    • 1:CAS:528:DC%2BC3cXpsFegsLg%3D
    • Antonicka H, Oÿstergaard E, Sasarman F et al (2010) Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am Journal Hum Genet 87:115-122
    • (2010) Am Journal Hum Genet , vol.87 , pp. 115-122
    • Antonicka, H.1    Oÿstergaard, E.2    Sasarman, F.3
  • 14
    • 84870861262 scopus 로고    scopus 로고
    • Molecular mechanisms in amyotrophic lateral sclerosis: The role of angiogenin, a secreted RNase
    • 23181008
    • Aparicio-Erriu IM, Prehn JH (2012) Molecular mechanisms in amyotrophic lateral sclerosis: the role of angiogenin, a secreted RNase. Front Neurosci 6:167
    • (2012) Front Neurosci , vol.6 , pp. 167
    • Aparicio-Erriu, I.M.1    Prehn, J.H.2
  • 15
    • 42049097275 scopus 로고    scopus 로고
    • A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    • 18200586 1:CAS:528:DC%2BD1cXlslWlsL0%3D
    • Arnoldi A, Tonelli A, Crippa F et al (2008) A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 29:522-531
    • (2008) Hum Mutat , vol.29 , pp. 522-531
    • Arnoldi, A.1    Tonelli, A.2    Crippa, F.3
  • 17
    • 0034637474 scopus 로고    scopus 로고
    • Membrane association of and critical residues in the catalytic domain of human neuropathy target esterase
    • 10816586 1:CAS:528:DC%2BD3cXlsl2jsrg%3D
    • Atkins J, Glynn P (2000) Membrane association of and critical residues in the catalytic domain of human neuropathy target esterase. J Biol Chem 275:24477-24483
    • (2000) J Biol Chem , vol.275 , pp. 24477-24483
    • Atkins, J.1    Glynn, P.2
  • 18
    • 0344736798 scopus 로고    scopus 로고
    • Loss of m-AAA protease in mitochondria causes complex i deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
    • 14623864 1:CAS:528:DC%2BD3sXpsVCltrc%3D
    • Atorino L, Silvestri L, Koppen M et al (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163:777-787
    • (2003) J Cell Biol , vol.163 , pp. 777-787
    • Atorino, L.1    Silvestri, L.2    Koppen, M.3
  • 19
    • 20044381663 scopus 로고    scopus 로고
    • Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
    • 15732094 1:CAS:528:DC%2BD2MXivVymtr0%3D
    • Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H et al (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 57:415-424
    • (2005) Ann Neurol , vol.57 , pp. 415-424
    • Auer-Grumbach, M.1    Schlotter-Weigel, B.2    Lochmuller, H.3
  • 20
    • 23044489756 scopus 로고    scopus 로고
    • The Troyer syndrome (SPG20) protein spartin interacts with Eps15
    • 16036216 1:CAS:528:DC%2BD2MXntVOisLY%3D
    • Bakowska JC, Jenkins R, Pendleton J, Blackstone C (2005) The Troyer syndrome (SPG20) protein spartin interacts with Eps15. Biochem Biophys Res Comm 334(4):1042-1048
    • (2005) Biochem Biophys Res Comm , vol.334 , Issue.4 , pp. 1042-1048
    • Bakowska, J.C.1    Jenkins, R.2    Pendleton, J.3    Blackstone, C.4
  • 21
    • 68349096275 scopus 로고    scopus 로고
    • Atlasin GTPases shape up ER networks
    • 19686675 1:CAS:528:DC%2BD1MXhsVCiu7zK
    • Barlowe C (2009) Atlasin GTPases shape up ER networks. Dev Cell 17:157-158
    • (2009) Dev Cell , vol.17 , pp. 157-158
    • Barlowe, C.1
  • 22
    • 0029957549 scopus 로고    scopus 로고
    • Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
    • 8947027 1:CAS:528:DyaK28XnsFKktrw%3D
    • Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C (1996) Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15:6050-6059
    • (1996) EMBO J , vol.15 , pp. 6050-6059
    • Bateman, A.1    Jouet, M.2    Macfarlane, J.3    Du, J.S.4    Kenwrick, S.5    Chothia, C.6
  • 23
    • 84861318140 scopus 로고    scopus 로고
    • Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    • 22290197 1:CAS:528:DC%2BC38XitFGgt70%3D
    • Bauer P, Leshinsky-Silver E, Blumkin L et al (2012) Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 13:73-76
    • (2012) Neurogenetics , vol.13 , pp. 73-76
    • Bauer, P.1    Leshinsky-Silver, E.2    Blumkin, L.3
  • 24
    • 41849124507 scopus 로고    scopus 로고
    • REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
    • 18321925
    • Beetz C, Schule R, Deconinck T et al (2008) REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 131:1078-1086
    • (2008) Brain , vol.131 , pp. 1078-1086
    • Beetz, C.1    Schule, R.2    Deconinck, T.3
  • 25
    • 0015945194 scopus 로고
    • Strumpell's familial spastic paraplegia: Genetics and neuropathology
    • 4813430 1:STN:280:DyaE2c7gtFOqsg%3D%3D
    • Behan W, Maia M (1974) Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 37:8-20
    • (1974) J Neurol Neurosurg Psychiatry , vol.37 , pp. 8-20
    • Behan, W.1    Maia, M.2
  • 26
    • 77954237882 scopus 로고    scopus 로고
    • Network organization of the human autophagy system
    • 20562859 1:CAS:528:DC%2BC3cXns1Gis7Y%3D
    • Behrends C, Sowa ME, Gygi SP, Harper JW (2010) Network organization of the human autophagy system. Nature 466:68-76
    • (2010) Nature , vol.466 , pp. 68-76
    • Behrends, C.1    Sowa, M.E.2    Gygi, S.P.3    Harper, J.W.4
  • 27
    • 58149161907 scopus 로고    scopus 로고
    • Swiss cheese, a protein involved in progressive neurodegeneration, acts as a noncanonical regulatory subunit for PKA-C3
    • 18945896 1:CAS:528:DC%2BD1cXhtlWnsLzO
    • Bettencourt da Cruz A, Wentzell J, Kretzschmar D (2008) Swiss cheese, a protein involved in progressive neurodegeneration, acts as a noncanonical regulatory subunit for PKA-C3. J Neurosci 28:10885-10892
    • (2008) J Neurosci , vol.28 , pp. 10885-10892
    • Bettencourt Da Cruz, A.1    Wentzell, J.2    Kretzschmar, D.3
  • 28
    • 0026647270 scopus 로고
    • Allan-Herndon-Dudley syndrome: Clinical and linkage studies on a second family
    • 1605231 1:STN:280:DyaK383ps1WrtA%3D%3D
    • Bialer MG, Lawrence L, Stevenson RE et al (1992) Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet 43:491-497
    • (1992) Am J Med Genet , vol.43 , pp. 491-497
    • Bialer, M.G.1    Lawrence, L.2    Stevenson, R.E.3
  • 29
    • 79952774592 scopus 로고    scopus 로고
    • Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes
    • Bian X, Klemm RW, Liu TY et al (2011) Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.In: Proceedings of National Academy of Sciences of USA
    • (2011) Proceedings of National Academy of Sciences of USA
    • Bian, X.1    Klemm, R.W.2    Liu, T.Y.3
  • 30
    • 59149086340 scopus 로고    scopus 로고
    • White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
    • 19187859
    • Biancheri R, Ciccolella M, Rossi A et al (2009) White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromuscul Disord 19:62-65
    • (2009) Neuromuscul Disord , vol.19 , pp. 62-65
    • Biancheri, R.1    Ciccolella, M.2    Rossi, A.3
  • 32
    • 33644657709 scopus 로고    scopus 로고
    • Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
    • 16489470 1:CAS:528:DC%2BD28XltVGntLg%3D
    • Blair MA, Ma S, Hedera P (2006) Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics 7:47-50
    • (2006) Neurogenetics , vol.7 , pp. 47-50
    • Blair, M.A.1    Ma, S.2    Hedera, P.3
  • 33
    • 10744230526 scopus 로고    scopus 로고
    • A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32
    • 14681889
    • Blumen SC, Bevan S, Abu-Mouch S et al (2003) A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol 54:796-803
    • (2003) Ann Neurol , vol.54 , pp. 796-803
    • Blumen, S.C.1    Bevan, S.2    Abu-Mouch, S.3
  • 34
    • 79955703942 scopus 로고    scopus 로고
    • A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum
    • 21440262 1:CAS:528:DC%2BC3MXlslyhtr4%3D
    • Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E (2011) A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci 305:67-70
    • (2011) J Neurol Sci , vol.305 , pp. 67-70
    • Blumkin, L.1    Lerman-Sagie, T.2    Lev, D.3    Yosovich, K.4    Leshinsky-Silver, E.5
  • 35
    • 78650906267 scopus 로고    scopus 로고
    • The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1
    • 20816793 1:CAS:528:DC%2BC3MXktF2mtA%3D%3D
    • Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P (2011) The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. Mol Cell Neurosci 46:122-135
    • (2011) Mol Cell Neurosci , vol.46 , pp. 122-135
    • Botzolakis, E.J.1    Zhao, J.2    Gurba, K.N.3    Macdonald, R.L.4    Hedera, P.5
  • 36
    • 33646432730 scopus 로고    scopus 로고
    • Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
    • 16399879 1:CAS:528:DC%2BD28XltlKktLw%3D
    • Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M (2006) Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet 43:441-443
    • (2006) J Med Genet , vol.43 , pp. 441-443
    • Bouhouche, A.1    Benomar, A.2    Bouslam, N.3    Chkili, T.4    Yahyaoui, M.5
  • 37
    • 31344481370 scopus 로고    scopus 로고
    • Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1
    • 16333315 1:CAS:528:DC%2BD28Xlt1enug%3D%3D
    • Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M (2006) Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1. Eur J Hum Genet 14:249-252
    • (2006) Eur J Hum Genet , vol.14 , pp. 249-252
    • Bouhouche, A.1    Benomar, A.2    Bouslam, N.3    Ouazzani, R.4    Chkili, T.5    Yahyaoui, M.6
  • 38
    • 78650058637 scopus 로고    scopus 로고
    • A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum
    • 20593214
    • Boukhris A, Feki I, Elleuch N et al (2010) A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 11:441-448
    • (2010) Neurogenetics , vol.11 , pp. 441-448
    • Boukhris, A.1    Feki, I.2    Elleuch, N.3
  • 39
    • 20144389697 scopus 로고    scopus 로고
    • Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
    • 15786464 1:CAS:528:DC%2BD2MXjs1Ons78%3D
    • Bouslam N, Benomar A, Azzedine H et al (2005) Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 57:567-571
    • (2005) Ann Neurol , vol.57 , pp. 567-571
    • Bouslam, N.1    Benomar, A.2    Azzedine, H.3
  • 40
    • 46149118689 scopus 로고    scopus 로고
    • The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo
    • 18400758 1:CAS:528:DC%2BD1cXmsFeku7o%3D
    • Bross P, Naundrup S, Hansen J et al (2008) The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. J Biol Chem 283:15694-15700
    • (2008) J Biol Chem , vol.283 , pp. 15694-15700
    • Bross, P.1    Naundrup, S.2    Hansen, J.3
  • 41
    • 33748325741 scopus 로고    scopus 로고
    • Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER
    • 16835267 1:CAS:528:DC%2BD28Xpt1altLY%3D
    • Browman DT, Resek ME, Zajchowski LD, Robbins SM (2006) Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER. J Cell Sci 119:3149-3160
    • (2006) J Cell Sci , vol.119 , pp. 3149-3160
    • Browman, D.T.1    Resek, M.E.2    Zajchowski, L.D.3    Robbins, S.M.4
  • 42
    • 56149126723 scopus 로고    scopus 로고
    • Paraplegin mutations in apparently sporadic adult-onset upper motor neuron syndromes
    • 18799786 1:STN:280:DC%2BD1cjht1OlsA%3D%3D
    • Brugman F, Scheffer H, Wokke JHJ et al (2008) Paraplegin mutations in apparently sporadic adult-onset upper motor neuron syndromes. Neurology 71:1500-1505
    • (2008) Neurology , vol.71 , pp. 1500-1505
    • Brugman, F.1    Scheffer, H.2    Wokke, J.H.J.3
  • 43
    • 0018305451 scopus 로고
    • Strumpell-Lorrains familial spasmodic paraplegia - Anatomical and clinical review and report on a new case
    • 1:STN:280:DyaL3c%2FlvVWruw%3D%3D
    • Buge A, Escourolle R, Rancurel G, Gray F, Pertuiset BF (1979) Strumpell-Lorrains familial spasmodic paraplegia - anatomical and clinical review and report on a new case. Rev Neurol (Paris) 135:329-337
    • (1979) Rev Neurol (Paris) , vol.135 , pp. 329-337
    • Buge, A.1    Escourolle, R.2    Rancurel, G.3    Gray, F.4    Pertuiset, B.F.5
  • 44
    • 0029737834 scopus 로고    scopus 로고
    • Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family
    • 8707310 1:STN:280:DyaK28zivVejug%3D%3D
    • Burger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A (1996) Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family. Hum Genet 98:371-375
    • (1996) Hum Genet , vol.98 , pp. 371-375
    • Burger, J.1    Metzke, H.2    Paternotte, C.3    Schilling, F.4    Hazan, J.5    Reis, A.6
  • 45
    • 0031845205 scopus 로고    scopus 로고
    • Linkage of AD HSP and cognitive impairment to chromosome 2p: Haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
    • 9781032 1:CAS:528:DyaK1MXhsFGkurk%3D
    • Byrne PC, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey N (1998) Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. Eur J Hum Genet 6:275-282
    • (1998) Eur J Hum Genet , vol.6 , pp. 275-282
    • Byrne, P.C.1    Webb, S.2    McSweeney, F.3    Burke, T.4    Hutchinson, M.5    Parfrey, N.6
  • 46
    • 0029863607 scopus 로고    scopus 로고
    • Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
    • 8780101 1:STN:280:DyaK28zntlyisg%3D%3D
    • Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF (1996) Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 46:1112-1117
    • (1996) Neurology , vol.46 , pp. 1112-1117
    • Cambi, F.1    Tang, X.M.2    Cordray, P.3    Fain, P.R.4    Keppen, L.D.5    Barker, D.F.6
  • 47
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • 9635427 1:CAS:528:DyaK1cXjvFKqsLs%3D
    • Casari G, Fusco M, Ciarmatori S et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    Fusco, M.2    Ciarmatori, S.3
  • 48
    • 0037231374 scopus 로고    scopus 로고
    • Mutations in SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized to the nucleus
    • 1:CAS:528:DC%2BD3sXjt1ahsg%3D%3D
    • Charvin D, Fonknechten N, Cifuentes-Diaz C, Joshi V, Hazan J, Melki J, Betuing S (2003) Mutations in SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized to the nucleus. Am J Hum Genet 12:71-78
    • (2003) Am J Hum Genet , vol.12 , pp. 71-78
    • Charvin, D.1    Fonknechten, N.2    Cifuentes-Diaz, C.3    Joshi, V.4    Hazan, J.5    Melki, J.6    Betuing, S.7
  • 49
    • 13444309076 scopus 로고    scopus 로고
    • Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
    • 15643603 1:CAS:528:DC%2BD2MXhslWqtLc%3D
    • Chen S, Song C, Guo H, Xu P, Huang W et al (2005) Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat 25:135-141
    • (2005) Hum Mutat , vol.25 , pp. 135-141
    • Chen, S.1    Song, C.2    Guo, H.3    Xu, P.4    Huang, W.5
  • 50
    • 77957678410 scopus 로고    scopus 로고
    • Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases
    • 20833645
    • Clemen CS, Tangavelou K, Strucksberg KH et al (2010) Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain 133:2920-2941
    • (2010) Brain , vol.133 , pp. 2920-2941
    • Clemen, C.S.1    Tangavelou, K.2    Strucksberg, K.H.3
  • 51
    • 58149181351 scopus 로고    scopus 로고
    • Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion
    • 19000169 1:CAS:528:DC%2BD1MXnsF2qsA%3D%3D
    • Connell JW, Lindon C, Luzio JP, Reid E (2009) Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. Traffic 10:42-56
    • (2009) Traffic , vol.10 , pp. 42-56
    • Connell, J.W.1    Lindon, C.2    Luzio, J.P.3    Reid, E.4
  • 52
    • 68349147777 scopus 로고    scopus 로고
    • Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study
    • 19363635
    • Criscuolo C, Filla A, Coppola G et al (2009) Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. J Neurol 256:1252-1257
    • (2009) J Neurol , vol.256 , pp. 1252-1257
    • Criscuolo, C.1    Filla, A.2    Coppola, G.3
  • 53
    • 31544447671 scopus 로고    scopus 로고
    • Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia
    • (Ref Type: Abstract)
    • Crosby AH, Patel H, Patton MA, Proukakis C, Cross H (2002) Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia. Am J Hum Genet 71:516 (Ref Type: Abstract)
    • (2002) Am J Hum Genet , vol.71 , pp. 516
    • Crosby, A.H.1    Patel, H.2    Patton, M.A.3    Proukakis, C.4    Cross, H.5
  • 54
    • 0014085911 scopus 로고
    • The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting
    • 6022528 1:STN:280:DyaF2s7jtlCitQ%3D%3D
    • Cross HE, McKusick VA (1967) The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16:473-485
    • (1967) Arch Neurol , vol.16 , pp. 473-485
    • Cross, H.E.1    McKusick, V.A.2
  • 55
    • 0041429541 scopus 로고    scopus 로고
    • Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
    • 12939451 1:STN:280:DC%2BD3svgtFSntg%3D%3D
    • Dalpozzo F, Rossetto MG, Boaretto MS et al (2003) Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. Neurology 61:580-581
    • (2003) Neurology , vol.61 , pp. 580-581
    • Dalpozzo, F.1    Rossetto, M.G.2    Boaretto, M.S.3
  • 58
    • 0033548575 scopus 로고    scopus 로고
    • AP-4, a novel protein complex related to clathrin adaptors
    • 10066790
    • Dell'Angelica EC, Mullins C, Bonifacino JS (1999) AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem 274:7278-7285
    • (1999) J Biol Chem , vol.274 , pp. 7278-7285
    • Dell'Angelica, E.C.1    Mullins, C.2    Bonifacino, J.S.3
  • 59
    • 9444232285 scopus 로고    scopus 로고
    • The extent of axonal loss in the long tracts in hereditary spastic paraplegia
    • 15540998 1:STN:280:DC%2BD2crntVCitg%3D%3D
    • Deluca GC, Ebers GC, Esiri MM (2004) The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol 30:576-584
    • (2004) Neuropathol Appl Neurobiol , vol.30 , pp. 576-584
    • Deluca, G.C.1    Ebers, G.C.2    Esiri, M.M.3
  • 60
    • 0032231934 scopus 로고    scopus 로고
    • A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
    • 1:CAS:528:DyaK1cXnvFaku7s%3D
    • DeMichele G, DeFusco M, Cavalcanti F et al (1998) A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 63:135-139
    • (1998) Am J Hum Genet , vol.63 , pp. 135-139
    • Demichele, G.1    Defusco, M.2    Cavalcanti, F.3
  • 61
    • 0023883671 scopus 로고
    • Hereditary spastic paraplegia
    • 3392192 1:STN:280:DyaL1c3ntlGnsw%3D%3D
    • Dennis SC, Green NE (1988) Hereditary spastic paraplegia. J Pediatr Orthop 8:413-417
    • (1988) J Pediatr Orthop , vol.8 , pp. 413-417
    • Dennis, S.C.1    Green, N.E.2
  • 62
    • 50549092401 scopus 로고    scopus 로고
    • A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
    • 18463364 1:STN:280:DC%2BD1cvmsVKqsw%3D%3D
    • Dick KJ, Al-Mjeni R, Baskir W et al (2008) A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 71:248-252
    • (2008) Neurology , vol.71 , pp. 248-252
    • Dick, K.J.1    Al-Mjeni, R.2    Baskir, W.3
  • 63
    • 77950467334 scopus 로고    scopus 로고
    • Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
    • 20104589 1:CAS:528:DC%2BC3cXlslGhtbs%3D
    • Dick KJ, Eckhardt M, Paisan-Ruiz C et al (2010) Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 31:E1251-E1260
    • (2010) Hum Mutat , vol.31
    • Dick, K.J.1    Eckhardt, M.2    Paisan-Ruiz, C.3
  • 64
    • 79958126211 scopus 로고    scopus 로고
    • Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
    • 21419568
    • Du J, Hu YC, Tang BS et al (2011) Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. Clin Neurol Neurosurg 113:480-482
    • (2011) Clin Neurol Neurosurg , vol.113 , pp. 480-482
    • Du, J.1    Hu, Y.C.2    Tang, B.S.3
  • 65
    • 0020084605 scopus 로고
    • Evidence for the existence of neurotoxic esterase in neural and lymphatic tissue of the adult hen
    • 7082366 1:CAS:528:DyaL38Xkt1Wjs7o%3D
    • Dudek BR, Richardson RJ (1982) Evidence for the existence of neurotoxic esterase in neural and lymphatic tissue of the adult hen. Biochem Pharmacol 31:1117-1121
    • (1982) Biochem Pharmacol , vol.31 , pp. 1117-1121
    • Dudek, B.R.1    Richardson, R.J.2
  • 66
    • 0028037953 scopus 로고
    • The phenotype of "pure" autosomal dominant spastic paraplegia
    • 8035929 1:STN:280:DyaK2czgvFyisg%3D%3D
    • Durr A, Brice A, Serdaru M et al (1994) The phenotype of "pure" autosomal dominant spastic paraplegia. Neurology 44:1274-1277
    • (1994) Neurology , vol.44 , pp. 1274-1277
    • Durr, A.1    Brice, A.2    Serdaru, M.3
  • 67
    • 10344241450 scopus 로고    scopus 로고
    • Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
    • 8931574
    • Durr A, Davoine C-S, Paternotte C et al (1996) Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 119:1487-1496
    • (1996) Brain , vol.119 , pp. 1487-1496
    • Durr, A.1    Davoine, C.-S.2    Paternotte, C.3
  • 68
    • 79959360783 scopus 로고    scopus 로고
    • Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
    • 19415352
    • Dursun U, Koroglu C, Kocasoy OE, Ugur SA, Tolun A (2009) Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics 10:325-331
    • (2009) Neurogenetics , vol.10 , pp. 325-331
    • Dursun, U.1    Koroglu, C.2    Kocasoy, O.E.3    Ugur, S.A.4    Tolun, A.5
  • 69
    • 33746094658 scopus 로고    scopus 로고
    • Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
    • 1:CAS:528:DC%2BD28XntFWmsL8%3D
    • Evans K, Keller C, Gasgow K, Conn B, Lauring B (2006) Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci (USA) 103:10666-10671
    • (2006) Proc Natl Acad Sci (USA) , vol.103 , pp. 10666-10671
    • Evans, K.1    Keller, C.2    Gasgow, K.3    Conn, B.4    Lauring, B.5
  • 70
    • 13944283245 scopus 로고    scopus 로고
    • Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing
    • 15716377 1:CAS:528:DC%2BD2MXhsVequ7Y%3D
    • Evans KJ, Gomes ER, Reisenweber SM, Gundersen GG, Lauring BP (2005) Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J Cell Biol 168:599-606
    • (2005) J Cell Biol , vol.168 , pp. 599-606
    • Evans, K.J.1    Gomes, E.R.2    Reisenweber, S.M.3    Gundersen, G.G.4    Lauring, B.P.5
  • 71
    • 78049287669 scopus 로고    scopus 로고
    • Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway
    • 20935645 1:CAS:528:DC%2BC3cXht1Kms7bP
    • Fassier C, Hutt JA, Scholpp S et al (2010) Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway. Nat Neurosci 13:1380-1387
    • (2010) Nat Neurosci , vol.13 , pp. 1380-1387
    • Fassier, C.1    Hutt, J.A.2    Scholpp, S.3
  • 72
    • 78649766918 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation
    • 21092922 1:CAS:528:DC%2BC3cXhsFags7bK
    • Feinstein M, Markus B, Noyman I et al (2010) Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet 87:820-828
    • (2010) Am J Hum Genet , vol.87 , pp. 820-828
    • Feinstein, M.1    Markus, B.2    Noyman, I.3
  • 73
    • 1342310772 scopus 로고    scopus 로고
    • Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
    • 14722615 1:CAS:528:DC%2BD2cXmsVyrug%3D%3D
    • Ferreirinha F, Quattrini A, Pirozzi M et al (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113:231-242
    • (2004) J Clin Invest , vol.113 , pp. 231-242
    • Ferreirinha, F.1    Quattrini, A.2    Pirozzi, M.3
  • 74
    • 4644258352 scopus 로고    scopus 로고
    • Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
    • 15452312 1:CAS:528:DC%2BD2cXntlOrs7g%3D
    • Fichera M, Lo Giudice M, Falco M et al (2004) Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 63:1108-1110
    • (2004) Neurology , vol.63 , pp. 1108-1110
    • Fichera, M.1    Lo Giudice, M.2    Falco, M.3
  • 75
    • 66949163191 scopus 로고    scopus 로고
    • D. Rimoin (eds) Churchill LivingstoneElsevier Philadelphia
    • Fink JK (2011) In: Rimoin D (ed) Hereditary spastic paraplegia. Churchill LivingstoneElsevier, Philadelphia
    • (2011) Hereditary Spastic Paraplegia
    • Fink, J.K.1
  • 76
    • 85137258179 scopus 로고    scopus 로고
    • Hereditary Spastic Paraplegias
    • A.H.V. Schapira (eds) Mosby Elsevier Philadelphia
    • Fink JK (2007) Hereditary Spastic Paraplegias. In: Schapira AHV (ed) Neurology and clinical neurosciences. Mosby Elsevier, Philadelphia, pp 899-910
    • (2007) Neurology and Clinical Neurosciences , pp. 899-910
    • Fink, J.K.1
  • 77
    • 0028817191 scopus 로고
    • Autosomal dominant hereditary spastic paraparesis, type I: Clinical and genetic analysis of a large North American family
    • 7854534 1:STN:280:DyaK2M7lslOmtg%3D%3D
    • Fink JK, Sharp G, Lange B et al (1995) Autosomal dominant hereditary spastic paraparesis, type I: clinical and genetic analysis of a large North American family. Neurology 45:325-331
    • (1995) Neurology , vol.45 , pp. 325-331
    • Fink, J.K.1    Sharp, G.2    Lange, B.3
  • 78
    • 0028868126 scopus 로고
    • Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
    • 7825577 1:STN:280:DyaK2M7is1Wisw%3D%3D
    • Fink JK, Wu C-TB, Jones SM et al (1995) Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 56:188-192
    • (1995) Am J Hum Genet , vol.56 , pp. 188-192
    • Fink, J.K.1    Wu, C.-T.2    Jones, S.M.3
  • 79
    • 0033912567 scopus 로고    scopus 로고
    • A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
    • 10677329 1:CAS:528:DC%2BD3cXitFyitbw%3D
    • Fontaine B, Davoine C-S, Durr A et al (2000) A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 66:702-707
    • (2000) Am J Hum Genet , vol.66 , pp. 702-707
    • Fontaine, B.1    Davoine, C.-S.2    Durr, A.3
  • 80
    • 34748818954 scopus 로고    scopus 로고
    • Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
    • 17516453
    • Franca MC Jr, D'Abreu A, Maurer-Morelli CV et al (2007) Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord 22:1556-1562
    • (2007) Mov Disord , vol.22 , pp. 1556-1562
    • Franca, Jr.M.C.1    D'Abreu, A.2    Maurer-Morelli, C.V.3
  • 81
    • 0025077713 scopus 로고
    • Familial case of May-Hegglin anomaly associated with familial spastic paraplegia
    • 2171328 1:STN:280:DyaK3M%2Fit1KmtA%3D%3D
    • Fujita Y, Fujii T, Nishio A, Tuboi K, Tsuji K, Nakamura M (1990) Familial case of May-Hegglin anomaly associated with familial spastic paraplegia. Am J Hematol 35:219-221
    • (1990) Am J Hematol , vol.35 , pp. 219-221
    • Fujita, Y.1    Fujii, T.2    Nishio, A.3    Tuboi, K.4    Tsuji, K.5    Nakamura, M.6
  • 82
    • 0025310594 scopus 로고
    • Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): Identification of distinct genes and their differential expression in developing brain
    • 2355215 1:CAS:528:DyaK3cXksFemurw%3D
    • Garner CC, Garner A, Huber G, Kozak C, Matus A (1990) Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): identification of distinct genes and their differential expression in developing brain. J Neurochem 55:146-154
    • (1990) J Neurochem , vol.55 , pp. 146-154
    • Garner, C.C.1    Garner, A.2    Huber, G.3    Kozak, C.4    Matus, A.5
  • 83
    • 0035871081 scopus 로고    scopus 로고
    • Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins
    • 11284710 1:CAS:528:DC%2BD3MXjsValtbg%3D
    • Gillooly DJ, Simonsen A, Stenmark H (2001) Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins. Biochem J 355:249-258
    • (2001) Biochem J , vol.355 , pp. 249-258
    • Gillooly, D.J.1    Simonsen, A.2    Stenmark, H.3
  • 84
    • 0033572645 scopus 로고    scopus 로고
    • Neuropathy target esterase
    • 10585848 1:CAS:528:DC%2BD3cXislCgsg%3D%3D
    • Glynn P (1999) Neuropathy target esterase. Biochem J 344:625-631
    • (1999) Biochem J , vol.344 , pp. 625-631
    • Glynn, P.1
  • 85
    • 0033964076 scopus 로고    scopus 로고
    • Neural development and neurodegeneration: Two faces of neuropathy target esterase
    • 10759065 1:CAS:528:DC%2BD3cXisValurY%3D
    • Glynn P (2000) Neural development and neurodegeneration: two faces of neuropathy target esterase. Prog Neurobiol 61:61-74
    • (2000) Prog Neurobiol , vol.61 , pp. 61-74
    • Glynn, P.1
  • 86
    • 78650899552 scopus 로고    scopus 로고
    • Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type i
    • 21194679 1:CAS:528:DC%2BC3MXktVeisw%3D%3D
    • Guelly C, Zhu PP, Leonardis L et al (2011) Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 88:99-105
    • (2011) Am J Hum Genet , vol.88 , pp. 99-105
    • Guelly, C.1    Zhu, P.P.2    Leonardis, L.3
  • 87
    • 50049131077 scopus 로고    scopus 로고
    • Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype
    • 18446315 1:CAS:528:DC%2BD1cXpt1CqsLk%3D
    • Haberlova J, Claeys KG, Zamecnik J, De JP, Seeman P (2008) Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype. J Neurol 255:927-928
    • (2008) J Neurol , vol.255 , pp. 927-928
    • Haberlova, J.1    Claeys, K.G.2    Zamecnik, J.3    De, J.P.4    Seeman, P.5
  • 88
    • 35448961687 scopus 로고    scopus 로고
    • A novel locus for autosomal dominant 'uncomplicated' hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    • 17605047 1:CAS:528:DC%2BD2sXhtFyqsrvM
    • Hanein S, Durr A, Ribai P et al (2007) A novel locus for autosomal dominant 'uncomplicated' hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 122:261-273
    • (2007) Hum Genet , vol.122 , pp. 261-273
    • Hanein, S.1    Durr, A.2    Ribai, P.3
  • 89
    • 41549153666 scopus 로고    scopus 로고
    • Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
    • 18394578 1:CAS:528:DC%2BD1cXltVKrtro%3D
    • Hanein S, Martin E, Boukhris A et al (2008) Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82:992-1002
    • (2008) Am J Hum Genet , vol.82 , pp. 992-1002
    • Hanein, S.1    Martin, E.2    Boukhris, A.3
  • 90
    • 70249097395 scopus 로고    scopus 로고
    • Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1
    • 19184135 1:CAS:528:DC%2BD1MXntVSqs7Y%3D
    • Hanna MC, Blackstone C (2009) Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. Neurogenetics 10:217-228
    • (2009) Neurogenetics , vol.10 , pp. 217-228
    • Hanna, M.C.1    Blackstone, C.2
  • 91
    • 43049159563 scopus 로고    scopus 로고
    • Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)
    • 18378094 1:CAS:528:DC%2BD1cXls1ykt74%3D
    • Hansen J, Corydon TJ, Palmfeldt J et al (2008) Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). Neuroscience 153:474-482
    • (2008) Neuroscience , vol.153 , pp. 474-482
    • Hansen, J.1    Corydon, T.J.2    Palmfeldt, J.3
  • 92
    • 0036241765 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia SPG13 is associated with a muatation in the gene encoding the mitochondrial chaperonin Hsp60
    • 11898127 1:CAS:528:DC%2BD38XjsFGnsLs%3D
    • Hansen JJ, Durr A, Cournu-Rebeix I et al (2002) Hereditary spastic paraplegia SPG13 is associated with a muatation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 70:1328-1332
    • (2002) Am J Hum Genet , vol.70 , pp. 1328-1332
    • Hansen, J.J.1    Durr, A.2    Cournu-Rebeix, I.3
  • 93
    • 0027759812 scopus 로고
    • Hereditary spastic paraplegias
    • 8146482 1:STN:280:DyaK2c7ps1WktQ%3D%3D
    • Harding AE (1993) Hereditary spastic paraplegias. Semin Neurol 13:333-336
    • (1993) Semin Neurol , vol.13 , pp. 333-336
    • Harding, A.E.1
  • 94
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • 6133167 1:STN:280:DyaL3s7ptFSlsQ%3D%3D
    • Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151-1155
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 95
    • 0027981739 scopus 로고
    • Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
    • 7833913 1:CAS:528:DyaK2cXmsVOrs78%3D
    • Hazan J, Fontaine B, Bruyn RPM et al (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 3:1569-1573
    • (1994) Hum Mol Genet , vol.3 , pp. 1569-1573
    • Hazan, J.1    Fontaine, B.2    Bruyn, R.P.M.3
  • 96
    • 0027363223 scopus 로고
    • Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
    • 8252041 1:CAS:528:DyaK3sXmsValsLc%3D
    • Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 5:163-167
    • (1993) Nat Genet , vol.5 , pp. 163-167
    • Hazan, J.1    Lamy, C.2    Melki, J.3    Munnich, A.4    De Recondo, J.5    Weissenbach, J.6
  • 97
    • 0033551507 scopus 로고    scopus 로고
    • Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
    • 10408535 1:STN:280:DyaK1MzjsFShsg%3D%3D
    • Hedera P, DiMauro S, Bonilla E, Wald J, Eldevik OP, Fink JK (1999) Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology 53:44-50
    • (1999) Neurology , vol.53 , pp. 44-50
    • Hedera, P.1    Dimauro, S.2    Bonilla, E.3    Wald, J.4    Eldevik, O.P.5    Fink, J.K.6
  • 98
    • 27644465298 scopus 로고    scopus 로고
    • Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
    • 16143870 1:STN:280:DC%2BD2Mrktl2ksQ%3D%3D
    • Hedera P, Eldevik OP, Maly P, Rainier S, Fink JK (2005) Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology 47:730-734
    • (2005) Neuroradiology , vol.47 , pp. 730-734
    • Hedera, P.1    Eldevik, O.P.2    Maly, P.3    Rainier, S.4    Fink, J.K.5
  • 99
    • 0033073735 scopus 로고    scopus 로고
    • Novel locus for autosomal dominant hereditary spastic paraplegia on chromosome 8q
    • 9973294 1:CAS:528:DyaK1MXhslOltb0%3D
    • Hedera P, Rainier S, Alvarado D et al (1999) Novel locus for autosomal dominant hereditary spastic paraplegia on chromosome 8q. Am J Hum Genet 64:563-569
    • (1999) Am J Hum Genet , vol.64 , pp. 563-569
    • Hedera, P.1    Rainier, S.2    Alvarado, D.3
  • 100
  • 101
    • 0028067709 scopus 로고
    • Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers
    • 7849714 1:CAS:528:DyaK2cXmvFChsLw%3D
    • Hentati A, Pericak-Vance MA, Lennon F et al (1994) Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 3:1867-1871
    • (1994) Hum Mol Genet , vol.3 , pp. 1867-1871
    • Hentati, A.1    Pericak-Vance, M.A.2    Lennon, F.3
  • 102
    • 80055036494 scopus 로고    scopus 로고
    • The fifth adaptor protein complex
    • 22022230 1:CAS:528:DC%2BC3MXhtl2lsrnP
    • Hirst J, Barlow D, Francisco GC et al (2011) The fifth adaptor protein complex. PLoS Biol 9:e1001170
    • (2011) PLoS Biol , vol.9 , pp. 1001170
    • Hirst, J.1    Barlow, D.2    Francisco, G.C.3
  • 103
    • 84872038046 scopus 로고    scopus 로고
    • Adaptor protein complexes AP-4 and AP-5: New players in endosomal trafficking and progressive spastic paraplegia
    • 23167973 1:CAS:528:DC%2BC3sXivVWisLg%3D
    • Hirst J, Irving C, Borner GH (2013) Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia. Traffic 14(2):153-164
    • (2013) Traffic , vol.14 , Issue.2 , pp. 153-164
    • Hirst, J.1    Irving, C.2    Borner, G.H.3
  • 104
    • 0032784330 scopus 로고    scopus 로고
    • Characterization of a fourth adaptor-related protein complex
    • 10436028 1:CAS:528:DyaK1MXlsVyqsrk%3D
    • Hirst J, Bright NA, Rous B, Robinson MS (1999) Characterization of a fourth adaptor-related protein complex. Mol Biol Cell 10:2787-2802
    • (1999) Mol Biol Cell , vol.10 , pp. 2787-2802
    • Hirst, J.1    Bright, N.A.2    Rous, B.3    Robinson, M.S.4
  • 105
    • 0037168804 scopus 로고    scopus 로고
    • A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
    • 12499481 1:CAS:528:DC%2BD38XptFOqs7Y%3D
    • Hodgkinson CA, Bohlega S, Abu-Amero SN et al (2002) A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59:1905-1909
    • (2002) Neurology , vol.59 , pp. 1905-1909
    • Hodgkinson, C.A.1    Bohlega, S.2    Abu-Amero, S.N.3
  • 106
    • 77952616841 scopus 로고    scopus 로고
    • Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets
    • 20504295
    • Hooper C, Puttamadappa SS, Loring Z, Shekhtman A, Bakowska JC (2010) Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets. BMC Biol 8:72
    • (2010) BMC Biol , vol.8 , pp. 72
    • Hooper, C.1    Puttamadappa, S.S.2    Loring, Z.3    Shekhtman, A.4    Bakowska, J.C.5
  • 107
    • 0141893575 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease and spastic paraplegia type 2: Two faces of myelin loss from mutations in the same gene
    • 14572140
    • Hudson LD (2003) Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol 18:616-624
    • (2003) J Child Neurol , vol.18 , pp. 616-624
    • Hudson, L.D.1
  • 108
    • 0035826895 scopus 로고    scopus 로고
    • SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q
    • 11342696 1:CAS:528:DC%2BD3MXktValu7s%3D
    • Hughes CA, Byrne PC, Webb S et al (2001) SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56:1230-1233
    • (2001) Neurology , vol.56 , pp. 1230-1233
    • Hughes, C.A.1    Byrne, P.C.2    Webb, S.3
  • 109
    • 47149091817 scopus 로고    scopus 로고
    • Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17
    • 18585921 1:CAS:528:DC%2BD1cXoslOht74%3D
    • Ito D, Fujisawa T, Iida H, Suzuki N (2008) Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. Neurobiol Dis 31:266-277
    • (2008) Neurobiol Dis , vol.31 , pp. 266-277
    • Ito, D.1    Fujisawa, T.2    Iida, H.3    Suzuki, N.4
  • 110
    • 34547114476 scopus 로고    scopus 로고
    • Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress
    • 17633104
    • Ito D, Suzuki N (2007) Seipin/BSCL2-related motor neuron disease: seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress. Rinsho Shinkeigaku 47:329-335
    • (2007) Rinsho Shinkeigaku , vol.47 , pp. 329-335
    • Ito, D.1    Suzuki, N.2
  • 111
    • 58849138276 scopus 로고    scopus 로고
    • Seipinopathy: A novel endoplasmic reticulum stress-associated disease
    • 18790819
    • Ito D, Suzuki N (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132:8-15
    • (2009) Brain , vol.132 , pp. 8-15
    • Ito, D.1    Suzuki, N.2
  • 112
    • 34249011255 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia 3A associated with axonal neuropathy
    • 17502470
    • Ivanova N, Claeys KG, Deconinck T et al (2007) Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol 64:706-713
    • (2007) Arch Neurol , vol.64 , pp. 706-713
    • Ivanova, N.1    Claeys, K.G.2    Deconinck, T.3
  • 113
    • 0019391422 scopus 로고
    • Sjogren-Larsson syndrome in Sweden: A clinical, genetic and epidemiological study
    • 7273467 1:STN:280:DyaL38%2Fgt1OktA%3D%3D
    • Jagell S, Gustavson KH, Holmgren G (1981) Sjogren-Larsson syndrome in Sweden: a clinical, genetic and epidemiological study. Clin Genet 19:233-256
    • (1981) Clin Genet , vol.19 , pp. 233-256
    • Jagell, S.1    Gustavson, K.H.2    Holmgren, G.3
  • 114
    • 0020001921 scopus 로고
    • Ichtyosis in the Sjogren-Larsson syndrome
    • 6179662 1:STN:280:DyaL383lvF2mtg%3D%3D
    • Jagell S, Linden S (1982) Ichtyosis in the Sjogren-Larsson syndrome. Clin Genet 21:243-252
    • (1982) Clin Genet , vol.21 , pp. 243-252
    • Jagell, S.1    Linden, S.2
  • 115
    • 77953757324 scopus 로고    scopus 로고
    • WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes
    • 20498093 1:CAS:528:DC%2BC3cXnvV2isL0%3D
    • Jia D, Gomez TS, Metlagel Z et al (2010) WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. Proc Natl Acad Sci USA 107:10442-10447
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10442-10447
    • Jia, D.1    Gomez, T.S.2    Metlagel, Z.3
  • 116
    • 0016118539 scopus 로고
    • The primary biochemical lesion leading to the delayed neurotoxic effects of some organophosphorus esters
    • 4430918 1:CAS:528:DyaE2MXotFChuw%3D%3D
    • Johnson MK (1974) The primary biochemical lesion leading to the delayed neurotoxic effects of some organophosphorus esters. J Neurochem 23:785-789
    • (1974) J Neurochem , vol.23 , pp. 785-789
    • Johnson, M.K.1
  • 117
    • 0001179179 scopus 로고    scopus 로고
    • Neuropathy target esterase
    • R.I. Krieger (eds) Academic Press San Diego
    • Johnson MK, Glynn P (2001) Neuropathy target esterase. In: Krieger RI (ed) Handbook of pesticide toxicology. Academic Press, San Diego, pp 953-965
    • (2001) Handbook of Pesticide Toxicology , pp. 953-965
    • Johnson, M.K.1    Glynn, P.2
  • 118
    • 0028241952 scopus 로고
    • X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
    • 7920659 1:CAS:528:DyaK2cXltVGqsrg%3D
    • Jouet M, Rosenthal A, Armstrong G et al (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407
    • (1994) Nat Genet , vol.7 , pp. 402-407
    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3
  • 119
    • 67449132352 scopus 로고    scopus 로고
    • Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients
    • 19453301 1:CAS:528:DC%2BD1MXosVCmt7w%3D
    • Kasher PR, De Vos KJ, Wharton SB et al (2009) Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. J Neurochem 110:34-44
    • (2009) J Neurochem , vol.110 , pp. 34-44
    • Kasher, P.R.1    De Vos, K.J.2    Wharton, S.B.3
  • 120
    • 0034639938 scopus 로고    scopus 로고
    • Neural cell recognition molecule L1: Relating biological complexity to human disease mutations
    • 10767310 1:CAS:528:DC%2BD3cXivFyksbg%3D
    • Kenwrick S, Watkins A, De Angelis E (2000) Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Gen 9:879-886
    • (2000) Hum Mol Gen , vol.9 , pp. 879-886
    • Kenwrick, S.1    Watkins, A.2    De Angelis, E.3
  • 121
    • 33751110649 scopus 로고    scopus 로고
    • PLA2G6 mutation underlies infantile neuroaxonal dystrophy
    • 17033970 1:CAS:528:DC%2BD28XhtFygs7zJ
    • Khateeb S, Flusser H, Ofir R et al (2006) PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet 79:942-948
    • (2006) Am J Hum Genet , vol.79 , pp. 942-948
    • Khateeb, S.1    Flusser, H.2    Ofir, R.3
  • 123
    • 33745107260 scopus 로고    scopus 로고
    • Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    • Klebe S, Azzedine H, Durr A et al (2006) Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129:1456-1462
    • (2006) Brain , vol.129 , pp. 1456-1462
    • Klebe, S.1    Azzedine, H.2    Durr, A.3
  • 124
    • 84861183934 scopus 로고    scopus 로고
    • KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: Distinct phenotypes according to the nature of the mutations
    • 22258533 1:CAS:528:DC%2BC38Xnt1yhurY%3D
    • Klebe S, Lossos A, Azzedine H et al (2012) KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 20:645-649
    • (2012) Eur J Hum Genet , vol.20 , pp. 645-649
    • Klebe, S.1    Lossos, A.2    Azzedine, H.3
  • 125
    • 0028236505 scopus 로고
    • The rumpshaker mutation in spastic paraplegia
    • 7522741 1:CAS:528:DyaK2cXlslKksLY%3D
    • Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet 7:351-352
    • (1994) Nature Genet , vol.7 , pp. 351-352
    • Kobayashi, H.1    Hoffman, E.P.2    Marks, H.G.3
  • 127
    • 78249252333 scopus 로고    scopus 로고
    • Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
    • 20853438 1:CAS:528:DC%2BC3cXhsFOnsrnL
    • Kruer MC, Paisan-Ruiz C, Boddaert N et al (2010) Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 68:611-618
    • (2010) Ann Neurol , vol.68 , pp. 611-618
    • Kruer, M.C.1    Paisan-Ruiz, C.2    Boddaert, N.3
  • 129
    • 33644821035 scopus 로고    scopus 로고
    • Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter
    • 16382784
    • Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y (2005) Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter. Neuropathology 25:346-352
    • (2005) Neuropathology , vol.25 , pp. 346-352
    • Kuru, S.1    Sakai, M.2    Konagaya, M.3    Yoshida, M.4    Hashizume, Y.5
  • 130
    • 84877746215 scopus 로고    scopus 로고
    • Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: Toward a new category of inherited metabolic diseases
    • Lamari F, Mochel F, Sedel F, and Saudubray JM (2012) Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis: 1-15
    • (2012) J Inherit Metab Dis , pp. 1-15
    • Lamari, F.1    Mochel, F.2    Sedel, F.3    Saudubray, J.M.4
  • 131
    • 84864324504 scopus 로고    scopus 로고
    • Neuronal functions of ESCRTs
    • 22438674
    • Lee JA, Gao FB (2012) Neuronal functions of ESCRTs. Exp Neurobiol 21:9-15
    • (2012) Exp Neurobiol , vol.21 , pp. 9-15
    • Lee, J.A.1    Gao, F.B.2
  • 132
    • 57649084368 scopus 로고    scopus 로고
    • A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)
    • 19061983 1:CAS:528:DC%2BD1MXit1Kh
    • Lin P, Li J, Liu Q et al (2008) A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet 83:752-759
    • (2008) Am J Hum Genet , vol.83 , pp. 752-759
    • Lin, P.1    Li, J.2    Liu, Q.3
  • 133
    • 77951748823 scopus 로고    scopus 로고
    • Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred
    • 20306460 1:CAS:528:DC%2BC3cXns1eqtrk%3D
    • Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y (2010) Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. Prenat Diagn 30:485-486
    • (2010) Prenat Diagn , vol.30 , pp. 485-486
    • Lin, P.1    Mao, F.2    Liu, Q.3    Shao, C.4    Yan, C.5    Gong, Y.6
  • 134
    • 85027949861 scopus 로고    scopus 로고
    • SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis
    • 21499309 1:CAS:528:DC%2BC3MXkslCmsLk%3D
    • Lind GE, Raiborg C, Danielsen SA et al (2011) SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis. Oncogene 30:3967-3978
    • (2011) Oncogene , vol.30 , pp. 3967-3978
    • Lind, G.E.1    Raiborg, C.2    Danielsen, S.A.3
  • 135
    • 79951774017 scopus 로고    scopus 로고
    • KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons
    • 1:CAS:528:DC%2BC3MXit1Gntrs%3D
    • Lo KY, Kuzmin A, Unger SM, Petersen JD, Silverman MA (2011) KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons. Neuro Lett 491:168-173
    • (2011) Neuro Lett , vol.491 , pp. 168-173
    • Lo, K.Y.1    Kuzmin, A.2    Unger, S.M.3    Petersen, J.D.4    Silverman, M.A.5
  • 136
    • 33748043331 scopus 로고    scopus 로고
    • The hereditary spastic paraplegia protein spartin localises to mitochondria
    • 16945107 1:CAS:528:DC%2BD28XhtVCksb7E
    • Lu J, Rashid F, Byrne PC (2006) The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem 98:1908-1919
    • (2006) J Neurochem , vol.98 , pp. 1908-1919
    • Lu, J.1    Rashid, F.2    Byrne, P.C.3
  • 137
    • 12944281505 scopus 로고    scopus 로고
    • Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: Parallels with Stiff-Person Syndrome and other movement disorders
    • 15571623
    • Lynex C, Carr I, Leek J et al (2004) Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurology 4:20
    • (2004) BMC Neurology , vol.4 , pp. 20
    • Lynex, C.1    Carr, I.2    Leek, J.3
  • 138
    • 18244377139 scopus 로고    scopus 로고
    • Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
    • 15852396 1:CAS:528:DC%2BD2MXkvFykt7s%3D
    • Macedo-Souza LI, Kok F, Santos S et al (2005) Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol 57:730-737
    • (2005) Ann Neurol , vol.57 , pp. 730-737
    • Macedo-Souza, L.I.1    Kok, F.2    Santos, S.3
  • 139
    • 46149105418 scopus 로고    scopus 로고
    • Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
    • 18463901
    • Macedo-Souza LI, Kok F, Santos S et al (2008) Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics 9:225-226
    • (2008) Neurogenetics , vol.9 , pp. 225-226
    • Macedo-Souza, L.I.1    Kok, F.2    Santos, S.3
  • 140
    • 0034941121 scopus 로고    scopus 로고
    • Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    • 11479539 1:CAS:528:DC%2BD3MXlslejtro%3D
    • Magre J, Delepine M, Khallouf E et al (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28:365-370
    • (2001) Nat Genet , vol.28 , pp. 365-370
    • Magre, J.1    Delepine, M.2    Khallouf, E.3
  • 141
    • 67651154308 scopus 로고    scopus 로고
    • Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration
    • 19625515 1:CAS:528:DC%2BD1MXptlentLY%3D
    • Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G (2009) Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. J Neurosci 29:9244-9254
    • (2009) J Neurosci , vol.29 , pp. 9244-9254
    • Maltecca, F.1    Magnoni, R.2    Cerri, F.3    Cox, G.A.4    Quattrini, A.5    Casari, G.6
  • 142
    • 33746536549 scopus 로고    scopus 로고
    • ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
    • 16826525 1:CAS:528:DC%2BD28XnsVOktL0%3D
    • Mannan AU, Krawen P, Sauter SM et al (2006) ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 79:351-357
    • (2006) Am J Hum Genet , vol.79 , pp. 351-357
    • Mannan, A.U.1    Krawen, P.2    Sauter, S.M.3
  • 143
    • 33646396742 scopus 로고    scopus 로고
    • Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
    • 15980113 1:CAS:528:DC%2BD28XltlKktLk%3D
    • Maranduba CM, Friesema EC, Kok F et al (2006) Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet 43:457-460
    • (2006) J Med Genet , vol.43 , pp. 457-460
    • Maranduba, C.M.1    Friesema, E.C.2    Kok, F.3
  • 144
    • 84865860849 scopus 로고    scopus 로고
    • TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation
    • 22302102 1:CAS:528:DC%2BC38XhtVOhur%2FM
    • Martinez-Lage M, Molina-Porcel L, Falcone D et al (2012) TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. Acta Neuropathol 124:285-291
    • (2012) Acta Neuropathol , vol.124 , pp. 285-291
    • Martinez-Lage, M.1    Molina-Porcel, L.2    Falcone, D.3
  • 145
    • 0345279856 scopus 로고    scopus 로고
    • Genetic localization of a new locus for recessive spastic paraplegia to 15q13-15
    • 10408536 1:STN:280:DyaK1MzjsFShsw%3D%3D
    • Martinez-Murillo F, Kobayashi H, Pegoraro E et al (1999) Genetic localization of a new locus for recessive spastic paraplegia to 15q13-15. Neurology 53:50-56
    • (1999) Neurology , vol.53 , pp. 50-56
    • Martinez-Murillo, F.1    Kobayashi, H.2    Pegoraro, E.3
  • 146
    • 0026330009 scopus 로고
    • Alzheimer's research moves to mice
    • 1907022 1:STN:280:DyaK3Mzhtlektg%3D%3D
    • Marx J (1991) Alzheimer's research moves to mice. Science 253:266-267
    • (1991) Science , vol.253 , pp. 266-267
    • Marx, J.1
  • 147
    • 1942453308 scopus 로고    scopus 로고
    • The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
    • 14998933 1:CAS:528:DC%2BD2cXisF2ltr0%3D
    • Mattiazzi M, Vijayvergiya C, Gajewski CD et al (2004) The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. Hum Mol Genet 13:869-879
    • (2004) Hum Mol Genet , vol.13 , pp. 869-879
    • Mattiazzi, M.1    Vijayvergiya, C.2    Gajewski, C.D.3
  • 148
    • 0035957066 scopus 로고    scopus 로고
    • Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
    • 11222789 1:CAS:528:DC%2BD3MXhvFelsbs%3D
    • McDermott CJ, Dayaratne RK, Tomkins J et al (2001) Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 56:467-471
    • (2001) Neurology , vol.56 , pp. 467-471
    • McDermott, C.J.1    Dayaratne, R.K.2    Tomkins, J.3
  • 149
    • 0033072088 scopus 로고    scopus 로고
    • A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25
    • 9973289 1:CAS:528:DyaK1MXhslOltLY%3D
    • McHale DP, Mitchell S, Bundey S et al (1999) A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. Am J Hum Genet 64:526-532
    • (1999) Am J Hum Genet , vol.64 , pp. 526-532
    • McHale, D.P.1    Mitchell, S.2    Bundey, S.3
  • 150
    • 4844227593 scopus 로고    scopus 로고
    • A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
    • 15455396 1:CAS:528:DC%2BD2cXps1Kit7c%3D
    • Meijer IA, Cossette P, Roussel J, Benard M, Toupin S, Rouleau GA (2004) A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol 56:579-582
    • (2004) Ann Neurol , vol.56 , pp. 579-582
    • Meijer, I.A.1    Cossette, P.2    Roussel, J.3    Benard, M.4    Toupin, S.5    Rouleau, G.A.6
  • 151
    • 77954661330 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
    • 20039086 1:CAS:528:DC%2BC3cXns1ymsLY%3D
    • Meilleur KG, Traore M, Sangare M et al (2010) Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics 11:313-318
    • (2010) Neurogenetics , vol.11 , pp. 313-318
    • Meilleur, K.G.1    Traore, M.2    Sangare, M.3
  • 152
    • 22044432063 scopus 로고    scopus 로고
    • Early-onset ALS with long-term survival associated with spastin gene mutation
    • 16009903 1:STN:280:DC%2BD2Mzls1eqtw%3D%3D
    • Meyer T, Schwan A, Dullinger JS et al (2005) Early-onset ALS with long-term survival associated with spastin gene mutation. Neurology 65:141-143
    • (2005) Neurology , vol.65 , pp. 141-143
    • Meyer, T.1    Schwan, A.2    Dullinger, J.S.3
  • 153
    • 33646915972 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia associated with dopa-responsive Parkinsonism
    • 16463348
    • Micheli F, Cersosimo MG, Zuniga RC (2006) Hereditary spastic paraplegia associated with dopa-responsive Parkinsonism. Mov Disord 21:716-717
    • (2006) Mov Disord , vol.21 , pp. 716-717
    • Micheli, F.1    Cersosimo, M.G.2    Zuniga, R.C.3
  • 154
    • 70350128630 scopus 로고    scopus 로고
    • Identification of novel spartin-interactors shows spartin is a multifunctional protein
    • 19765186 1:CAS:528:DC%2BD1MXhsVSkurzK
    • Milewska M, McRedmond J, Byrne PC (2009) Identification of novel spartin-interactors shows spartin is a multifunctional protein. J Neurochem 111:1022-1030
    • (2009) J Neurochem , vol.111 , pp. 1022-1030
    • Milewska, M.1    McRedmond, J.2    Byrne, P.C.3
  • 156
    • 0031051170 scopus 로고    scopus 로고
    • Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy
    • 9084927 1:STN:280:DyaK2s3jvFaltw%3D%3D
    • Mitchell S, Bundey S (1997) Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. Clin Genet 51(1):7-14
    • (1997) Clin Genet , vol.51 , Issue.1 , pp. 7-14
    • Mitchell, S.1    Bundey, S.2
  • 157
    • 84863011952 scopus 로고    scopus 로고
    • Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
    • 22232211 1:CAS:528:DC%2BC38XitVemu7c%3D
    • Montenegro G, Rebelo AP, Connell J et al (2012) Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 122:538-544
    • (2012) J Clin Invest , vol.122 , pp. 538-544
    • Montenegro, G.1    Rebelo, A.P.2    Connell, J.3
  • 158
    • 79551651120 scopus 로고    scopus 로고
    • Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
    • 20972249 1:CAS:528:DC%2BC3MXht1WmtbnL
    • Moreno-De-Luca A, Helmers SL, Mao H et al (2011) Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 48:141-144
    • (2011) J Med Genet , vol.48 , pp. 141-144
    • Moreno-De-Luca, A.1    Helmers, S.L.2    Mao, H.3
  • 160
    • 10744225170 scopus 로고    scopus 로고
    • Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
    • 14658060 1:STN:280:DC%2BD2c7gtFaluw%3D%3D
    • Muglia M, Criscuolo C, Magariello A et al (2004) Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. Neurogenetics 5:49-54
    • (2004) Neurogenetics , vol.5 , pp. 49-54
    • Muglia, M.1    Criscuolo, C.2    Magariello, A.3
  • 161
    • 68249133789 scopus 로고    scopus 로고
    • Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and neuropathologic evidence
    • 19652142 1:STN:280:DC%2BD1Mrjt1CktA%3D%3D
    • Murphy S, Gorman G, Beetz C et al (2009) Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. Neurology 73:378-384
    • (2009) Neurology , vol.73 , pp. 378-384
    • Murphy, S.1    Gorman, G.2    Beetz, C.3
  • 162
    • 80053906761 scopus 로고    scopus 로고
    • Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    • 21937992 1:CAS:528:DC%2BC3MXht1SlurfJ
    • Najmabadi H, Hu H, Garshasbi M et al (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478:57-63
    • (2011) Nature , vol.478 , pp. 57-63
    • Najmabadi, H.1    Hu, H.2    Garshasbi, M.3
  • 163
    • 10844278272 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia with cerebellar ataxia: A complex phenotype associated with a new SPG4 gene mutation
    • 15667412 1:STN:280:DC%2BD2M%2FktVakuw%3D%3D
    • Nielsen JE, Johnsen B, Koefoed P et al (2004) Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol 11:817-824
    • (2004) Eur J Neurol , vol.11 , pp. 817-824
    • Nielsen, J.E.1    Johnsen, B.2    Koefoed, P.3
  • 164
    • 0030807772 scopus 로고    scopus 로고
    • CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
    • 9302257 1:CAS:528:DyaK2sXmslGks74%3D
    • Nielsen JE, Koefoed P, Abell K et al (1997) CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 6:1811-1816
    • (1997) Hum Mol Genet , vol.6 , pp. 1811-1816
    • Nielsen, J.E.1    Koefoed, P.2    Abell, K.3
  • 165
    • 0026728885 scopus 로고
    • Hereditary spastic paraplegia
    • 1603615 1:STN:280:DyaK383ptlymug%3D%3D
    • Nimityongskul P, Anderson LD, Sri P (1992) Hereditary spastic paraplegia. Orthop Rev 21:643-646
    • (1992) Orthop Rev , vol.21 , pp. 643-646
    • Nimityongskul, P.1    Anderson, L.D.2    Sri, P.3
  • 166
    • 0034773892 scopus 로고    scopus 로고
    • Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology
    • 11666018 1:STN:280:DC%2BD3MrmsVWmsg%3D%3D
    • Nomura H, Koike F, Tsuruta Y, Iwaki A, Iwaki T (2001) Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology. Neuropathology 21:212-217
    • (2001) Neuropathology , vol.21 , pp. 212-217
    • Nomura, H.1    Koike, F.2    Tsuruta, Y.3    Iwaki, A.4    Iwaki, T.5
  • 167
    • 77249126425 scopus 로고    scopus 로고
    • SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
    • 20110243
    • Orlacchio A, Babalini C, Borreca A et al (2010) SPATACSIN mutations cause
    • (2010) Brain , vol.133 , pp. 591-598
    • Orlacchio, A.1    Babalini, C.2    Borreca, A.3
  • 168
    • 2442687877 scopus 로고    scopus 로고
    • A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
    • 15159500 1:CAS:528:DC%2BD2cXjs1yltLY%3D
    • Orlacchio A, Gaudiello F, Totaro A et al (2004) A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 62:1875-1878
    • (2004) Neurology , vol.62 , pp. 1875-1878
    • Orlacchio, A.1    Gaudiello, F.2    Totaro, A.3
  • 169
    • 2942590954 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Clinical genetic study of 15 families
    • 15210521
    • Orlacchio A, Kawarai T, Totaro A et al (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61:849-855
    • (2004) Arch Neurol , vol.61 , pp. 849-855
    • Orlacchio, A.1    Kawarai, T.2    Totaro, A.3
  • 170
    • 79961023393 scopus 로고    scopus 로고
    • Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation
    • 21336785
    • Orlacchio A, Montieri P, Babalini C, Gaudiello F, Bernardi G, Kawarai T (2011) Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. J Neurol 258:1361-1363
    • (2011) J Neurol , vol.258 , pp. 1361-1363
    • Orlacchio, A.1    Montieri, P.2    Babalini, C.3    Gaudiello, F.4    Bernardi, G.5    Kawarai, T.6
  • 171
    • 44949220168 scopus 로고    scopus 로고
    • Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4
    • 18401025 1:STN:280:DC%2BD1czisFeksQ%3D%3D
    • Orlacchio A, Patrono C, Gaudiello F et al (2008) Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. Neurology 70:1959-1966
    • (2008) Neurology , vol.70 , pp. 1959-1966
    • Orlacchio, A.1    Patrono, C.2    Gaudiello, F.3
  • 172
    • 60149110304 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
    • 19056803
    • Orthmann-Murphy JL, Salsano E, Abrams CK et al (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 132:426-438
    • (2009) Brain , vol.132 , pp. 426-438
    • Orthmann-Murphy, J.L.1    Salsano, E.2    Abrams, C.K.3
  • 173
    • 84870886343 scopus 로고    scopus 로고
    • Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis
    • 23176824 1:CAS:528:DC%2BC38XhsleisLrN
    • Oz-Levi D, Ben-Zeev B, Ruzzo E et al (2012) Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet 91:1065-1072
    • (2012) Am J Hum Genet , vol.91 , pp. 1065-1072
    • Oz-Levi, D.1    Ben-Zeev, B.2    Ruzzo, E.3
  • 174
    • 77951172861 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    • 20200447 1:CAS:528:DC%2BC3cXksVChsL0%3D
    • Park SH, Zhu P-P, Parker RL, Blackstone C (2010) Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest 120:1097-1110
    • (2010) J Clin Invest , vol.120 , pp. 1097-1110
    • Park, S.H.1    Zhu, P.-P.2    Parker, R.L.3    Blackstone, C.4
  • 175
    • 77951172861 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    • 20200447 1:CAS:528:DC%2BC3cXksVChsL0%3D
    • Park SH, Zhu PP, Parker RL, Blackstone C (2010) Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest 120:1097-1110
    • (2010) J Clin Invest , vol.120 , pp. 1097-1110
    • Park, S.H.1    Zhu, P.P.2    Parker, R.L.3    Blackstone, C.4
  • 176
    • 0036699065 scopus 로고    scopus 로고
    • SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
    • 12134148 1:CAS:528:DC%2BD38Xls1Ors7Y%3D
    • Patel H, Cross H, Proukakis C et al (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 31:347-348
    • (2002) Nat Genet , vol.31 , pp. 347-348
    • Patel, H.1    Cross, H.2    Proukakis, C.3
  • 177
    • 0034969438 scopus 로고    scopus 로고
    • The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
    • 11389484 1:CAS:528:DC%2BD3MXls1emtLo%3D
    • Patel H, Hart PE, Warner TT et al (2001) The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet 69:209-215
    • (2001) Am J Hum Genet , vol.69 , pp. 209-215
    • Patel, H.1    Hart, P.E.2    Warner, T.T.3
  • 178
    • 17444432925 scopus 로고    scopus 로고
    • Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
    • 9847083 1:CAS:528:DyaK1cXotVWgtb0%3D
    • Paternotte C, Rudnicki D, Fizames C et al (1998) Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res 8:1216-1227
    • (1998) Genome Res , vol.8 , pp. 1216-1227
    • Paternotte, C.1    Rudnicki, D.2    Fizames, C.3
  • 180
    • 4644268519 scopus 로고    scopus 로고
    • Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia
    • 15372254
    • Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH (2004) Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol 251:1105-1110
    • (2004) J Neurol , vol.251 , pp. 1105-1110
    • Proukakis, C.1    Cross, H.2    Patel, H.3    Patton, M.A.4    Valentine, A.5    Crosby, A.H.6
  • 181
    • 41149133870 scopus 로고    scopus 로고
    • Neuropathy target esterase gene mutations cause motor neuron disease
    • 18313024 1:CAS:528:DC%2BD1cXksVGrurY%3D
    • Rainier S, Bui M, Mark E et al (2008) Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82:780-785
    • (2008) Am J Hum Genet , vol.82 , pp. 780-785
    • Rainier, S.1    Bui, M.2    Mark, E.3
  • 182
    • 0142122897 scopus 로고    scopus 로고
    • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
    • 14508710 1:CAS:528:DC%2BD3sXotF2hs7g%3D
    • Rainier S, Chai J-H, Tokarz D, Nicholls RD, Fink JK (2003) NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 73:967-971
    • (2003) Am J Hum Genet , vol.73 , pp. 967-971
    • Rainier, S.1    Chai, J.-H.2    Tokarz, D.3    Nicholls, R.D.4    Fink, J.K.5
  • 183
    • 35748938579 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Clinical features and animal models
    • M. Ledoux (eds) Elseivier Academic Press New York
    • Rainier S, Fink JK (2005) Hereditary spastic paraplegia: clinical features and animal models. In: Ledoux M (ed) Animal models of movement disorders. Elseivier Academic Press, New York, pp 687-690
    • (2005) Animal Models of Movement Disorders , pp. 687-690
    • Rainier, S.1    Fink, J.K.2
  • 184
    • 33644895434 scopus 로고    scopus 로고
    • De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
    • 16533974
    • Rainier S, Sher C, Reish O, Thomas D, Fink JK (2006) De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol 63:445-447
    • (2006) Arch Neurol , vol.63 , pp. 445-447
    • Rainier, S.1    Sher, C.2    Reish, O.3    Thomas, D.4    Fink, J.K.5
  • 185
    • 0031025555 scopus 로고    scopus 로고
    • Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation and haplotype mapping of the SPG4 locus on the short arm of chromosome 2
    • 1:STN:280:DyaK2s7os1ChtQ%3D%3D
    • Raskind WH, Pericak-Vance MA, Lennon F, Wolff J, Lipe HP, Bird TD (1997) Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am J Hum Genet 74:26-36
    • (1997) Am J Hum Genet , vol.74 , pp. 26-36
    • Raskind, W.H.1    Pericak-Vance, M.A.2    Lennon, F.3    Wolff, J.4    Lipe, H.P.5    Bird, T.D.6
  • 186
    • 34347231894 scopus 로고    scopus 로고
    • Possible anticipation in hereditary spastic paraplegia type 4 (SPG4)
    • 17598599
    • Reddy PL, Seltzer WK, Grewal RP (2007) Possible anticipation in hereditary spastic paraplegia type 4 (SPG4). Can J Neurol Sci 34:208-210
    • (2007) Can J Neurol Sci , vol.34 , pp. 208-210
    • Reddy, P.L.1    Seltzer, W.K.2    Grewal, R.P.3
  • 187
    • 12344250580 scopus 로고    scopus 로고
    • The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
    • 15537668 1:CAS:528:DC%2BD2MXitFGmsA%3D%3D
    • Reid E, Connell J, Edwards S, Duley S, Brown SE, Sanderson CM (2005) The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum Mol Gen 14:19-38
    • (2005) Hum Mol Gen , vol.14 , pp. 19-38
    • Reid, E.1    Connell, J.2    Edwards, S.3    Duley, S.4    Brown, S.E.5    Sanderson, C.M.6
  • 188
    • 0033912569 scopus 로고    scopus 로고
    • A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13
    • 10677333 1:CAS:528:DC%2BD3cXitFyitbg%3D
    • Reid E, Dearlove AM, Osborn M, Rogers T, Rubinsztein DC (2000) A locus for autosomal dominant "Pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 66:728-732
    • (2000) Am J Hum Genet , vol.66 , pp. 728-732
    • Reid, E.1    Dearlove, A.M.2    Osborn, M.3    Rogers, T.4    Rubinsztein, D.C.5
  • 189
    • 0033362081 scopus 로고    scopus 로고
    • A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity
    • 10441583 1:CAS:528:DyaK1MXmt1egtLc%3D
    • Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (1999) A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity. Am J Hum Genet 65:757-763
    • (1999) Am J Hum Genet , vol.65 , pp. 757-763
    • Reid, E.1    Dearlove, A.M.2    Rhodes, M.3    Rubinsztein, D.C.4
  • 190
    • 0032880071 scopus 로고    scopus 로고
    • Subclinical cognitive impairment in autosomal dominant 'pure' hereditary spastic paraplegia
    • 10528866 1:STN:280:DyaK1Mvls1Wgtg%3D%3D
    • Reid E, Grayson C, Rubinsztein DC, Rogers MT, Rubinsztein JS (1999) Subclinical cognitive impairment in autosomal dominant 'pure' hereditary spastic paraplegia. J Med Genet 36:797-798
    • (1999) J Med Genet , vol.36 , pp. 797-798
    • Reid, E.1    Grayson, C.2    Rubinsztein, D.C.3    Rogers, M.T.4    Rubinsztein, J.S.5
  • 191
    • 33745521432 scopus 로고    scopus 로고
    • A new phenotype linked to SPG27 and refinement of the critical region on chromosome
    • 16511635
    • Ribai P, Stevanin G, Bouslam N et al (2006) A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol 253:714-719
    • (2006) J Neurol , vol.253 , pp. 714-719
    • Ribai, P.1    Stevanin, G.2    Bouslam, N.3
  • 192
    • 0018340343 scopus 로고
    • Subcellular distribution of marker enzymes and of neurotoxic esterase in adult hen brain
    • 216779 1:CAS:528:DyaE1MXltlGit7c%3D
    • Richardson RJ, Davis CS, Johnson MK (1979) Subcellular distribution of marker enzymes and of neurotoxic esterase in adult hen brain. J Neurochem 32:607-615
    • (1979) J Neurochem , vol.32 , pp. 607-615
    • Richardson, R.J.1    Davis, C.S.2    Johnson, M.K.3
  • 193
    • 44349157134 scopus 로고    scopus 로고
    • Atlastin GTPases are required for Golgi apparatus and ER morphogenesis
    • 18270207 1:CAS:528:DC%2BD1cXmvFSrtLc%3D
    • Rismanchi N, Soderblom C, Stadler J, Zhu P-P, Blackstone C (2008) Atlastin GTPases are required for Golgi apparatus and ER morphogenesis. Hum Mol Gen 17:1591-1604
    • (2008) Hum Mol Gen , vol.17 , pp. 1591-1604
    • Rismanchi, N.1    Soderblom, C.2    Stadler, J.3    Zhu, P.-P.4    Blackstone, C.5
  • 194
    • 17144424690 scopus 로고    scopus 로고
    • The drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules
    • 15823537 1:CAS:528:DC%2BD2MXjtV2isbc%3D
    • Roll-Mecak A, Vale RD (2005) The drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. Curr Biol 15:650-655
    • (2005) Curr Biol , vol.15 , pp. 650-655
    • Roll-Mecak, A.1    Vale, R.D.2
  • 195
    • 38349097870 scopus 로고    scopus 로고
    • Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin
    • 18202664 1:CAS:528:DC%2BD1cXnt1Gjuw%3D%3D
    • Roll-Mecak A, Vale RD (2008) Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature 451:363-367
    • (2008) Nature , vol.451 , pp. 363-367
    • Roll-Mecak, A.1    Vale, R.D.2
  • 196
    • 79958707744 scopus 로고    scopus 로고
    • Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: The WASH complex member SWIP
    • 21498477 1:CAS:528:DC%2BC3MXntlGlsLg%3D
    • Ropers F, Derivery E, Hu H et al (2011) Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 20:2585-2590
    • (2011) Hum Mol Genet , vol.20 , pp. 2585-2590
    • Ropers, F.1    Derivery, E.2    Hu, H.3
  • 197
    • 0018169181 scopus 로고
    • Familial spastic paraplegia: Clinical and pathologic studies in a large kindred
    • 703033 1:STN:280:DyaE1M%2FjtVChsw%3D%3D
    • Sack GH, Huether CA, Garg N (1978) Familial spastic paraplegia: clinical and pathologic studies in a large kindred. Johns Hopkins Med J 143:117-121
    • (1978) Johns Hopkins Med J , vol.143 , pp. 117-121
    • Sack, G.H.1    Huether, C.A.2    Garg, N.3
  • 198
    • 31144453436 scopus 로고    scopus 로고
    • Spastin and atlastin, two proteins mutated in autosomal dominant hereditary spastic paraplegia, are binding partners
    • 16339213 1:CAS:528:DC%2BD28XktF2mtQ%3D%3D
    • Sanderson CM, Connell JW, Edwards TL et al (2006) Spastin and atlastin, two proteins mutated in autosomal dominant hereditary spastic paraplegia, are binding partners. Hum Mol Gen 15:307-318
    • (2006) Hum Mol Gen , vol.15 , pp. 307-318
    • Sanderson, C.M.1    Connell, J.W.2    Edwards, T.L.3
  • 199
    • 77957328253 scopus 로고    scopus 로고
    • Molecular mechanisms of gap junction mutations in myelinating cells
    • 20607661 1:CAS:528:DC%2BC3cXhtVGksbjM
    • Sargiannidou I, Markoullis K, Kleopa KA (2010) Molecular mechanisms of gap junction mutations in myelinating cells. Histol Histopathol 25:1191-1206
    • (2010) Histol Histopathol , vol.25 , pp. 1191-1206
    • Sargiannidou, I.1    Markoullis, K.2    Kleopa, K.A.3
  • 200
    • 0028239867 scopus 로고
    • X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • 8012387 1:CAS:528:DyaK2cXivFWgtr0%3D
    • Saugier-Veber P, Munnich A, Bonneau D et al (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 6:257-262
    • (1994) Nature Genet , vol.6 , pp. 257-262
    • Saugier-Veber, P.1    Munnich, A.2    Bonneau, D.3
  • 201
    • 77955984633 scopus 로고    scopus 로고
    • A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
    • 20461110 1:CAS:528:DC%2BC3cXhtVCnurnL
    • Schlipf NA, Beetz C, Schule R et al (2010) A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet 18:1065-1067
    • (2010) Eur J Hum Genet , vol.18 , pp. 1065-1067
    • Schlipf, N.A.1    Beetz, C.2    Schule, R.3
  • 202
    • 67650066946 scopus 로고    scopus 로고
    • Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24
    • 19357379 1:STN:280:DC%2BD1MzotVylsQ%3D%3D
    • Schule R, Bonin M, Durr A et al (2009) Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology 72:1893-1898
    • (2009) Neurology , vol.72 , pp. 1893-1898
    • Schule, R.1    Bonin, M.2    Durr, A.3
  • 203
    • 84870879483 scopus 로고    scopus 로고
    • Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
    • 23176823 1:CAS:528:DC%2BC38Xhslaqu77I
    • Schuurs-Hoeijmakers J, Geraghty M, Kamsteeg EJ et al (2012) Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 91:1073-1081
    • (2012) Am J Hum Genet , vol.91 , pp. 1073-1081
    • Schuurs-Hoeijmakers, J.1    Geraghty, M.2    Kamsteeg, E.J.3
  • 204
    • 0004709140 scopus 로고
    • Hereditary (familial) spastic paraplegia
    • 12984880 1:STN:280:DyaG3s%2FgvFWhsw%3D%3D
    • Schwarz GA (1952) Hereditary (familial) spastic paraplegia. AMA Arch Neurol Psychiatry 68:655-682
    • (1952) AMA Arch Neurol Psychiatry , vol.68 , pp. 655-682
    • Schwarz, G.A.1
  • 205
    • 0001519052 scopus 로고
    • Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations
    • 13282534 1:STN:280:DyaG28%2FjsVOiug%3D%3D
    • Schwarz GA, Liu C-N (1956) Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations. AMA Arch Neurol Psychiatry 75:144-162
    • (1956) AMA Arch Neurol Psychiatry , vol.75 , pp. 144-162
    • Schwarz, G.A.1    Liu, C.-N.2
  • 206
    • 0033069503 scopus 로고    scopus 로고
    • Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
    • 9973297 1:CAS:528:DyaK1MXhslOltbg%3D
    • Seri M, Cusano R, Forabosco P et al (1999) Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 64:586-593
    • (1999) Am J Hum Genet , vol.64 , pp. 586-593
    • Seri, M.1    Cusano, R.2    Forabosco, P.3
  • 207
    • 84872042551 scopus 로고    scopus 로고
    • A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    • 23188110 1:CAS:528:DC%2BC3sXhvFGltb4%3D
    • Shimazaki H, Takiyama Y, Ishiura H et al (2012) A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet 49:777-784
    • (2012) J Med Genet , vol.49 , pp. 777-784
    • Shimazaki, H.1    Takiyama, Y.2    Ishiura, H.3
  • 208
    • 0242691095 scopus 로고    scopus 로고
    • Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
    • 14564668 1:CAS:528:DC%2BD3sXptVGns7Y%3D
    • Simpson MA, Cross H, Proukakis C et al (2003) Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 73:1147-1156
    • (2003) Am J Hum Genet , vol.73 , pp. 1147-1156
    • Simpson, M.A.1    Cross, H.2    Proukakis, C.3
  • 209
    • 77954706670 scopus 로고    scopus 로고
    • A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
    • 20613862
    • Slabicki M, Theis M, Krastev DB et al (2010) A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol 8:e1000408
    • (2010) PLoS Biol , vol.8 , pp. 1000408
    • Slabicki, M.1    Theis, M.2    Krastev, D.B.3
  • 210
    • 31744452157 scopus 로고    scopus 로고
    • Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis
    • 16352904
    • Sperfeld AD, Baumgartner A, Kassubek J (2005) Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis. Eur Neurol 54:181-185
    • (2005) Eur Neurol , vol.54 , pp. 181-185
    • Sperfeld, A.D.1    Baumgartner, A.2    Kassubek, J.3
  • 211
    • 0036006720 scopus 로고    scopus 로고
    • Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: Myelination and development
    • Sporkrl O, Uschkureit T, Bussow H, Stoffel W (2002) Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: myelination and development. Glia 37:19-30
    • (2002) Glia , vol.37 , pp. 19-30
    • Sporkrl, O.1    Uschkureit, T.2    Bussow, H.3    Stoffel, W.4
  • 213
    • 33847298447 scopus 로고    scopus 로고
    • Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
    • 17322883 1:CAS:528:DC%2BD2sXitVOktrk%3D
    • Stevanin G, Santorelli FM, Azzedine H et al (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Genet 39:366-372
    • (2007) Nature Genet , vol.39 , pp. 366-372
    • Stevanin, G.1    Santorelli, F.M.2    Azzedine, H.3
  • 214
    • 67650914293 scopus 로고    scopus 로고
    • Identification of a new form of autosomal dominant spastic paraplegia
    • 19519683 1:CAS:528:DC%2BD1MXpvFynsb4%3D
    • Subramony SH, Nguyen TV, Langford L, Lin X, Parent AD, Zhang J (2009) Identification of a new form of autosomal dominant spastic paraplegia. Clin Genet 76:113-116
    • (2009) Clin Genet , vol.76 , pp. 113-116
    • Subramony, S.H.1    Nguyen, T.V.2    Langford, L.3    Lin, X.4    Parent, A.D.5    Zhang, J.6
  • 215
    • 82355190033 scopus 로고    scopus 로고
    • An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene
    • Suzuki SO, Iwaki T, Arakawa K, Furuya H, Fujii N, Iwaki A (2011) An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene. Acta Neuropathol 122:755-781
    • (2011) Acta Neuropathol , vol.122 , pp. 755-781
    • Suzuki, S.O.1    Iwaki, T.2    Arakawa, K.3    Furuya, H.4    Fujii, N.5    Iwaki, A.6
  • 217
    • 0034605365 scopus 로고    scopus 로고
    • Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2
    • 10982474 1:STN:280:DC%2BD3cvmtFCisA%3D%3D
    • Tamagaki A, Shima M, Tomita R et al (2000) Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet 94:5-8
    • (2000) Am J Med Genet , vol.94 , pp. 5-8
    • Tamagaki, A.1    Shima, M.2    Tomita, R.3
  • 218
    • 4344633672 scopus 로고    scopus 로고
    • Clinical features of hereditary spastic paraplegia with thin corpus callosum: Report of 5 Chinese cases
    • Tang BS, Chen X, Zhao GH et al (2004) Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. Chin Med J (Engl) 117:1002-1005
    • (2004) Chin Med J (Engl) , vol.117 , pp. 1002-1005
    • Tang, B.S.1    Chen, X.2    Zhao, G.H.3
  • 219
    • 84870900912 scopus 로고    scopus 로고
    • Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
    • 23176821 1:CAS:528:DC%2BC38Xhslejur7N
    • Tesson C, Nawara M, Salih M et al (2012) Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 91:1051-1064
    • (2012) Am J Hum Genet , vol.91 , pp. 1051-1064
    • Tesson, C.1    Nawara, M.2    Salih, M.3
  • 220
    • 77954657997 scopus 로고    scopus 로고
    • Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene
    • 19714378 1:CAS:528:DC%2BC3cXkvVynurs%3D
    • Thomsen B, Nissen PH, Agerholm JS, Bendixen C (2010) Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene. Neurogenetics 11:175-183
    • (2010) Neurogenetics , vol.11 , pp. 175-183
    • Thomsen, B.1    Nissen, P.H.2    Agerholm, J.S.3    Bendixen, C.4
  • 221
    • 70349579493 scopus 로고    scopus 로고
    • The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
    • 19620182 1:CAS:528:DC%2BD1MXhtFyhurfL
    • Tsang HT, Edwards TL, Wang X et al (2009) The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum Mol Genet 18:3805-3821
    • (2009) Hum Mol Genet , vol.18 , pp. 3805-3821
    • Tsang, H.T.1    Edwards, T.L.2    Wang, X.3
  • 222
    • 40749142468 scopus 로고    scopus 로고
    • Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
    • 18252231 1:CAS:528:DC%2BD1cXit1Sisrc%3D
    • Tsaousidou MK, Ouahchi K, Warner TT et al (2008) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82:510-515
    • (2008) Am J Hum Genet , vol.82 , pp. 510-515
    • Tsaousidou, M.K.1    Ouahchi, K.2    Warner, T.T.3
  • 224
    • 34248220446 scopus 로고    scopus 로고
    • Cognitive performance in pure and complicated hereditary spastic paraparesis: A neuropsychological and neuroimaging study
    • 17485167 1:CAS:528:DC%2BD2sXlt1Sjsr4%3D
    • Uttner I, Baumgartner A, Sperfeld AD, Kassubek J (2007) Cognitive performance in pure and complicated hereditary spastic paraparesis: a neuropsychological and neuroimaging study. Neurosci Lett 419:158-161
    • (2007) Neurosci Lett , vol.419 , pp. 158-161
    • Uttner, I.1    Baumgartner, A.2    Sperfeld, A.D.3    Kassubek, J.4
  • 225
    • 33845991876 scopus 로고    scopus 로고
    • Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
    • 17160902 1:CAS:528:DC%2BD2sXms1CmtQ%3D%3D
    • Valdmanis PN, Meijer IA, Reynolds A et al (2007) Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 80:152-161
    • (2007) Am J Hum Genet , vol.80 , pp. 152-161
    • Valdmanis, P.N.1    Meijer, I.A.2    Reynolds, A.3
  • 226
    • 0036260783 scopus 로고    scopus 로고
    • Novel locus for autosomal dominant pure heredtiary spastic paraplegia (SPG19) maps to chromosome 9q22-q34
    • 12112072 1:CAS:528:DC%2BD3sXhsFygsb8%3D
    • Valente EM, Brancati F, Caputo V, Patrono C, Costanti D, Dallapiccola B (2002) Novel locus for autosomal dominant pure heredtiary spastic paraplegia (SPG19) maps to chromosome 9q22-q34. Ann Neurol 51:681-685
    • (2002) Ann Neurol , vol.51 , pp. 681-685
    • Valente, E.M.1    Brancati, F.2    Caputo, V.3    Patrono, C.4    Costanti, D.5    Dallapiccola, B.6
  • 227
    • 0019508659 scopus 로고
    • The spinal canal in famlial spastic paraplegia
    • 7215397 1:STN:280:DyaL3M7msVGqtw%3D%3D
    • Vassilopoulos D, Spengos M, Zoumbou V, Scarpalezos S (1981) The spinal canal in famlial spastic paraplegia. Eur Neurol 20:110-114
    • (1981) Eur Neurol , vol.20 , pp. 110-114
    • Vassilopoulos, D.1    Spengos, M.2    Zoumbou, V.3    Scarpalezos, S.4
  • 228
    • 0033868486 scopus 로고    scopus 로고
    • A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy SPG14, maps to chromosome 3q27-q28
    • 10877981 1:CAS:528:DC%2BD3cXntVyqsb0%3D
    • Vazza GZM, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML (2000) A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy SPG14, maps to chromosome 3q27-q28. Am J Hum Genet 67:504-509
    • (2000) Am J Hum Genet , vol.67 , pp. 504-509
    • Vazza, G.Z.M.1    Boaretto, F.2    Micaglio, G.F.3    Sartori, V.4    Mostacciuolo, M.L.5
  • 229
    • 67649587137 scopus 로고    scopus 로고
    • Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
    • 19559397 1:CAS:528:DC%2BD1MXhtVelt7fL
    • Verkerk AJ, Schot R, Dumee B et al (2009) Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 85:40-52
    • (2009) Am J Hum Genet , vol.85 , pp. 40-52
    • Verkerk, A.J.1    Schot, R.2    Dumee, B.3
  • 230
    • 78649984334 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
    • 20656066 1:CAS:528:DC%2BC3cXhsFGht77L
    • Verny C, Guegen N, Desquiret V et al (2011) Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Mitochondrion 11:70-75
    • (2011) Mitochondrion , vol.11 , pp. 70-75
    • Verny, C.1    Guegen, N.2    Desquiret, V.3
  • 232
    • 0035144658 scopus 로고    scopus 로고
    • Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules
    • 11194944 1:STN:280:DC%2BD3M7ltlKltA%3D%3D
    • Wakabayashi K, Kobayashi H, Kawasaki S, Kondo H, Takahashi H (2001) Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules. Acta Neuropathol 101:69-73
    • (2001) Acta Neuropathol , vol.101 , pp. 69-73
    • Wakabayashi, K.1    Kobayashi, H.2    Kawasaki, S.3    Kondo, H.4    Takahashi, H.5
  • 233
    • 84861940241 scopus 로고    scopus 로고
    • ERLIN2 promotes breast cancer cell survival by modulating endoplasmic reticulum stress pathways
    • 22681620 1:CAS:528:DC%2BC38XhsFyhu7nN
    • Wang G, Liu G, Wang X et al (2012) ERLIN2 promotes breast cancer cell survival by modulating endoplasmic reticulum stress pathways. BMC Cancer 12:225
    • (2012) BMC Cancer , vol.12 , pp. 225
    • Wang, G.1    Liu, G.2    Wang, X.3
  • 234
    • 77949523055 scopus 로고    scopus 로고
    • A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects
    • 20108356
    • Warnecke T, Duning T, Schirmacher A et al (2010) A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. Mov Disord 25:413-420
    • (2010) Mov Disord , vol.25 , pp. 413-420
    • Warnecke, T.1    Duning, T.2    Schirmacher, A.3
  • 235
    • 0031976287 scopus 로고    scopus 로고
    • Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
    • 9577388
    • Webb S, Coleman D, Byrne P et al (1998) Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 121:601-609
    • (1998) Brain , vol.121 , pp. 601-609
    • Webb, S.1    Coleman, D.2    Byrne, P.3
  • 236
    • 0242693281 scopus 로고    scopus 로고
    • The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
    • 14656074 1:CAS:528:DC%2BD3sXpslGntL8%3D
    • Wharton SB, McDermott CJ, Grierson AJ et al (2003) The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol 62:1166-1177
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 1166-1177
    • Wharton, S.B.1    McDermott, C.J.2    Grierson, A.J.3
  • 237
    • 0034641262 scopus 로고    scopus 로고
    • Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation
    • 10891911 1:STN:280:DC%2BD3czovVOksg%3D%3D
    • White KD, Ince PG, Lusher M et al (2000) Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 55:89-94
    • (2000) Neurology , vol.55 , pp. 89-94
    • White, K.D.1    Ince, P.G.2    Lusher, M.3
  • 238
    • 0022511890 scopus 로고
    • Familial cerebral palsy associated with normal intelligence
    • 3809072 1:STN:280:DyaL2s7hslyqtA%3D%3D
    • Wild NJ, Rosenbloom L (1986) Familial cerebral palsy associated with normal intelligence. Postgrad Med J 62:827-830
    • (1986) Postgrad Med J , vol.62 , pp. 827-830
    • Wild, N.J.1    Rosenbloom, L.2
  • 239
    • 0038119314 scopus 로고    scopus 로고
    • A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
    • 12874406 1:STN:280:DC%2BD3szkt1ersQ%3D%3D
    • Wilkinson PA, Crosby AH, Turner C et al (2003) A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology 61:235-238
    • (2003) Neurology , vol.61 , pp. 235-238
    • Wilkinson, P.A.1    Crosby, A.H.2    Turner, C.3
  • 240
    • 19944434326 scopus 로고    scopus 로고
    • A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
    • 15635080 1:CAS:528:DC%2BD2MXht1KltL0%3D
    • Wilkinson PA, Simpson MA, Bastaki L et al (2005) A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet 42:80-82
    • (2005) J Med Genet , vol.42 , pp. 80-82
    • Wilkinson, P.A.1    Simpson, M.A.2    Bastaki, L.3
  • 241
    • 10744229057 scopus 로고    scopus 로고
    • Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    • 14981520 1:CAS:528:DC%2BD2cXhsFOnsLw%3D
    • Windpassinger C, Auer-Grumbach M, Irobi J et al (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36:271-276
    • (2004) Nat Genet , vol.36 , pp. 271-276
    • Windpassinger, C.1    Auer-Grumbach, M.2    Irobi, J.3
  • 242
    • 0347949644 scopus 로고    scopus 로고
    • Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11)
    • 14732628
    • Winner B, Uyanik G, Gross C et al (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol 61:117-121
    • (2004) Arch Neurol , vol.61 , pp. 117-121
    • Winner, B.1    Uyanik, G.2    Gross, C.3
  • 243
    • 0037380036 scopus 로고    scopus 로고
    • Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity
    • 12640454 1:CAS:528:DC%2BD3sXisVGit7w%3D
    • Winrow CJ, Hemming ML, Allen DM, Quistad GB, Casida JE, Barlow C (2003) Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity. Nature Genet 33:477-485
    • (2003) Nature Genet , vol.33 , pp. 477-485
    • Winrow, C.J.1    Hemming, M.L.2    Allen, D.M.3    Quistad, G.B.4    Casida, J.E.5    Barlow, C.6
  • 244
    • 84866550835 scopus 로고    scopus 로고
    • Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia
    • 22392442
    • Woehrer A, Laszlo L, Finsterer J et al (2012) Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia. Acta Neuropathol 124:583-591
    • (2012) Acta Neuropathol , vol.124 , pp. 583-591
    • Woehrer, A.1    Laszlo, L.2    Finsterer, J.3
  • 245
    • 0037437149 scopus 로고    scopus 로고
    • Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain K1F5A
    • 12682084 1:CAS:528:DC%2BD3sXjtVaitrc%3D
    • Xia CH, Roberts EA, Her LS et al (2003) Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain K1F5A. J Cell Biol 161:55-66
    • (2003) J Cell Biol , vol.161 , pp. 55-66
    • Xia, C.H.1    Roberts, E.A.2    Her, L.S.3
  • 246
    • 77952547097 scopus 로고    scopus 로고
    • Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1
    • 1:CAS:528:DC%2BC3cXmslCnsbg%3D
    • Yamashita A, Kumazawa T, Koga H, Suzuki N, Oka S, Sugiura T (2010) Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1. Biochimica et Biophysica Acta (BBA) - Mol Cell Biol Lipids 1801:711-720
    • (2010) Biochimica et Biophysica Acta (BBA) - Mol Cell Biol Lipids , vol.1801 , pp. 711-720
    • Yamashita, A.1    Kumazawa, T.2    Koga, H.3    Suzuki, N.4    Oka, S.5    Sugiura, T.6
  • 247
    • 2642587371 scopus 로고    scopus 로고
    • Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells
    • 1:CAS:528:DC%2BD2cXksV2is78%3D
    • Zaccheo O, Dinsdale D, Meacock PA, Glynn P (2004) Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. J Bio Chem 279:24024-24033
    • (2004) J Bio Chem , vol.279 , pp. 24024-24033
    • Zaccheo, O.1    Dinsdale, D.2    Meacock, P.A.3    Glynn, P.4
  • 248
    • 77956328999 scopus 로고    scopus 로고
    • CRASH syndrome: Does it teach us about neurotrophic functions of cell adhesion molecules?
    • 20817921
    • Zhang L (2010) CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules? Neuroscientist 16:470-474
    • (2010) Neuroscientist , vol.16 , pp. 470-474
    • Zhang, L.1
  • 249
    • 42449142983 scopus 로고    scopus 로고
    • A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
    • 1:CAS:528:DC%2BD1cXkslKmurs%3D
    • Zhao GH, Hu ZM, Shen L et al (2008) A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. Chin Med J (Engl) 121:430-434
    • (2008) Chin Med J (Engl) , vol.121 , pp. 430-434
    • Zhao, G.H.1    Hu, Z.M.2    Shen, L.3
  • 250
    • 58149396830 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism
    • 19091982 1:CAS:528:DC%2BD1cXhsFCqtrbL
    • Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, Hedera P (2008) Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. J Neurosci 28:13938-13951
    • (2008) J Neurosci , vol.28 , pp. 13938-13951
    • Zhao, J.1    Matthies, D.S.2    Botzolakis, E.J.3    Macdonald, R.L.4    Blakely, R.D.5    Hedera, P.6
  • 251
    • 0035184654 scopus 로고    scopus 로고
    • Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia
    • 11685207 1:CAS:528:DC%2BD3MXotlWns7Y%3D
    • Zhao X, Alvarado D, Rainier S et al (2001) Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326-331
    • (2001) Nat Genet , vol.29 , pp. 326-331
    • Zhao, X.1    Alvarado, D.2    Rainier, S.3
  • 252
    • 33645834754 scopus 로고    scopus 로고
    • SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
    • 1:CAS:528:DC%2BD28XjtV2gtbY%3D
    • Zhu PP, Soderblom C, Tao-Cheng J-H, Stadler J, Blackstone C (2006) SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Human Mol Gen 15:1343-1353
    • (2006) Human Mol Gen , vol.15 , pp. 1343-1353
    • Zhu, P.P.1    Soderblom, C.2    Tao-Cheng, J.-H.3    Stadler, J.4    Blackstone, C.5
  • 253
    • 84864295128 scopus 로고    scopus 로고
    • A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
    • 22717650 1:CAS:528:DC%2BC38XhtlehtbfN
    • Zivony-Elboum Y, Westbroek W, Kfir N et al (2012) A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet 49:462-472
    • (2012) J Med Genet , vol.49 , pp. 462-472
    • Zivony-Elboum, Y.1    Westbroek, W.2    Kfir, N.3
  • 254
    • 0036088524 scopus 로고    scopus 로고
    • Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
    • 12070243 1:CAS:528:DC%2BD38Xls12ltb4%3D
    • Zortea M, Vettori A, Trevisan CP et al (2002) Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet 39:387-390
    • (2002) J Med Genet , vol.39 , pp. 387-390
    • Zortea, M.1    Vettori, A.2    Trevisan, C.P.3
  • 255
    • 33646406586 scopus 로고    scopus 로고
    • A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
    • 16565863
    • Zuchner S, Kail ME, Nance M et al (2006) A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics 7:127-129
    • (2006) Neurogenetics , vol.7 , pp. 127-129
    • Zuchner, S.1    Kail, M.E.2    Nance, M.3
  • 256
    • 33746554263 scopus 로고    scopus 로고
    • Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
    • 16826527 1:CAS:528:DC%2BD28XnsVOktLk%3D
    • Zuchner S, Wang G, Tran-Viet KN et al (2006) Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 79:365-369
    • (2006) Am J Hum Genet , vol.79 , pp. 365-369
    • Zuchner, S.1    Wang, G.2    Tran-Viet, K.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.