-
1
-
-
0041522770
-
The hereditary spastic paraplegias: nine genes and counting
-
Fink JK The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 2003, 60:1045-1049.
-
(2003)
Arch Neurol
, vol.60
, pp. 1045-1049
-
-
Fink, J.K.1
-
2
-
-
0002921469
-
Hereditary spastic paraplegia
-
Churchill Livingston, London, D.L. Rimoin, R.E. Pyeritz, J.M. Connor (Eds.)
-
Fink JK Hereditary spastic paraplegia. Emery and Rimoin's Principles and Practice of Medical Genetics 2001, 3124-3145. Churchill Livingston, London. 4th ed. D.L. Rimoin, R.E. Pyeritz, J.M. Connor (Eds.).
-
(2001)
Emery and Rimoin's Principles and Practice of Medical Genetics
, pp. 3124-3145
-
-
Fink, J.K.1
-
3
-
-
0034955320
-
Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis
-
Fink JK Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis. Semin Neurol 2001, 21:199-208.
-
(2001)
Semin Neurol
, vol.21
, pp. 199-208
-
-
Fink, J.K.1
-
4
-
-
0000960536
-
Die primaere Seitenstrangsklerose (spastis-cheSpinalparalyse)
-
Strümpell A Die primaere Seitenstrangsklerose (spastis-cheSpinalparalyse). Dtsch Z Nervenheilk 1904, 27:291-339.
-
(1904)
Dtsch Z Nervenheilk
, vol.27
, pp. 291-339
-
-
Strümpell, A.1
-
5
-
-
0002921469
-
Hereditary spastic paraplegia
-
Harcourt, London, D. Rimoin, R.E. Pyeritz, J. Connor (Eds.)
-
Fink JK Hereditary spastic paraplegia. Emery & Rimoin's Principles and Practice of Medical Genetics 2002, 3124-3145. Harcourt, London. 4th ed. D. Rimoin, R.E. Pyeritz, J. Connor (Eds.).
-
(2002)
Emery & Rimoin's Principles and Practice of Medical Genetics
, pp. 3124-3145
-
-
Fink, J.K.1
-
6
-
-
8944250670
-
Hereditary spastic paraplegia: advances in genetic research
-
Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Neurology 1996, 46:1507-1514.
-
(1996)
Neurology
, vol.46
, pp. 1507-1514
-
-
Fink, J.K.1
Heiman-Patterson, T.2
Bird, T.3
-
7
-
-
0032708407
-
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation
-
Fink JK, Hedera P Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. Semin Neurol 1999, 19:301-310.
-
(1999)
Semin Neurol
, vol.19
, pp. 301-310
-
-
Fink, J.K.1
Hedera, P.2
-
8
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria, Spain: an epidemiological and clinical study
-
Polo AE, Calleja J, Combarros O, et al. Hereditary ataxias and paraplegias in Cantabria, Spain: an epidemiological and clinical study. Brain 1991, 114:855-856.
-
(1991)
Brain
, vol.114
, pp. 855-856
-
-
Polo, A.E.1
Calleja, J.2
Combarros, O.3
-
9
-
-
0026736715
-
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy [Abstract]
-
Filla A, DeMichele G, Marconi R, et al. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy [Abstract]. J Neurol 1992, 239:351-353.
-
(1992)
J Neurol
, vol.239
, pp. 351-353
-
-
Filla, A.1
DeMichele, G.2
Marconi, R.3
-
10
-
-
0032231934
-
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
-
DeMichele G, DeFusco M, Cavalcanti F, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998, 63:135-139.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 135-139
-
-
DeMichele, G.1
DeFusco, M.2
Cavalcanti, F.3
-
11
-
-
18644365196
-
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
-
Reid E, Kloos M, Ashley-Koch A, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 2002, 71:1189-1194.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1189-1194
-
-
Reid, E.1
Kloos, M.2
Ashley-Koch, A.3
-
12
-
-
10844278272
-
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
-
Nielsen JE, Johnsen B, Koefoed P, et al. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol 2004, 11:817-824.
-
(2004)
Eur J Neurol
, vol.11
, pp. 817-824
-
-
Nielsen, J.E.1
Johnsen, B.2
Koefoed, P.3
-
13
-
-
0031960716
-
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p
-
Heinzlef O, Paternotte C, Mahieux F, et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 1998, 35:89-93.
-
(1998)
J Med Genet
, vol.35
, pp. 89-93
-
-
Heinzlef, O.1
Paternotte, C.2
Mahieux, F.3
-
14
-
-
1042299828
-
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
-
McMonagle P, Byrne P, Hutchinson M Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 2004, 62:407-410.
-
(2004)
Neurology
, vol.62
, pp. 407-410
-
-
McMonagle, P.1
Byrne, P.2
Hutchinson, M.3
-
15
-
-
0031976287
-
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
-
Webb S, Coleman D, Byrne P, et al. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 1998, 121:601-609.
-
(1998)
Brain
, vol.121
, pp. 601-609
-
-
Webb, S.1
Coleman, D.2
Byrne, P.3
-
16
-
-
0031845205
-
Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
-
Byrne PC, Webb S, McSweeney F, et al. 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 1998, 6:275-282.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 275-282
-
-
Byrne, P.C.1
Webb, S.2
McSweeney, F.3
-
17
-
-
0032880071
-
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia
-
Reid E, Grayson C, Rubinsztein DC, et al. Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia. J Med Genet 1999, 36:797-798.
-
(1999)
J Med Genet
, vol.36
, pp. 797-798
-
-
Reid, E.1
Grayson, C.2
Rubinsztein, D.C.3
-
18
-
-
9444232285
-
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
-
Deluca GC, Ebers GC, Esiri MM The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol 2004, 30:576-584.
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 576-584
-
-
Deluca, G.C.1
Ebers, G.C.2
Esiri, M.M.3
-
19
-
-
0041522770
-
Hereditary spastic paraplegia: nine genes and counting
-
Fink JK Hereditary spastic paraplegia: nine genes and counting. Arch Neurol 2003, 60:1045-1049.
-
(2003)
Arch Neurol
, vol.60
, pp. 1045-1049
-
-
Fink, J.K.1
-
20
-
-
0001519052
-
Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations
-
Schwarz GA, Liu C-N Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations. AMA Arch Neurol Psychiatry 1956, 75:144-162.
-
(1956)
AMA Arch Neurol Psychiatry
, vol.75
, pp. 144-162
-
-
Schwarz, G.A.1
Liu, C.-N.2
-
21
-
-
0015945194
-
Strümpell's familial spastic paraplegia: genetics and neuropathology
-
Behan W, Maia M Strümpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 1974, 37:8-20.
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, pp. 8-20
-
-
Behan, W.1
Maia, M.2
-
22
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding AE Hereditary spastic paraplegias. Semin Neurol 1993, 13:333-336.
-
(1993)
Semin Neurol
, vol.13
, pp. 333-336
-
-
Harding, A.E.1
-
23
-
-
0018169181
-
Familial spastic paraplegia: clinical and pathologic studies in a large kindred
-
Sack GH, Huether CA, Garg N Familial spastic paraplegia: clinical and pathologic studies in a large kindred. Johns Hopkins Med J 1978, 143:117-121.
-
(1978)
Johns Hopkins Med J
, vol.143
, pp. 117-121
-
-
Sack, G.H.1
Huether, C.A.2
Garg, N.3
-
24
-
-
0035369084
-
Charcot-Marie-Tooth disease type2A caused by mutation in a microtubule motor KIF1B?
-
Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type2A caused by mutation in a microtubule motor KIF1B?. Cell 2001, 105:587-597.
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
-
25
-
-
6944225591
-
Neuropathology: many paths lead to hereditary spastic paraplegia
-
Gould RM, Brady ST Neuropathology: many paths lead to hereditary spastic paraplegia. Curr Biol 2004, 14:P903-P904.
-
(2004)
Curr Biol
, vol.14
, pp. P903-P904
-
-
Gould, R.M.1
Brady, S.T.2
-
26
-
-
2342561865
-
Motor neurons rely on motor proteins
-
Holzbaur EL Motor neurons rely on motor proteins. Trends Cell Biol 2004, 14:233-240.
-
(2004)
Trends Cell Biol
, vol.14
, pp. 233-240
-
-
Holzbaur, E.L.1
-
27
-
-
3142516228
-
Microtubule-dependent transport in neurons; steps towards and understanding of regulation, function and dysfunction
-
Guzik BW, Goldstein LS Microtubule-dependent transport in neurons; steps towards and understanding of regulation, function and dysfunction. Curr Opin Cell Biol 2004, 16:443-450.
-
(2004)
Curr Opin Cell Biol
, vol.16
, pp. 443-450
-
-
Guzik, B.W.1
Goldstein, L.S.2
-
28
-
-
13944280702
-
Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function
-
Sherwood NT, Sun Q, Xue M, et al. Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function. PLoS Biol 2004, 2:e429.
-
(2004)
PLoS Biol
, vol.2
-
-
Sherwood, N.T.1
Sun, Q.2
Xue, M.3
-
29
-
-
17144424690
-
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules
-
Roll-Mecak A, Vale RD The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. Curr Biol 2005, 15:650-655.
-
(2005)
Curr Biol
, vol.15
, pp. 650-655
-
-
Roll-Mecak, A.1
Vale, R.D.2
-
30
-
-
12344250580
-
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
-
Reid E, Connell J, Edwards TL, et al. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum Mol Genet 2005, 14:19-38.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 19-38
-
-
Reid, E.1
Connell, J.2
Edwards, T.L.3
-
31
-
-
0344664376
-
Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation
-
McDermott CJ, Grierson AJ, Wood JD, et al. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol 2003, 54:748-759.
-
(2003)
Ann Neurol
, vol.54
, pp. 748-759
-
-
McDermott, C.J.1
Grierson, A.J.2
Wood, J.D.3
-
32
-
-
0242693281
-
The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
-
Wharton SB, McDermott CJ, Grierson AJ, et al. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol 2003, 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
-
33
-
-
1842423548
-
Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle
-
Molon A, DiGiovanni S, Chen YW, et al. Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle. Neurology 2004, 62:97-104.
-
(2004)
Neurology
, vol.62
, pp. 97-104
-
-
Molon, A.1
DiGiovanni, S.2
Chen, Y.W.3
-
34
-
-
3142647116
-
The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
-
Trotta N, Orso G, Rossetto MG, et al. The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Curr Biol 2004, 14:1135-1147.
-
(2004)
Curr Biol
, vol.14
, pp. 1135-1147
-
-
Trotta, N.1
Orso, G.2
Rossetto, M.G.3
-
35
-
-
5744240094
-
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody, and the distal axon
-
Errico A, Claudiani P, D'Addio M, et al. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody, and the distal axon. Hum Mol Genet 2004, 13:2121-2132.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2121-2132
-
-
Errico, A.1
Claudiani, P.2
D'Addio, M.3
-
36
-
-
13944283245
-
Linking axonal degeneration to microtubule remodeling by spastinmediated microtubule severing
-
Evans KJ, Gomes ER, Reisenweber SM, et al. Linking axonal degeneration to microtubule remodeling by spastinmediated microtubule severing. J Cell Biol 2005, 168:599-606.
-
(2005)
J Cell Biol
, vol.168
, pp. 599-606
-
-
Evans, K.J.1
Gomes, E.R.2
Reisenweber, S.M.3
-
37
-
-
0037313655
-
Screening of patients with hereditary spatic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
-
Proukakis C, Auer-Grumbach M, Wagner K, et al. Screening of patients with hereditary spatic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat 2003, 21:170.
-
(2003)
Hum Mutat
, vol.21
, pp. 170
-
-
Proukakis, C.1
Auer-Grumbach, M.2
Wagner, K.3
-
38
-
-
0035184654
-
Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia
-
Zhao X, Alvarado D, Rainier S, et al. Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001, 29:326-331.
-
(2001)
Nat Genet
, vol.29
, pp. 326-331
-
-
Zhao, X.1
Alvarado, D.2
Rainier, S.3
-
39
-
-
0010921871
-
Atlastin gene analysis in early onset hereditary spastic paraplegia [Abstract]
-
Alvarado DM, Ming L, Hedera P, et al. Atlastin gene analysis in early onset hereditary spastic paraplegia [Abstract]. Am J Hum Genet 2001, 69:597.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 597
-
-
Alvarado, D.M.1
Ming, L.2
Hedera, P.3
-
40
-
-
10044286171
-
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
-
Durr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004, 61:1867-1872.
-
(2004)
Arch Neurol
, vol.61
, pp. 1867-1872
-
-
Durr, A.1
Camuzat, A.2
Colin, E.3
-
41
-
-
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, 31:347-348.
-
(2002)
Nat Genet
, vol.31
, pp. 347-348
-
-
Patel, H.1
Cross, H.2
Proukakis, C.3
-
42
-
-
0742281520
-
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin
-
Zhu PP, Patterson A, Lavoie B, et al. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem 2003, 278:49063-49071.
-
(2003)
J Biol Chem
, vol.278
, pp. 49063-49071
-
-
Zhu, P.P.1
Patterson, A.2
Lavoie, B.3
-
43
-
-
31544447671
-
Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia [Abstract]
-
Crosby AH, Patel H, Patton MA, et al. Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia [Abstract]. 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
-
44
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
-
Hansen JJ, Durr A, Cournu-Rebeix I, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002, 70:1328-1332.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1328-1332
-
-
Hansen, J.J.1
Durr, A.2
Cournu-Rebeix, I.3
-
45
-
-
0344736798
-
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
-
Atorino L, Silvestri L, Koppen M, et al. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 2003, 163:777-787.
-
(2003)
J Cell Biol
, vol.163
, pp. 777-787
-
-
Atorino, L.1
Silvestri, L.2
Koppen, M.3
-
46
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F, Quattrini A, Pirozzi M, et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 2004, 113:231-242.
-
(2004)
J Clin Invest
, vol.113
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirozzi, M.3
-
47
-
-
0038119314
-
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
-
Wilkinson PA, Crosby AH, Turner C, et al. A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology 2003, 61:235-238.
-
(2003)
Neurology
, vol.61
, pp. 235-238
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
-
48
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G, Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998, 93:973-983.
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
Fusco, M.2
Ciarmatori, S.3
-
49
-
-
0033556316
-
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/ SPG2)
-
Hodes ME, Zimmerman AW, Aydanian A, et al. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/ SPG2). Am J Med Genet 1999, 82:132-139.
-
(1999)
Am J Med Genet
, vol.82
, pp. 132-139
-
-
Hodes, M.E.1
Zimmerman, A.W.2
Aydanian, A.3
-
50
-
-
0022409105
-
Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders
-
Willard HF, Riordan JR Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 1985, 230:940-942.
-
(1985)
Science
, vol.230
, pp. 940-942
-
-
Willard, H.F.1
Riordan, J.R.2
-
51
-
-
0141893575
-
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene
-
Hudson LD Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol 2003, 18:616-624.
-
(2003)
J Child Neurol
, vol.18
, pp. 616-624
-
-
Hudson, L.D.1
-
52
-
-
0036189424
-
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
-
Garbern JY, Yool DA, Moore GJ, et al. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002, 125:551-561.
-
(2002)
Brain
, vol.125
, pp. 551-561
-
-
Garbern, J.Y.1
Yool, D.A.2
Moore, G.J.3
-
53
-
-
0029957549
-
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
-
Bateman A, Jouet M, MacFarlane J, et al. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 1996, 15:6050-6059.
-
(1996)
EMBO J
, vol.15
, pp. 6050-6059
-
-
Bateman, A.1
Jouet, M.2
MacFarlane, J.3
-
54
-
-
0019979002
-
Familial spastic paraplegia: a clinical and electrodiagnostic evaluation
-
Owens LA, Peterson CR Familial spastic paraplegia: a clinical and electrodiagnostic evaluation. Arch Phys Med Rehabil 1982, 63:357-361.
-
(1982)
Arch Phys Med Rehabil
, vol.63
, pp. 357-361
-
-
Owens, L.A.1
Peterson, C.R.2
-
56
-
-
26444610811
-
Clinical and genetic study of a large SPG4 Italian family
-
Orlacchio A, Kawarai T, Gaudiello F, et al. Clinical and genetic study of a large SPG4 Italian family. Mov Disord 2005, 20:1055-1059.
-
(2005)
Mov Disord
, vol.20
, pp. 1055-1059
-
-
Orlacchio, A.1
Kawarai, T.2
Gaudiello, F.3
-
57
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding AE Classification of the hereditary ataxias and paraplegias. Lancet 1983, 1:1151-1155.
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
58
-
-
0034955320
-
Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis
-
Fink JK Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis. Semin Neurol 2001, 21:199-208.
-
(2001)
Semin Neurol
, vol.21
, pp. 199-208
-
-
Fink, J.K.1
-
59
-
-
2542497085
-
Gait analysis of sporadic and hereditary spastic paraplegia
-
Klebe S, Stolze H, Kopper F, et al. Gait analysis of sporadic and hereditary spastic paraplegia. J Neurol 2004, 251:571-578.
-
(2004)
J Neurol
, vol.251
, pp. 571-578
-
-
Klebe, S.1
Stolze, H.2
Kopper, F.3
-
60
-
-
0042205087
-
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene
-
Bonsch D, Schwindt A, Navratil P, et al. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene. J Neurol Neurosurg Psychiatry 2003, 74:1109-1112.
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 1109-1112
-
-
Bonsch, D.1
Schwindt, A.2
Navratil, P.3
-
61
-
-
5444231843
-
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
-
Svenson IK, Kloos M, Gaskell PC, et al. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics 2004, 5:157-164.
-
(2004)
Neurogenetics
, vol.5
, pp. 157-164
-
-
Svenson, I.K.1
Kloos, M.2
Gaskell, P.C.3
-
62
-
-
0141609165
-
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class [Abstract]
-
Yip AG, Durr A, Marchuk DA, et al. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class [Abstract]. J Med Genet 2003, 40:e106.
-
(2003)
J Med Genet
, vol.40
-
-
Yip, A.G.1
Durr, A.2
Marchuk, D.A.3
-
63
-
-
0030807772
-
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
-
Nielsen JE, Koefoed P, Abell K, et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 1997, 6:1811-1816.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1811-1816
-
-
Nielsen, J.E.1
Koefoed, P.2
Abell, K.3
-
64
-
-
85137256498
-
A kinesin heavy chain (K1F5A) mutation in Hereditary Spastic Paraplegia (SPG10) [Abstract]
-
Pericak-Vance MA, Kloos MT, Reid E, et al. A kinesin heavy chain (K1F5A) mutation in Hereditary Spastic Paraplegia (SPG10) [Abstract]. Am J Hum Genet 2002, 71:165.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 165
-
-
Pericak-Vance, M.A.1
Kloos, M.T.2
Reid, E.3
-
65
-
-
0041522717
-
Subtle cognitive impairment but no dementia in patients with spastin mutations [Abstract]
-
Tallaksen CME, Gomez EG, Verpillat P, et al. Subtle cognitive impairment but no dementia in patients with spastin mutations [Abstract]. Arch Neurol 2003, 60:1113-1118.
-
(2003)
Arch Neurol
, vol.60
, pp. 1113-1118
-
-
Tallaksen, C.M.E.1
Gomez, E.G.2
Verpillat, P.3
-
66
-
-
33746054137
-
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
-
Stevanin G, Montagna G, Azzedine H, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 2006, 3:149-156.
-
(2006)
Neurogenetics
, vol.3
, pp. 149-156
-
-
Stevanin, G.1
Montagna, G.2
Azzedine, H.3
-
67
-
-
27644465298
-
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
-
Hedera P, Eldevik OP, Maly P, et al. Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology 2005, 47:730-734.
-
(2005)
Neuroradiology
, vol.47
, pp. 730-734
-
-
Hedera, P.1
Eldevik, O.P.2
Maly, P.3
-
69
-
-
23944446679
-
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
-
Scarano V, Mancini P, Criscuolo C, et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 2005, 252:901-903.
-
(2005)
J Neurol
, vol.252
, pp. 901-903
-
-
Scarano, V.1
Mancini, P.2
Criscuolo, C.3
-
70
-
-
0025353508
-
A qualitative study of sensory functions in hereditary spastic paraplegia
-
Schady W, Scheard A A qualitative study of sensory functions in hereditary spastic paraplegia. Brain 1990, 113:709-720.
-
(1990)
Brain
, vol.113
, pp. 709-720
-
-
Schady, W.1
Scheard, A.2
-
71
-
-
0028236149
-
Sensory neuropathy in hereditary spastic paraplegia
-
Schady W, Smith DI Sensory neuropathy in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1994, 57:693-698.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 693-698
-
-
Schady, W.1
Smith, D.I.2
-
72
-
-
0026335360
-
Motor and somatosensory evoked potentials in hereditary spastic paraplegia
-
Pelosi L, Lanzillo B, Perretti A Motor and somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1991, 54:1099-1102.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 1099-1102
-
-
Pelosi, L.1
Lanzillo, B.2
Perretti, A.3
-
73
-
-
0019815380
-
Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia
-
Pedersen L, Trojaborg W Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. Electroen-cephalogr Clin Neurophys 1981, 52:283-297.
-
(1981)
Electroen-cephalogr Clin Neurophys
, vol.52
, pp. 283-297
-
-
Pedersen, L.1
Trojaborg, W.2
-
74
-
-
0023165002
-
Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy
-
Uncini A, Treviso M, Basciani M, et al. Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy. Electroencephalogr Clin Neurophys 1987, 66:132-136.
-
(1987)
Electroencephalogr Clin Neurophys
, vol.66
, pp. 132-136
-
-
Uncini, A.1
Treviso, M.2
Basciani, M.3
-
75
-
-
0000756332
-
Evoked potentials in familial spastic paraplegia: description of three brothers and review of the literature
-
Battistella PA, Suppiej A, Mandara V Evoked potentials in familial spastic paraplegia: description of three brothers and review of the literature. Giorn Neuropsi Evol 1997, 17:201-212.
-
(1997)
Giorn Neuropsi Evol
, vol.17
, pp. 201-212
-
-
Battistella, P.A.1
Suppiej, A.2
Mandara, V.3
-
76
-
-
0038220919
-
Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia
-
Schulte T, Miterski B, Bornke C, et al. Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia. Neurology 2003, 60:1529-1532.
-
(2003)
Neurology
, vol.60
, pp. 1529-1532
-
-
Schulte, T.1
Miterski, B.2
Bornke, C.3
-
77
-
-
0037963056
-
Transcranial magnetic stimulation study in hereditary spastic paraparesis
-
Nardone R, Tezzon F Transcranial magnetic stimulation study in hereditary spastic paraparesis. Eur Neurol 2003, 49:234-237.
-
(2003)
Eur Neurol
, vol.49
, pp. 234-237
-
-
Nardone, R.1
Tezzon, F.2
-
78
-
-
0025371043
-
Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study
-
Claus D, Waddy HM, Harding AE Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol 1990, 28:43-49.
-
(1990)
Ann Neurol
, vol.28
, pp. 43-49
-
-
Claus, D.1
Waddy, H.M.2
Harding, A.E.3
-
79
-
-
0010875006
-
Central motor conduction in hereditary spastic paraparesis (Strümpell's disease) and tropical spastic paraparesis
-
Claus D, Jaspert A Central motor conduction in hereditary spastic paraparesis (Strümpell's disease) and tropical spastic paraparesis. Neurol Croatica 1995, 44:23-31.
-
(1995)
Neurol Croatica
, vol.44
, pp. 23-31
-
-
Claus, D.1
Jaspert, A.2
-
80
-
-
0033551507
-
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
-
Hedera P, DiMauro S, Bonilla E, et al. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology 1999, 53:44-50.
-
(1999)
Neurology
, vol.53
, pp. 44-50
-
-
Hedera, P.1
DiMauro, S.2
Bonilla, E.3
-
81
-
-
0032721512
-
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999, 23:296-303.
-
(1999)
Nat Genet
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
-
82
-
-
0344837697
-
Investigation of mitochondrial function in hereditary spastic paraparesis
-
McDermott CJ, Taylor RW, Hayes C, et al. Investigation of mitochondrial function in hereditary spastic paraparesis. Genet Nerv Syst Dis 2003, 14:485-488.
-
(2003)
Genet Nerv Syst Dis
, vol.14
, pp. 485-488
-
-
McDermott, C.J.1
Taylor, R.W.2
Hayes, C.3
-
83
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan J, Fontaine B, Bruyn RPM, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994, 3:1569-1573.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1569-1573
-
-
Hazan, J.1
Fontaine, B.2
Bruyn, R.P.M.3
-
84
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
-
Rainier S, Chai J-H, Tokarz D, et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 2003, 73:967-971.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.-H.2
Tokarz, D.3
-
85
-
-
2642582687
-
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
-
Nielsen JE, Koefoed P, Kjaergaard S, et al. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. Prenat Diagn 2004, 24:363-366.
-
(2004)
Prenat Diagn
, vol.24
, pp. 363-366
-
-
Nielsen, J.E.1
Koefoed, P.2
Kjaergaard, S.3
-
86
-
-
0035056728
-
Prenatal diagnosis of hereditary spastic paraplegia
-
Hedera P, Williamson J, Alvarado D, et al. Prenatal diagnosis of hereditary spastic paraplegia. Prenat Diagn 2001, 21:202-206.
-
(2001)
Prenat Diagn
, vol.21
, pp. 202-206
-
-
Hedera, P.1
Williamson, J.2
Alvarado, D.3
-
87
-
-
15244357245
-
Cerebral folate deficiency: life-changing supplementation with folinic acid
-
Hansen FJ, Blau N Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab 2005, 84:371-373.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 371-373
-
-
Hansen, F.J.1
Blau, N.2
-
88
-
-
1942485920
-
X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis
-
Shaw-Smith CJ, Lewis SJ, Reid E X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis. J Neurol Neurosurg Psychiatry 2004, 75:686-688.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 686-688
-
-
Shaw-Smith, C.J.1
Lewis, S.J.2
Reid, E.3
-
89
-
-
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, 139:52-57.
-
(1996)
J Neurol Sci
, vol.139
, pp. 52-57
-
-
Matsumura, R.1
Takayanagi, T.2
Fujimoto, Y.3
-
90
-
-
0001914027
-
Dopa-responsive dystonia: clinical, pathological, and genetic distinction from juvenile parkinsonism
-
Karger, Basel, M. Segawa, Y. Nomura (Eds.)
-
Nygaard TG Dopa-responsive dystonia: clinical, pathological, and genetic distinction from juvenile parkinsonism. Age-Related Dopamine-Dependent Disorders: Monographs in Neural Sciences 1995, vol 14:109-119. Karger, Basel. M. Segawa, Y. Nomura (Eds.).
-
(1995)
Age-Related Dopamine-Dependent Disorders: Monographs in Neural Sciences
, vol.14
, pp. 109-119
-
-
Nygaard, T.G.1
-
91
-
-
0024044777
-
Treatable dystonia presenting as spastic cerebral palsy
-
Fink JK, Filling-Katz M, Barton NW, et al. Treatable dystonia presenting as spastic cerebral palsy. Pediatrics 1988, 82:138.
-
(1988)
Pediatrics
, vol.82
, pp. 138
-
-
Fink, J.K.1
Filling-Katz, M.2
Barton, N.W.3
-
93
-
-
0018383373
-
Hereditary sensory neuropathy with spastic paraplegia
-
Cavanagh NPC, Eames RA, Galvin RJ, et al. Hereditary sensory neuropathy with spastic paraplegia. Brain 1979, 102:79-84.
-
(1979)
Brain
, vol.102
, pp. 79-84
-
-
Cavanagh, N.P.C.1
Eames, R.A.2
Galvin, R.J.3
-
94
-
-
0019447559
-
Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome
-
Stewart RM, Tunell G, Ehle A Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome. Neurology 1981, 31:754-757.
-
(1981)
Neurology
, vol.31
, pp. 754-757
-
-
Stewart, R.M.1
Tunell, G.2
Ehle, A.3
-
95
-
-
0033868486
-
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28
-
Vazza GZM, Boaretto F, Micaglio GF, et al. 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, 67:504-509.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 504-509
-
-
Vazza, G.Z.M.1
Boaretto, F.2
Micaglio, G.F.3
-
96
-
-
0034017473
-
Intrathecal baclofen for intractable cerebral spasticity: a prospective placebo-controlled, double-blind study
-
Van Schaeybroeck P, Nuttin B, Lagae L, et al. Intrathecal baclofen for intractable cerebral spasticity: a prospective placebo-controlled, double-blind study. Neurosurgery 2000, 46:603-612.
-
(2000)
Neurosurgery
, vol.46
, pp. 603-612
-
-
Van Schaeybroeck, P.1
Nuttin, B.2
Lagae, L.3
-
97
-
-
33644895434
-
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
-
Rainier S, Sher C, Reish O, et al. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol 2006, 63:445-447.
-
(2006)
Arch Neurol
, vol.63
, pp. 445-447
-
-
Rainier, S.1
Sher, C.2
Reish, O.3
-
98
-
-
85137198665
-
Two novel mutations in the spastin gene in a family with hereditary spastic paraparesis and in one patient with apparently sporadic spastic paraplegia [Abstract]
-
Melbourne, Australia
-
Alber B, Rothmund G, Ludolph AC, et al: Two novel mutations in the spastin gene in a family with hereditary spastic paraparesis and in one patient with apparently sporadic spastic paraplegia [Abstract]. Presented at the 13th Annual International Symposium on ALS/MND, Melbourne, Australia, 2002.
-
(2002)
Presented at the 13th Annual International Symposium on ALS/MND
-
-
Alber, B.1
Rothmund, G.2
Ludolph, A.C.3
-
99
-
-
28544451984
-
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations
-
Patrono C, Scarano V, Cricchi F, et al. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat 2005, 25:506.
-
(2005)
Hum Mutat
, vol.25
, pp. 506
-
-
Patrono, C.1
Scarano, V.2
Cricchi, F.3
-
100
-
-
18444378149
-
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
-
Sauter S, Miterski B, Klimpe S, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 2002, 20:127-132.
-
(2002)
Hum Mutat
, vol.20
, pp. 127-132
-
-
Sauter, S.1
Miterski, B.2
Klimpe, S.3
-
101
-
-
0034163576
-
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
-
Fonknecten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000, 9:637-644.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 637-644
-
-
Fonknecten, N.1
Mavel, D.2
Byrne, P.3
-
102
-
-
2942564556
-
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene
-
D'Amico A, Tessa A, Sabino A, et al. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 2004, 62:2138-2139.
-
(2004)
Neurology
, vol.62
, pp. 2138-2139
-
-
D'Amico, A.1
Tessa, A.2
Sabino, A.3
-
103
-
-
0033362081
-
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity
-
Reid E, Dearlove AM, Rhodes M, et al. A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity. Am J Hum Genet 1999, 65:757-763.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 757-763
-
-
Reid, E.1
Dearlove, A.M.2
Rhodes, M.3
-
104
-
-
0042597967
-
Hereditary spastic paraplegia
-
Butterworth-Heinemann, London, H. Kaminski (Ed.)
-
Fink JK Hereditary spastic paraplegia. Neuromuscular Disorders in Clinical Practice 2002, 1290-1297. Butterworth-Heinemann, London. H. Kaminski (Ed.).
-
(2002)
Neuromuscular Disorders in Clinical Practice
, pp. 1290-1297
-
-
Fink, J.K.1
-
105
-
-
31544475865
-
Hereditary spastic paraplegia
-
Taylor & Francis, London, J. Noseworthy, L.P. Rowland (Eds.)
-
Fink JK Hereditary spastic paraplegia. Neurological Therapeutics: Principles and Practice 2003, 2705-2713. Taylor & Francis, London. J. Noseworthy, L.P. Rowland (Eds.).
-
(2003)
Neurological Therapeutics: Principles and Practice
, pp. 2705-2713
-
-
Fink, J.K.1
-
106
-
-
0036699080
-
Hereditary spastic paraplegia
-
WB Saunders, Philadelphia, D.R. Lynch, J.M. Farmer (Eds.)
-
Fink JK Hereditary spastic paraplegia. Neurogenetics 2002, 711-726. WB Saunders, Philadelphia. D.R. Lynch, J.M. Farmer (Eds.).
-
(2002)
Neurogenetics
, pp. 711-726
-
-
Fink, J.K.1
-
107
-
-
84908369275
-
Hereditary spastic paraplegia
-
Cambridge University Press, Cambridge, UK, F. Beal, A. Lang, A. Ludolph (Eds.)
-
Fink JK Hereditary spastic paraplegia. Neurodegenerative Disease: Neurobiology, Pathogenesis, and Treatment 2005, 794-802. Cambridge University Press, Cambridge, UK. F. Beal, A. Lang, A. Ludolph (Eds.).
-
(2005)
Neurodegenerative Disease: Neurobiology, Pathogenesis, and Treatment
, pp. 794-802
-
-
Fink, J.K.1
-
108
-
-
0027363223
-
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan J, Lamy C, Melki J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993, 5:163-167.
-
(1993)
Nat Genet
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
-
109
-
-
1542783703
-
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
-
Sauter SM, Engel W, Neumann LM, et al. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 2004, 23:98.
-
(2004)
Hum Mutat
, vol.23
, pp. 98
-
-
Sauter, S.M.1
Engel, W.2
Neumann, L.M.3
-
110
-
-
17444432925
-
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
-
Paternotte C, Rudnicki D, Fizames C, et al. Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res 1998, 8:1216-1227.
-
(1998)
Genome Res
, vol.8
, pp. 1216-1227
-
-
Paternotte, C.1
Rudnicki, D.2
Fizames, C.3
-
111
-
-
0043098757
-
Mutations in SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized to the nucleus [Abstract]
-
Charvin D, Fonknechten N, Cifuentes-Diaz C, et al. Mutations in SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized to the nucleus [Abstract]. Am J Hum Genet 2002, 71:516.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 516
-
-
Charvin, D.1
Fonknechten, N.2
Cifuentes-Diaz, C.3
-
112
-
-
0028067709
-
Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers
-
Hentati A, Pericak-Vance MA, Lennon F, et al. Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 1994, 3:1867-1871.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1867-1871
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Lennon, F.3
-
113
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
-
Fink JK, Wu C-TB, Jones SM, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995, 56:188-192.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 188-192
-
-
Fink, J.K.1
Wu, C.-T.B.2
Jones, S.M.3
-
114
-
-
0028817191
-
Autosomal dominant hereditary spastic paraparesis, type I: clinical and genetic analysis of a large North American family
-
Fink JK, Sharp G, Lange B, et al. Autosomal dominant hereditary spastic paraparesis, type I: clinical and genetic analysis of a large North American family. Neurology 1995, 45:325-331.
-
(1995)
Neurology
, vol.45
, pp. 325-331
-
-
Fink, J.K.1
Sharp, G.2
Lange, B.3
-
115
-
-
13444309076
-
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
-
Chen S, Song C, Guo H, et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat 2005, 25:135-141.
-
(2005)
Hum Mutat
, vol.25
, pp. 135-141
-
-
Chen, S.1
Song, C.2
Guo, H.3
-
116
-
-
0033073735
-
Novel locus for autosomal dominant hereditary spastic paraplegia on chromosome 8q
-
Hedera P, Rainier S, Alvarado D, et al. Novel locus for autosomal dominant hereditary spastic paraplegia on chromosome 8q. Am J Hum Genet 1999, 64:563-569.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 563-569
-
-
Hedera, P.1
Rainier, S.2
Alvarado, D.3
-
117
-
-
0033912569
-
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13
-
Reid E, Dearlove AM, Osborn M, et al. A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000, 66:728-732.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 728-732
-
-
Reid, E.1
Dearlove, A.M.2
Osborn, M.3
-
118
-
-
0033069503
-
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
-
Seri M, Cusano R, Forabosco P, et al. 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 1999, 64:586-593.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 586-593
-
-
Seri, M.1
Cusano, R.2
Forabosco, P.3
-
119
-
-
4644258352
-
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
-
Fichera M, Lo Giudice M, Falco M, et al. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 2004, 63:1108-1110.
-
(2004)
Neurology
, vol.63
, pp. 1108-1110
-
-
Fichera, M.1
Lo Giudice, M.2
Falco, M.3
-
120
-
-
0033912567
-
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
-
Fontaine B, Davoine C-S, Durr A, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000, 66:702-707.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 702-707
-
-
Fontaine, B.1
Davoine, C.-S.2
Durr, A.3
-
121
-
-
0034969438
-
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
-
Patel H, Hart PE, Warner TT, et al. 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 2001, 69:209-215.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 209-215
-
-
Patel, H.1
Hart, P.E.2
Warner, T.T.3
-
122
-
-
20044381663
-
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
-
Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 2005, 57:415-424.
-
(2005)
Ann Neurol
, vol.57
, pp. 415-424
-
-
Auer-Grumbach, M.1
Schlotter-Weigel, B.2
Lochmuller, H.3
-
123
-
-
10744229057
-
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
-
Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004, 36:271-276.
-
(2004)
Nat Genet
, vol.36
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
-
124
-
-
0000666624
-
Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity [Abstract]
-
Hentati A, Pericack-Vance MA, Hung W-Y, et al. Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity [Abstract]. Hum Genet 1993, 53:1013.
-
(1993)
Hum Genet
, vol.53
, pp. 1013
-
-
Hentati, A.1
Pericack-Vance, M.A.2
Hung, W.-Y.3
-
125
-
-
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, 5:49-54.
-
(2004)
Neurogenetics
, vol.5
, pp. 49-54
-
-
Muglia, M.1
Criscuolo, C.2
Magariello, A.3
-
126
-
-
4344633672
-
Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases
-
Tang BS, Chen X, Zhao GH, et al. Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. Chin Med J (Engl) 2004, 117:1002-1005.
-
(2004)
Chin Med J (Engl)
, vol.117
, pp. 1002-1005
-
-
Tang, B.S.1
Chen, X.2
Zhao, G.H.3
-
127
-
-
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 CC, Garner A, Huber G, et al. 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, 55:146-154.
-
(1990)
J Neurochem
, vol.55
, pp. 146-154
-
-
Garner, C.C.1
Garner, A.2
Huber, G.3
-
128
-
-
0345279856
-
Genetic localization of a new locus for recessive spastic paraplegia to 15q13-15
-
Martinez-Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive spastic paraplegia to 15q13-15. Neurology 1999, 53:50-56.
-
(1999)
Neurology
, vol.53
, pp. 50-56
-
-
Martinez-Murillo, F.1
Kobayashi, H.2
Pegoraro, E.3
-
129
-
-
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, 61:117-121.
-
(2004)
Arch Neurol
, vol.61
, pp. 117-121
-
-
Winner, B.1
Uyanik, G.2
Gross, C.3
-
130
-
-
0035826895
-
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q
-
Hughes CA, Byrne PC, Webb S, et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 2001, 56:1230-1233.
-
(2001)
Neurology
, vol.56
, pp. 1230-1233
-
-
Hughes, C.A.1
Byrne, P.C.2
Webb, S.3
-
131
-
-
0014085911
-
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting
-
Cross HE, McKusick VA The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16:473-485.
-
(1967)
Arch Neurol
, vol.16
, pp. 473-485
-
-
Cross, H.E.1
McKusick, V.A.2
-
132
-
-
4644268519
-
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia
-
Proukakis C, Cross H, Patel H, et al. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol 2004, 251:1105-1110.
-
(2004)
J Neurol
, vol.251
, pp. 1105-1110
-
-
Proukakis, C.1
Cross, H.2
Patel, H.3
-
133
-
-
0242691095
-
Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
-
Simpson MA, 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, 73:1147-1156.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
-
134
-
-
10744230526
-
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32
-
Blumen SC, Bevan S, Abu-Mouch S, et al. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol 2004, 54:796-803.
-
(2004)
Ann Neurol
, vol.54
, pp. 796-803
-
-
Blumen, S.C.1
Bevan, S.2
Abu-Mouch, S.3
-
135
-
-
0037168804
-
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
-
Hodgkinson CA, Bohlega S, Abu-Amero SN, et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 2002, 59:1905-1909.
-
(2002)
Neurology
, vol.59
, pp. 1905-1909
-
-
Hodgkinson, C.A.1
Bohlega, S.2
Abu-Amero, S.N.3
-
136
-
-
19944434326
-
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1*12q14
-
Wilkinson PA, Simpson MA, 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, 42:80-82.
-
(2005)
J Med Genet
, vol.42
, pp. 80-82
-
-
Wilkinson, P.A.1
Simpson, M.A.2
Bastaki, L.3
-
137
-
-
4844227593
-
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.110q24.1
-
Meijer IA, Cossette P, Roussel J, et al. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.110q24.1. Ann Neurol 2004, 56:579-582.
-
(2004)
Ann Neurol
, vol.56
, pp. 579-582
-
-
Meijer, I.A.1
Cossette, P.2
Roussel, J.3
-
138
-
-
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, 57:567-571.
-
(2005)
Ann Neurol
, vol.57
, pp. 567-571
-
-
Bouslam, N.1
Benomar, A.2
Azzedine, H.3
-
139
-
-
18244377139
-
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
-
Macedo-Souza LI, Kok F, Santos S, et al. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol 2005, 57:730-737.
-
(2005)
Ann Neurol
, vol.57
, pp. 730-737
-
-
Macedo-Souza, L.I.1
Kok, F.2
Santos, S.3
-
140
-
-
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, 7:402-407.
-
(1994)
Nat Genet
, vol.7
, pp. 402-407
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
-
141
-
-
0028236505
-
The rumpshaker mutation in spastic paraplegia
-
Kobayashi H, Hoffman EP, Marks HG The rumpshaker mutation in spastic paraplegia. Nat Genet 1994, 7:351-352.
-
(1994)
Nat Genet
, vol.7
, pp. 351-352
-
-
Kobayashi, H.1
Hoffman, E.P.2
Marks, H.G.3
-
142
-
-
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, 6:257-262.
-
(1994)
Nat Genet
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
-
143
-
-
0029863607
-
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
-
Cambi F, Tang XM, Cordray P, et al. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 1996, 46:1112-1117.
-
(1996)
Neurology
, vol.46
, pp. 1112-1117
-
-
Cambi, F.1
Tang, X.M.2
Cordray, P.3
-
144
-
-
0030839659
-
Evidence of a third locus in X-linked recessive spastic paraplegia [Letter]
-
Steinmuller R, Lantingua-Cruz A, Carcia-Garcia R, et al. Evidence of a third locus in X-linked recessive spastic paraplegia [Letter]. Hum Genet 1997, 100:287-289.
-
(1997)
Hum Genet
, vol.100
, pp. 287-289
-
-
Steinmuller, R.1
Lantingua-Cruz, A.2
Carcia-Garcia, R.3
-
145
-
-
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, 94:5-8.
-
(2000)
Am J Med Genet
, vol.94
, pp. 5-8
-
-
Tamagaki, A.1
Shima, M.2
Tomita, R.3
|