-
1
-
-
56149126723
-
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
-
Brugman F., Scheffer H., Wokke J. HJ., et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology: 2008; 71 19 1500 1505
-
(2008)
Neurology
, vol.71
, Issue.19
, pp. 1500-1505
-
-
Brugman, F.1
Scheffer, H.2
Wokke, J.H.3
-
2
-
-
42049097275
-
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
-
Arnoldi A., Tonelli A., Crippa F., et al. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat: 2008; 29 4 522 531
-
(2008)
Hum Mutat
, vol.29
, Issue.4
, pp. 522-531
-
-
Arnoldi, A.1
Tonelli, A.2
Crippa, F.3
-
3
-
-
0035957066
-
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
-
McDermott C. J., Dayaratne R. K., Tomkins J., et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology: 2001; 56 4 467 471
-
(2001)
Neurology
, vol.56
, Issue.4
, pp. 467-471
-
-
McDermott, C.J.1
Dayaratne, R.K.2
Tomkins, J.3
-
4
-
-
84893774987
-
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia
-
Esteves T., Durr A., Mundwiller E., et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet: 2014; 94 2 268 277
-
(2014)
Am J Hum Genet
, vol.94
, Issue.2
, pp. 268-277
-
-
Esteves, T.1
Durr, A.2
Mundwiller, E.3
-
5
-
-
0004709140
-
Hereditary (familial) spastic paraplegia
-
Schwarz G. A. Hereditary (familial) spastic paraplegia. AMA Arch Neurol Psychiatry: 1952; 68 5 655 662
-
(1952)
AMA Arch Neurol Psychiatry
, vol.68
, Issue.5
, pp. 655-662
-
-
Schwarz, G.A.1
-
6
-
-
0001519052
-
Hereditary (familial) spastic paraplegia; Further clinical and pathologic observations
-
Schwarz G. A., Liu C-N. Hereditary (familial) spastic paraplegia; further clinical and pathologic observations. AMA Arch Neurol Psychiatry: 1956; 75 2 144 162
-
(1956)
AMA Arch Neurol Psychiatry
, vol.75
, Issue.2
, pp. 144-162
-
-
Schwarz, G.A.1
Liu, C.-N.2
-
7
-
-
9444232285
-
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
-
Deluca G. C., Ebers G. C., Esiri M. M. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol: 2004; 30 6 576 584
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, Issue.6
, pp. 576-584
-
-
Deluca, G.C.1
Ebers, G.C.2
Esiri, M.M.3
-
8
-
-
0034641262
-
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation
-
White K. D., Ince P. G., Lusher M., et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology: 2000; 55 1 89 94
-
(2000)
Neurology
, vol.55
, Issue.1
, pp. 89-94
-
-
White, K.D.1
Ince, P.G.2
Lusher, M.3
-
9
-
-
0015945194
-
Strümpell's familial spastic paraplegia: Genetics and neuropathology
-
Behan W. M., Maia M. Strümpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry: 1974; 37 1 8 20
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, Issue.1
, pp. 8-20
-
-
Behan, W.M.1
Maia, M.2
-
10
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding A. E. Hereditary spastic paraplegias. Semin Neurol: 1993; 13 4 333 336
-
(1993)
Semin Neurol
, vol.13
, Issue.4
, pp. 333-336
-
-
Harding, A.E.1
-
11
-
-
0018169181
-
Familial spastic paraplegia-clinical and pathologic studies in a large kindred
-
Sack G. H., Huether C. A., Garg N. Familial spastic paraplegia-clinical and pathologic studies in a large kindred. Johns Hopkins Med J: 1978; 143 4 117 121
-
(1978)
Johns Hopkins Med J
, vol.143
, Issue.4
, pp. 117-121
-
-
Sack, G.H.1
Huether, C.A.2
Garg, N.3
-
12
-
-
0018305451
-
La paraplégie spasmodique familiale de Strümpell-Lorrain (P.S.F.). Une nouvelle observation anatomoclinique [in French]
-
Buge A., Escourolle R., Rancurel G., Gray F., Pertuiset B. F. La paraplégie spasmodique familiale de Strümpell-Lorrain (P.S.F.). Une nouvelle observation anatomoclinique [in French]. Rev Neurol (Paris): 1979; 135 4 329 337
-
(1979)
Rev Neurol (Paris)
, vol.135
, Issue.4
, pp. 329-337
-
-
Buge, A.1
Escourolle, R.2
Rancurel, G.3
Gray, F.4
Pertuiset, B.F.5
-
13
-
-
31744452157
-
Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis
-
Sperfeld A. D., Baumgartner A., Kassubek J. Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis. Eur Neurol: 2005; 54 4 181 185
-
(2005)
Eur Neurol
, vol.54
, Issue.4
, pp. 181-185
-
-
Sperfeld, A.D.1
Baumgartner, A.2
Kassubek, J.3
-
14
-
-
0028037953
-
The phenotype of pure autosomal dominant spastic paraplegia
-
Dürr A., Brice A., Serdaru M., et al. The phenotype of pure autosomal dominant spastic paraplegia. Neurology: 1994; 44 7 1274 1277
-
(1994)
Neurology
, vol.44
, Issue.7
, pp. 1274-1277
-
-
Dürr, A.1
Brice, A.2
Serdaru, M.3
-
15
-
-
0030777273
-
MRI of autosomal dominant pure spastic paraplegia
-
Krabbe K., Nielsen J. E., Fallentin E., Fenger K., Herning M. MRI of autosomal dominant pure spastic paraplegia. Neuroradiology: 1997; 39 10 724 727
-
(1997)
Neuroradiology
, vol.39
, Issue.10
, pp. 724-727
-
-
Krabbe, K.1
Nielsen, J.E.2
Fallentin, E.3
Fenger, K.4
Herning, M.5
-
16
-
-
27644465298
-
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
-
Hedera P., Eldevik O. P., Maly P., Rainier S., Fink J. K. Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology: 2005; 47 10 730 734
-
(2005)
Neuroradiology
, vol.47
, Issue.10
, pp. 730-734
-
-
Hedera, P.1
Eldevik, O.P.2
Maly, P.3
Rainier, S.4
Fink, J.K.5
-
17
-
-
0033551507
-
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
-
Hedera P., DiMauro S., Bonilla E., Wald J., Eldevik O. P., Fink J. K. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology: 1999; 53 1 44 50
-
(1999)
Neurology
, vol.53
, Issue.1
, pp. 44-50
-
-
Hedera, P.1
Dimauro, S.2
Bonilla, E.3
Wald, J.4
Eldevik, O.P.5
Fink, J.K.6
-
18
-
-
84883461543
-
Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms
-
Fink J. K. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol: 2013; 126 3 307 328
-
(2013)
Acta Neuropathol
, vol.126
, Issue.3
, pp. 307-328
-
-
Fink, J.K.1
-
19
-
-
84893041011
-
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
-
Novarino G., Fenstermaker A. G., Zaki M. S., et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science: 2014; 343 6170 506 511
-
(2014)
Science
, vol.343
, Issue.6170
, pp. 506-511
-
-
Novarino, G.1
Fenstermaker, A.G.2
Zaki, M.S.3
-
20
-
-
84862701627
-
Cellular pathways of hereditary spastic paraplegia
-
Blackstone C. Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci: 2012; 35 25 47
-
(2012)
Annu Rev Neurosci
, vol.35
, pp. 25-47
-
-
Blackstone, C.1
-
21
-
-
66949163191
-
-
Rosenberg R. ed. Molecular and Genetic Basis of Neurologic and Psychiatric Disease 5th ed. Philadelphia, PA Lippincott Williams & Wilkins
-
Fink J. K. The hereditary spastic paraplegias. In: Rosenberg R., ed. Molecular and Genetic Basis of Neurologic and Psychiatric Disease. 5th ed. Philadelphia, PA Lippincott Williams & Wilkins: 2014
-
(2014)
The Hereditary Spastic Paraplegias
-
-
Fink, J.K.1
-
22
-
-
0030200658
-
The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease
-
Matsumura R., Takayanagi T., Fujimoto Y., et al. The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease. J Neurol Sci: 1996; 139 1 52 57
-
(1996)
J Neurol Sci
, vol.139
, Issue.1
, pp. 52-57
-
-
Matsumura, R.1
Takayanagi, T.2
Fujimoto, Y.3
-
23
-
-
0028145138
-
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati A., Pericak-Vance M. A., Hung W-Y., et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet: 1994; 3 8 1263 1267
-
(1994)
Hum Mol Genet
, vol.3
, Issue.8
, pp. 1263-1267
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Hung, W.-Y.3
-
24
-
-
10744225170
-
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
-
Muglia M., Criscuolo C., Magariello A., et al. Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. Neurogenetics: 2004; 5 1 49 54
-
(2004)
Neurogenetics
, vol.5
, Issue.1
, pp. 49-54
-
-
Muglia, M.1
Criscuolo, C.2
Magariello, A.3
-
25
-
-
4344633672
-
Clinical features of hereditary spastic paraplegia with thin corpus callosum: Report of 5 Chinese cases
-
Tang B. S., Chen X., Zhao G. H., et al. Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. Chin Med J (Engl): 2004; 117 7 1002 1005
-
(2004)
Chin Med J (Engl)
, vol.117
, Issue.7
, pp. 1002-1005
-
-
Tang, B.S.1
Chen, X.2
Zhao, G.H.3
-
26
-
-
0038119314
-
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
-
Wilkinson P. A., Crosby A. H., Turner C., et al. A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology: 2003; 61 2 235 238
-
(2003)
Neurology
, vol.61
, Issue.2
, pp. 235-238
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
-
27
-
-
40749142468
-
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
-
Tsaousidou M. K., Ouahchi K., Warner T. T., et al. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet: 2008; 82 2 510 515
-
(2008)
Am J Hum Genet
, vol.82
, Issue.2
, pp. 510-515
-
-
Tsaousidou, M.K.1
Ouahchi, K.2
Warner, T.T.3
-
28
-
-
68349147777
-
Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study
-
Criscuolo C., Filla A., Coppola G., et al. Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. J Neurol: 2009; 256 8 1252 1257
-
(2009)
J Neurol
, vol.256
, Issue.8
, pp. 1252-1257
-
-
Criscuolo, C.1
Filla, A.2
Coppola, G.3
-
29
-
-
59149086340
-
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
-
Biancheri R., Ciccolella M., Rossi A., et al. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromuscul Disord: 2009; 19 1 62 65
-
(2009)
Neuromuscul Disord
, vol.19
, Issue.1
, pp. 62-65
-
-
Biancheri, R.1
Ciccolella, M.2
Rossi, A.3
-
30
-
-
0032231934
-
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
-
De Michele G., De Fusco M., Cavalcanti F., et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet: 1998; 63 1 135 139
-
(1998)
Am J Hum Genet
, vol.63
, Issue.1
, pp. 135-139
-
-
De Michele, G.1
De Fusco, M.2
Cavalcanti, F.3
-
31
-
-
0025310594
-
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
-
Garner C. C., Garner A., Huber G., Kozak C., Matus A. 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: 1990; 55 1 146 154
-
(1990)
J Neurochem
, vol.55
, Issue.1
, pp. 146-154
-
-
Garner, C.C.1
Garner, A.2
Huber, G.3
Kozak, C.4
Matus, A.5
-
32
-
-
0345279856
-
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
-
Martínez Murillo F., Kobayashi H., Pegoraro E., et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology: 1999; 53 1 50 56
-
(1999)
Neurology
, vol.53
, Issue.1
, pp. 50-56
-
-
Martínez Murillo, F.1
Kobayashi, H.2
Pegoraro, E.3
-
33
-
-
0347949644
-
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11)
-
Winner B., Uyanik G., Gross C., et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol: 2004; 61 1 117 121
-
(2004)
Arch Neurol
, vol.61
, Issue.1
, pp. 117-121
-
-
Winner, B.1
Uyanik, G.2
Gross, C.3
-
34
-
-
0033868486
-
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28
-
Vazza G., Zortea M., Boaretto F., Micaglio G. F., Sartori V., Mostacciuolo M. L. 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: 2000; 67 2 504 509
-
(2000)
Am J Hum Genet
, vol.67
, Issue.2
, pp. 504-509
-
-
Vazza, G.1
Zortea, M.2
Boaretto, F.3
Micaglio, G.F.4
Sartori, V.5
Mostacciuolo, M.L.6
-
35
-
-
0035826895
-
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q
-
Hughes C. A., Byrne P. C., Webb S., et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology: 2001; 56 9 1230 1233
-
(2001)
Neurology
, vol.56
, Issue.9
, pp. 1230-1233
-
-
Hughes, C.A.1
Byrne, P.C.2
Webb, S.3
-
36
-
-
41549153666
-
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
-
Hanein S., Martin E., Boukhris A., et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet: 2008; 82 4 992 1002
-
(2008)
Am J Hum Genet
, vol.82
, Issue.4
, pp. 992-1002
-
-
Hanein, S.1
Martin, E.2
Boukhris, A.3
-
37
-
-
33646710897
-
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
-
Al-Yahyaee S., Al-Gazali L. I., De Jonghe P., et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology: 2006; 66 8 1230 1234
-
(2006)
Neurology
, vol.66
, Issue.8
, pp. 1230-1234
-
-
Al-Yahyaee, S.1
Al-Gazali, L.I.2
De Jonghe, P.3
-
38
-
-
84855281514
-
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
-
Alazami A. M., Adly N., Al Dhalaan H., Alkuraya F. S. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics: 2011; 12 4 333 336
-
(2011)
Neurogenetics
, vol.12
, Issue.4
, pp. 333-336
-
-
Alazami, A.M.1
Adly, N.2
Al Dhalaan, H.3
Alkuraya, F.S.4
-
39
-
-
84868091740
-
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
-
Al-Saif A., Bohlega S., Al-Mohanna F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol: 2012; 72 4 510 516
-
(2012)
Ann Neurol
, vol.72
, Issue.4
, pp. 510-516
-
-
Al-Saif, A.1
Bohlega, S.2
Al-Mohanna, F.3
-
40
-
-
31544447671
-
Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia
-
Crosby A. H., Patel H., Patton M. A., et al. Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia. Am J Hum Genet: 2002; 71 516
-
(2002)
Am J Hum Genet
, vol.71
, pp. 516
-
-
Crosby, A.H.1
Patel, H.2
Patton, M.A.3
-
41
-
-
0014085911
-
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting
-
Cross H. E., McKusick V. A. The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol: 1967; 16 5 473 485
-
(1967)
Arch Neurol
, vol.16
, Issue.5
, pp. 473-485
-
-
Cross, H.E.1
McKusick, V.A.2
-
42
-
-
0036699065
-
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
-
Patel H., Cross H., Proukakis C., et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet: 2002; 31 4 347 348
-
(2002)
Nat Genet
, vol.31
, Issue.4
, pp. 347-348
-
-
Patel, H.1
Cross, H.2
Proukakis, C.3
-
43
-
-
4644268519
-
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia
-
Proukakis C., Cross H., Patel H., Patton M. A., Valentine A., Crosby A. H. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol: 2004; 251 9 1105 1110
-
(2004)
J Neurol
, vol.251
, Issue.9
, pp. 1105-1110
-
-
Proukakis, C.1
Cross, H.2
Patel, H.3
Patton, M.A.4
Valentine, A.5
Crosby, A.H.6
-
44
-
-
33748043331
-
The hereditary spastic paraplegia protein spartin localises to mitochondria
-
Lu J., Rashid F., Byrne P. C. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem: 2006; 98 6 1908 1919
-
(2006)
J Neurochem
, vol.98
, Issue.6
, pp. 1908-1919
-
-
Lu, J.1
Rashid, F.2
Byrne, P.C.3
-
45
-
-
0242691095
-
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
-
Simpson M. A., Cross H., Proukakis C., et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet: 2003; 73 5 1147 1156
-
(2003)
Am J Hum Genet
, vol.73
, Issue.5
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
-
46
-
-
10744230526
-
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32
-
Blumen S. C., Bevan S., Abu-Mouch S., et al. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol: 2003; 54 6 796 803
-
(2003)
Ann Neurol
, vol.54
, Issue.6
, pp. 796-803
-
-
Blumen, S.C.1
Bevan, S.2
Abu-Mouch, S.3
-
47
-
-
0037168804
-
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
-
Hodgkinson C. A., Bohlega S., Abu-Amero S. N., et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology: 2002; 59 12 1905 1909
-
(2002)
Neurology
, vol.59
, Issue.12
, pp. 1905-1909
-
-
Hodgkinson, C.A.1
Bohlega, S.2
Abu-Amero, S.N.3
-
48
-
-
0036088524
-
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
-
Zortea M., Vettori A., Trevisan C. P., et al. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet: 2002; 39 6 387 390
-
(2002)
J Med Genet
, vol.39
, Issue.6
, pp. 387-390
-
-
Zortea, M.1
Vettori, A.2
Trevisan, C.P.3
-
49
-
-
19944434326
-
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
-
Wilkinson P. A., Simpson M. A., Bastaki L., et al. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet: 2005; 42 1 80 82
-
(2005)
J Med Genet
, vol.42
, Issue.1
, pp. 80-82
-
-
Wilkinson, P.A.1
Simpson, M.A.2
Bastaki, L.3
-
50
-
-
4844227593
-
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
-
Meijer I. A., Cossette P., Roussel J., Benard M., Toupin S., Rouleau G. A. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol: 2004; 56 4 579 582
-
(2004)
Ann Neurol
, vol.56
, Issue.4
, pp. 579-582
-
-
Meijer, I.A.1
Cossette, P.2
Roussel, J.3
Benard, M.4
Toupin, S.5
Rouleau, G.A.6
-
51
-
-
33745521432
-
A new phenotype linked to SPG27 and refinement of the critical region on chromosome
-
Ribai P., Stevanin G., Bouslam N., et al. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol: 2006; 253 6 714 719
-
(2006)
J Neurol
, vol.253
, Issue.6
, pp. 714-719
-
-
Ribai, P.1
Stevanin, G.2
Bouslam, N.3
-
52
-
-
20144389697
-
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
-
Bouslam N., Benomar A., Azzedine H., et al. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol: 2005; 57 4 567 571
-
(2005)
Ann Neurol
, vol.57
, Issue.4
, pp. 567-571
-
-
Bouslam, N.1
Benomar, A.2
Azzedine, H.3
-
53
-
-
84870900912
-
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
-
Tesson C., Nawara M., Salih M. A., et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet: 2012; 91 6 1051 1064
-
(2012)
Am J Hum Genet
, vol.91
, Issue.6
, pp. 1051-1064
-
-
Tesson, C.1
Nawara, M.2
Salih, M.A.3
-
54
-
-
33745107260
-
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
-
Klebe S., Azzedine H., Durr A., et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain: 2006; 129 Pt 6 1456 1462
-
(2006)
Brain
, vol.129
, Issue.PART 6
, pp. 1456-1462
-
-
Klebe, S.1
Azzedine, H.2
Durr, A.3
-
55
-
-
50549092401
-
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
-
Dick K. J., Al-Mjeni R., Baskir W., et al. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology: 2008; 71 4 248 252
-
(2008)
Neurology
, vol.71
, Issue.4
, pp. 248-252
-
-
Dick, K.J.1
Al-Mjeni, R.2
Baskir, W.3
-
56
-
-
77950467334
-
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
-
Dick K. J., Eckhardt M., Paisán-Ruiz C., et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat: 2010; 31 4 E1251 E1260
-
(2010)
Hum Mutat
, vol.31
, Issue.4
, pp. E1251-E1260
-
-
Dick, K.J.1
Eckhardt, M.2
Paisán-Ruiz, C.3
-
57
-
-
78249252333
-
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
-
Kruer M. C., Paisán-Ruiz C., Boddaert N., et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol: 2010; 68 5 611 618
-
(2010)
Ann Neurol
, vol.68
, Issue.5
, pp. 611-618
-
-
Kruer, M.C.1
Paisán-Ruiz, C.2
Boddaert, N.3
-
58
-
-
41149133870
-
Neuropathy target esterase gene mutations cause motor neuron disease
-
Rainier S., Bui M., Mark E., et al. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet: 2008; 82 3 780 785
-
(2008)
Am J Hum Genet
, vol.82
, Issue.3
, pp. 780-785
-
-
Rainier, S.1
Bui, M.2
Mark, E.3
-
59
-
-
77954661330
-
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
-
Meilleur K. G., Traoré M., Sangaré M., et al. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics: 2010; 11 3 313 318
-
(2010)
Neurogenetics
, vol.11
, Issue.3
, pp. 313-318
-
-
Meilleur, K.G.1
Traoré, M.2
Sangaré, M.3
-
60
-
-
60149110304
-
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
-
Orthmann-Murphy J. L., Salsano E., Abrams C. K., et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain: 2009; 132 Pt 2 426 438
-
(2009)
Brain
, vol.132
, Issue.PART 2
, pp. 426-438
-
-
Orthmann-Murphy, J.L.1
Salsano, E.2
Abrams, C.K.3
-
61
-
-
79959360783
-
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
-
Dursun U., Koroglu C., Kocasoy Orhan E., Ugur S. A., Tolun A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics: 2009; 10 4 325 331
-
(2009)
Neurogenetics
, vol.10
, Issue.4
, pp. 325-331
-
-
Dursun, U.1
Koroglu, C.2
Kocasoy Orhan, E.3
Ugur, S.A.4
Tolun, A.5
-
62
-
-
78650058637
-
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
-
Boukhris A., Feki I., Elleuch N., et al. 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: 2010; 11 4 441 448
-
(2010)
Neurogenetics
, vol.11
, Issue.4
, pp. 441-448
-
-
Boukhris, A.1
Feki, I.2
Elleuch, N.3
-
63
-
-
79955703942
-
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum
-
Blumkin L., Lerman-Sagie T., Lev D., Yosovich K., Leshinsky-Silver E. 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: 2011; 305 1-2 67 70
-
(2011)
J Neurol Sci
, vol.305
, Issue.12
, pp. 67-70
-
-
Blumkin, L.1
Lerman-Sagie, T.2
Lev, D.3
Yosovich, K.4
Leshinsky-Silver, E.5
-
64
-
-
77954706670
-
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
-
Słabicki M., Theis M., Krastev D. B., et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol: 2010; 8 6 e1000408
-
(2010)
PLoS Biol
, vol.8
, Issue.6
, pp. e1000408
-
-
Słabicki, M.1
Theis, M.2
Krastev, D.B.3
-
65
-
-
84870886343
-
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis
-
Oz-Levi D., Ben-Zeev B., Ruzzo E. K., et al. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet: 2012; 91 6 1065 1072
-
(2012)
Am J Hum Genet
, vol.91
, Issue.6
, pp. 1065-1072
-
-
Oz-Levi, D.1
Ben-Zeev, B.2
Ruzzo, E.K.3
-
66
-
-
67649587137
-
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
-
Verkerk A. J., Schot R., Dumee B., et al. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet: 2009; 85 1 40 52
-
(2009)
Am J Hum Genet
, vol.85
, Issue.1
, pp. 40-52
-
-
Verkerk, A.J.1
Schot, R.2
Dumee, B.3
-
67
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
-
Najmabadi H., Hu H., Garshasbi M., et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature: 2011; 478 7367 57 63
-
(2011)
Nature
, vol.478
, Issue.7367
, pp. 57-63
-
-
Najmabadi, H.1
Hu, H.2
Garshasbi, M.3
-
68
-
-
79551651120
-
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
-
Moreno-De-Luca A., Helmers S. L., Mao H., et al. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet: 2011; 48 2 141 144
-
(2011)
J Med Genet
, vol.48
, Issue.2
, pp. 141-144
-
-
Moreno-De-Luca, A.1
Helmers, S.L.2
Mao, H.3
-
69
-
-
79958820932
-
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
-
Abou Jamra R., Philippe O., Raas-Rothschild A., et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet: 2011; 88 6 788 795
-
(2011)
Am J Hum Genet
, vol.88
, Issue.6
, pp. 788-795
-
-
Abou Jamra, R.1
Philippe, O.2
Raas-Rothschild, A.3
-
70
-
-
0033548575
-
AP-4, a novel protein complex related to clathrin adaptors
-
Dell'Angelica E. C., Mullins C., Bonifacino J. S. AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem: 1999; 274 11 7278 7285
-
(1999)
J Biol Chem
, vol.274
, Issue.11
, pp. 7278-7285
-
-
Dell'Angelica, E.C.1
Mullins, C.2
Bonifacino, J.S.3
-
71
-
-
0032784330
-
Characterization of a fourth adaptor-related protein complex
-
Hirst J., Bright N. A., Rous B., Robinson M. S. Characterization of a fourth adaptor-related protein complex. Mol Biol Cell: 1999; 10 8 2787 2802
-
(1999)
Mol Biol Cell
, vol.10
, Issue.8
, pp. 2787-2802
-
-
Hirst, J.1
Bright, N.A.2
Rous, B.3
Robinson, M.S.4
-
72
-
-
84864295128
-
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
-
Zivony-Elboum Y., Westbroek W., Kfir N., et al. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet: 2012; 49 7 462 472
-
(2012)
J Med Genet
, vol.49
, Issue.7
, pp. 462-472
-
-
Zivony-Elboum, Y.1
Westbroek, W.2
Kfir, N.3
-
73
-
-
84870879483
-
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
-
FORGE Canada Consortium.
-
Schuurs-Hoeijmakers J. H., Geraghty M. T., Kamsteeg E. J., et al. FORGE Canada Consortium. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet: 2012; 91 6 1073 1081
-
(2012)
Am J Hum Genet
, vol.91
, Issue.6
, pp. 1073-1081
-
-
Schuurs-Hoeijmakers, J.H.1
Geraghty, M.T.2
Kamsteeg, E.J.3
-
74
-
-
84872042551
-
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
-
Japan Spastic Paraplegia Research Consortium (JASPAC).
-
Shimazaki H., Takiyama Y., Ishiura H., et al. Japan Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet: 2012; 49 12 777 784
-
(2012)
J Med Genet
, vol.49
, Issue.12
, pp. 777-784
-
-
Shimazaki, H.1
Takiyama, Y.2
Ishiura, H.3
-
75
-
-
77955082781
-
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
-
Antonicka H., Ostergaard E., Sasarman F., et al. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet: 2010; 87 1 115 122
-
(2010)
Am J Hum Genet
, vol.87
, Issue.1
, pp. 115-122
-
-
Antonicka, H.1
Ostergaard, E.2
Sasarman, F.3
-
76
-
-
84875531545
-
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
-
Beetz C., Johnson A., Schuh A. L., et al. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A: 2013; 110 13 5091 5096
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, Issue.13
, pp. 5091-5096
-
-
Beetz, C.1
Johnson, A.2
Schuh, A.L.3
-
77
-
-
84894078169
-
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
-
Dor T., Cinnamon Y., Raymond L., et al. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet: 2014; 51 2 137 142
-
(2014)
J Med Genet
, vol.51
, Issue.2
, pp. 137-142
-
-
Dor, T.1
Cinnamon, Y.2
Raymond, L.3
-
78
-
-
0031051170
-
Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy
-
Mitchell S., Bundey S. Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. Clin Genet: 1997; 51 1 7 14
-
(1997)
Clin Genet
, vol.51
, Issue.1
, pp. 7-14
-
-
Mitchell, S.1
Bundey, S.2
-
79
-
-
0033072088
-
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25
-
McHale D. P., Mitchell S., Bundey S., et al. A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. Am J Hum Genet: 1999; 64 2 526 532
-
(1999)
Am J Hum Genet
, vol.64
, Issue.2
, pp. 526-532
-
-
McHale, D.P.1
Mitchell, S.2
Bundey, S.3
-
80
-
-
12944281505
-
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
-
Lynex C. N., Carr I. M., Leek J. P., et al. 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 Neurol: 2004; 4 1 20
-
(2004)
BMC Neurol
, vol.4
, Issue.1
, pp. 20
-
-
Lynex, C.N.1
Carr, I.M.2
Leek, J.P.3
-
81
-
-
18244377139
-
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
-
Macedo-Souza L. I., Kok F., Santos S., et al. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol: 2005; 57 5 730 737
-
(2005)
Ann Neurol
, vol.57
, Issue.5
, pp. 730-737
-
-
Macedo-Souza, L.I.1
Kok, F.2
Santos, S.3
-
82
-
-
31344481370
-
Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1
-
Bouhouche A., Benomar A., Bouslam N., Ouazzani R., Chkili T., Yahyaoui M. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1. Eur J Hum Genet: 2006; 14 2 249 252
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.2
, pp. 249-252
-
-
Bouhouche, A.1
Benomar, A.2
Bouslam, N.3
Ouazzani, R.4
Chkili, T.5
Yahyaoui, M.6
-
83
-
-
33646432730
-
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
-
Bouhouche A., Benomar A., Bouslam N., Chkili T., Yahyaoui M. 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: 2006; 43 5 441 443
-
(2006)
J Med Genet
, vol.43
, Issue.5
, pp. 441-443
-
-
Bouhouche, A.1
Benomar, A.2
Bouslam, N.3
Chkili, T.4
Yahyaoui, M.5
-
84
-
-
0028241952
-
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
-
Jouet M., Rosenthal A., Armstrong G., et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet: 1994; 7 3 402 407
-
(1994)
Nat Genet
, vol.7
, Issue.3
, pp. 402-407
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
-
85
-
-
0028236505
-
The rumpshaker mutation in spastic paraplegia
-
Kobayashi H., Hoffman E. P., Marks H. G. The rumpshaker mutation in spastic paraplegia. Nat Genet: 1994; 7 3 351 352
-
(1994)
Nat Genet
, vol.7
, Issue.3
, pp. 351-352
-
-
Kobayashi, H.1
Hoffman, E.P.2
Marks, H.G.3
-
86
-
-
0141893575
-
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: Two faces of myelin loss from mutations in the same gene
-
Hudson L. D. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol: 2003; 18 9 616 624
-
(2003)
J Child Neurol
, vol.18
, Issue.9
, pp. 616-624
-
-
Hudson, L.D.1
-
87
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber P., Munnich A., Bonneau D., et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet: 1994; 6 3 257 262
-
(1994)
Nat Genet
, vol.6
, Issue.3
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
-
88
-
-
0029863607
-
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
-
Cambi F., Tang X. M., Cordray P., Fain P. R., Keppen L. D., Barker D. F. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology: 1996; 46 4 1112 1117
-
(1996)
Neurology
, vol.46
, Issue.4
, 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
-
89
-
-
0030839659
-
Evidence of a third locus in X-linked recessive spastic paraplegia
-
[letter]
-
Steinmüller R., Lantigua-Cruz A., Garcia-Garcia R., Kostrzewa M., Steinberger D., Müller U. Evidence of a third locus in X-linked recessive spastic paraplegia. [letter] Hum Genet: 1997; 100 2 287 289
-
(1997)
Hum Genet
, vol.100
, Issue.2
, pp. 287-289
-
-
Steinmüller, R.1
Lantigua-Cruz, A.2
Garcia-Garcia, R.3
Kostrzewa, M.4
Steinberger, D.5
Müller, U.6
-
90
-
-
0034605365
-
Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2
-
Tamagaki A., Shima M., Tomita R., et al. Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet: 2000; 94 1 5 8
-
(2000)
Am J Med Genet
, vol.94
, Issue.1
, pp. 5-8
-
-
Tamagaki, A.1
Shima, M.2
Tomita, R.3
-
91
-
-
0026330009
-
Alzheimer's research moves to mice
-
Marx J. Alzheimer's research moves to mice. Science: 1991; 253 5017 266 267
-
(1991)
Science
, vol.253
, Issue.5017
, pp. 266-267
-
-
Marx, J.1
-
92
-
-
0000033737
-
Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly
-
Allan W., Herndon C. N., Dudley F. C. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic: 1944; 48 325 334
-
(1944)
Am J Ment Defic
, vol.48
, pp. 325-334
-
-
Allan, W.1
Herndon, C.N.2
Dudley, F.C.3
-
93
-
-
0026647270
-
Allan-Herndon-Dudley syndrome: Clinical and linkage studies on a second family
-
Bialer M. G., Lawrence L., Stevenson R. E., et al. Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet: 1992; 43 1-2 491 497
-
(1992)
Am J Med Genet
, vol.43
, Issue.12
, pp. 491-497
-
-
Bialer, M.G.1
Lawrence, L.2
Stevenson, R.E.3
-
94
-
-
46149105418
-
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
-
Macedo-Souza L. I., Kok F., Santos S., et al. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics: 2008; 9 3 225 226
-
(2008)
Neurogenetics
, vol.9
, Issue.3
, pp. 225-226
-
-
Macedo-Souza, L.I.1
Kok, F.2
Santos, S.3
-
95
-
-
78649984334
-
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
-
Verny C., Guegen N., Desquiret V., et al. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Mitochondrion: 2011; 11 1 70 75
-
(2011)
Mitochondrion
, vol.11
, Issue.1
, pp. 70-75
-
-
Verny, C.1
Guegen, N.2
Desquiret, V.3
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