-
1
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding A.E. Hereditary spastic paraplegias. Semin Neurol 13 (1993) 333-336
-
(1993)
Semin Neurol
, vol.13
, pp. 333-336
-
-
Harding, A.E.1
-
2
-
-
0020641096
-
Classification of hereditary ataxias and paraplegias
-
Harding A.E. Classification of hereditary ataxias and paraplegias. Lancet 1 (1983) 1151-1155
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
3
-
-
0242270591
-
Advances in the hereditary spastic paraplegias
-
Fink J.K. Advances in the hereditary spastic paraplegias. Exp Neurol 184 suppl 1 (2003) S106-S110
-
(2003)
Exp Neurol
, vol.184
, Issue.SUPPL. 1
-
-
Fink, J.K.1
-
5
-
-
0031453761
-
Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal
-
Silva M.C., Coutinho P., Pinheiro C.D., Neves J.M., and Seneno P. Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal. J Clin Epidemiol 50 (1997) 1377-1384
-
(1997)
J Clin Epidemiol
, vol.50
, pp. 1377-1384
-
-
Silva, M.C.1
Coutinho, P.2
Pinheiro, C.D.3
Neves, J.M.4
Seneno, P.5
-
6
-
-
0019777963
-
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families
-
Harding A.E. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 44 (1981) 871-883
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 871-883
-
-
Harding, A.E.1
-
7
-
-
0028037953
-
The phenotype of "pure" autosomal dominant spastic paraplegia
-
Durr A., Brice A., Serdaru M., et al. The phenotype of "pure" autosomal dominant spastic paraplegia. Neurology 44 (1994) 1274-1277
-
(1994)
Neurology
, vol.44
, pp. 1274-1277
-
-
Durr, A.1
Brice, A.2
Serdaru, M.3
-
8
-
-
33746798981
-
Clinical features of hereditary spastic paraplegia due to spastin mutations
-
McDermott C.J., Burness C.E., Kirby J., et al. Clinical features of hereditary spastic paraplegia due to spastin mutations. Neurology 67 (2006) 45-51
-
(2006)
Neurology
, vol.67
, pp. 45-51
-
-
McDermott, C.J.1
Burness, C.E.2
Kirby, J.3
-
10
-
-
27644465298
-
Spinal cord MRI in autosomal dominant hereditary spastic paraplegia
-
Hedera P., Eldevik O.P., Maly P., Rainier S., and Fink J.K. Spinal cord MRI in autosomal dominant hereditary spastic paraplegia. Neuroradiology 47 (2005) 730-734
-
(2005)
Neuroradiology
, vol.47
, pp. 730-734
-
-
Hedera, P.1
Eldevik, O.P.2
Maly, P.3
Rainier, S.4
Fink, J.K.5
-
11
-
-
0030777273
-
MRI of autosomal dominant hereditary spastic paraplegia
-
Krabbe K., Nielsen J.E., Fallentin E., Fenger I.C., and Herning M. MRI of autosomal dominant hereditary spastic paraplegia. Neuroradiology 39 (1997) 725-727
-
(1997)
Neuroradiology
, vol.39
, pp. 725-727
-
-
Krabbe, K.1
Nielsen, J.E.2
Fallentin, E.3
Fenger, I.C.4
Herning, M.5
-
12
-
-
34548126166
-
Motor and somatosensory evoked potentials in autosomal dominant hereditary spastic paraplegia linked to chromosome 2p, SPG4
-
Sartucci F., Tavani S., Murri L., and Saggliocco L. Motor and somatosensory evoked potentials in autosomal dominant hereditary spastic paraplegia linked to chromosome 2p, SPG4. Brain Res Bull 74 (2007) 243-249
-
(2007)
Brain Res Bull
, vol.74
, pp. 243-249
-
-
Sartucci, F.1
Tavani, S.2
Murri, L.3
Saggliocco, L.4
-
14
-
-
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 7 (1994) 402-407
-
(1994)
Nat Genet
, vol.7
, pp. 402-407
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
-
15
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipoprotein locus
-
Saugier-Veber P., Munnich A., Bonneau D., et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipoprotein locus. Nat Genet 6 (1994) 257-262
-
(1994)
Nat Genet
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
-
16
-
-
0035184654
-
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
-
Zhao X., Alvarado D., Rainier S., et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29 (2001) 687-693
-
(2001)
Nat Genet
, vol.29
, pp. 687-693
-
-
Zhao, X.1
Alvarado, D.2
Rainier, S.3
-
17
-
-
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 23 (1999) 296-303
-
(1999)
Nat Genet
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
-
18
-
-
40749142468
-
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
-
Tsaousidou M., Ouahchi K., Warner T.T., et al. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82 (2008) 510-515
-
(2008)
Am J Hum Genet
, vol.82
, pp. 510-515
-
-
Tsaousidou, M.1
Ouahchi, K.2
Warner, T.T.3
-
19
-
-
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 73 (2003) 967-971
-
(2003)
Am J Hum Genet
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.3
-
20
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G., De Fusio M., Ciarmatori S., et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93 (1998) 973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusio, M.2
Ciarmatori, S.3
-
21
-
-
33845991876
-
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
-
Valdmanis P.N., Meijer I.A., Reynolds A., et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 80 (2007) 152-161
-
(2007)
Am J Hum Genet
, vol.80
, pp. 152-161
-
-
Valdmanis, P.N.1
Meijer, I.A.2
Reynolds, A.3
-
22
-
-
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 64 (1999) 586-593
-
(1999)
Am J Hum Genet
, vol.64
, pp. 586-593
-
-
Seri, M.1
Cusano, R.2
Forabosco, P.3
-
23
-
-
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 71 (2002) 1189-1194
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1189-1194
-
-
Reid, E.1
Kloos, M.2
Ashley-Koch, A.3
-
24
-
-
33847298447
-
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
-
Stevanin G., Santorelli F.M., Azzedine H., et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39 (2007) 366-372
-
(2007)
Nat Genet
, vol.39
, pp. 366-372
-
-
Stevanin, G.1
Santorelli, F.M.2
Azzedine, H.3
-
25
-
-
0033912569
-
A locus for autosomal dominant pure hereditary spastic paraplegia maps to chromosome 19q13
-
Reid E., Dearlove A.M., Rogers M.T., and Rubinztein D.C. A locus for autosomal dominant pure hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 66 (2000) 728-732
-
(2000)
Am J Hum Genet
, vol.66
, pp. 728-732
-
-
Reid, E.1
Dearlove, A.M.2
Rogers, M.T.3
Rubinztein, D.C.4
-
26
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding mitochondrial Hsp60
-
Hansen J.J., Durr A., Cournu-Rebeix I., et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding mitochondrial Hsp60. Am J Hum Genet 70 (2002) 1328-1332
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1328-1332
-
-
Hansen, J.J.1
Durr, A.2
Cournu-Rebeix, I.3
-
27
-
-
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., and Mostacciulo 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 67 (2000) 504-509
-
(2000)
Am J Hum Genet
, vol.67
, pp. 504-509
-
-
Vazza, G.1
Zortea, M.2
Boaretto, F.3
Micaglio, G.F.4
Sartori, V.5
Mostacciulo, M.L.6
-
28
-
-
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 82 (2008) 992-1002
-
(2008)
Am J Hum Genet
, vol.82
, pp. 992-1002
-
-
Hanein, S.1
Martin, E.2
Boukhris, A.3
-
29
-
-
0030839659
-
Evidence of a third locus in X-linked recessive spastic paraplegia
-
Steinmuller R., Lantigua-Cruz A., Garcia-Garcia R., Kostrzewa M., Steinberger D., and Muller U. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet 100 (1997) 287-289
-
(1997)
Hum Genet
, vol.100
, pp. 287-289
-
-
Steinmuller, R.1
Lantigua-Cruz, A.2
Garcia-Garcia, R.3
Kostrzewa, M.4
Steinberger, D.5
Muller, U.6
-
30
-
-
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 36 (2004) 271-276
-
(2004)
Nat Genet
, vol.36
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
-
31
-
-
0036260783
-
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
-
Valente E.M., Brancati F., Caputo V., et al. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann Neurol 51 (2002) 681-685
-
(2002)
Ann Neurol
, vol.51
, pp. 681-685
-
-
Valente, E.M.1
Brancati, F.2
Caputo, V.3
-
32
-
-
0036699065
-
SPG20 is mutated in Troyer Syndrome, a hereditary spastic paraplegia
-
Patel H., Cross H., Proukakis C., et al. SPG20 is mutated in Troyer Syndrome, a hereditary spastic paraplegia. Nat Genet 31 (2002) 347-348
-
(2002)
Nat Genet
, vol.31
, pp. 347-348
-
-
Patel, H.1
Cross, H.2
Proukakis, C.3
-
33
-
-
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 73 (2003) 1147-1156
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
-
34
-
-
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 54 (2005) 796-803
-
(2005)
Ann Neurol
, vol.54
, pp. 796-803
-
-
Blumen, S.C.1
Bevan, S.2
Abu-Mouch, S.3
-
35
-
-
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 59 (2002) 1905-1909
-
(2002)
Neurology
, vol.59
, pp. 1905-1909
-
-
Hodgkinson, C.A.1
Bohlega, S.2
Abu-Amero, S.N.3
-
36
-
-
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 39 (2002) 387-390
-
(2002)
J Med Genet
, vol.39
, pp. 387-390
-
-
Zortea, M.1
Vettori, A.2
Trevisan, C.P.3
-
37
-
-
19944434326
-
A new locus for autosomal complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
-
Wilkinson P.A., Simpson M.A., Proukakis C., et al. A new locus for autosomal complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet 42 (2005) 80-82
-
(2005)
J Med Genet
, vol.42
, pp. 80-82
-
-
Wilkinson, P.A.1
Simpson, M.A.2
Proukakis, C.3
-
38
-
-
4844227593
-
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-q24.1
-
Meijer I.A., Cosette P., Roussel J., Benard M., Toupin S., and Rouleau G.A. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-q24.1. Ann Neurol 56 (2004) 579-582
-
(2004)
Ann Neurol
, vol.56
, pp. 579-582
-
-
Meijer, I.A.1
Cosette, P.2
Roussel, J.3
Benard, M.4
Toupin, S.5
Rouleau, G.A.6
-
39
-
-
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 57 (2005) 567-571
-
(2005)
Ann Neurol
, vol.57
, pp. 567-571
-
-
Bouslam, N.1
Benomar, A.2
Azzedine, H.3
-
40
-
-
24644469037
-
A new locus for hereditary spastic paraplegia maps to chromosome 1p31.1-p21.1
-
Orlacchio A., Kawarai T., Gaudiello F., St George-Hyslop P.H., Floris R., and Bernardi G. A new locus for hereditary spastic paraplegia maps to chromosome 1p31.1-p21.1. Ann Neurol 58 (2005) 423-429
-
(2005)
Ann Neurol
, vol.58
, pp. 423-429
-
-
Orlacchio, A.1
Kawarai, T.2
Gaudiello, F.3
St George-Hyslop, P.H.4
Floris, R.5
Bernardi, G.6
-
41
-
-
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 129 (2006) 1456-1462
-
(2006)
Brain
, vol.129
, pp. 1456-1462
-
-
Klebe, S.1
Azzedine, H.2
Durr, A.3
-
42
-
-
33746554263
-
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
-
Zuchner S., Wang G., Tran-Viet K.N., et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 79 (2006) 365-369
-
(2006)
Am J Hum Genet
, vol.79
, pp. 365-369
-
-
Zuchner, S.1
Wang, G.2
Tran-Viet, K.N.3
-
43
-
-
34249008076
-
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
-
Stevanin G., Paternotte C., Coutinho P., et al. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology 68 (2007) 1837-1840
-
(2007)
Neurology
, vol.68
, pp. 1837-1840
-
-
Stevanin, G.1
Paternotte, C.2
Coutinho, P.3
-
44
-
-
50549092401
-
A novel locus for autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
-
Dick K.J., Al-Mjeni R., Baskir W., et al. A novel locus for autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 71 (2008) 248-252
-
(2008)
Neurology
, vol.71
, pp. 248-252
-
-
Dick, K.J.1
Al-Mjeni, R.2
Baskir, W.3
-
45
-
-
35448961687
-
A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
-
Hanein S., Durr A., Ribai P., et al. A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 122 (2007) 261-273
-
(2007)
Hum Genet
, vol.122
, pp. 261-273
-
-
Hanein, S.1
Durr, A.2
Ribai, P.3
-
46
-
-
44949220168
-
Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4
-
Orlacchio A., Patrone C., Gaudiello F., et al. Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. Neurology 70 (2008) 1959-1966
-
(2008)
Neurology
, vol.70
, pp. 1959-1966
-
-
Orlacchio, A.1
Patrone, C.2
Gaudiello, F.3
-
47
-
-
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 82 (2008) 780-785
-
(2008)
Am J Hum Genet
, vol.82
, pp. 780-785
-
-
Rainier, S.1
Bui, M.2
Mark, E.3
-
48
-
-
10844278272
-
Hereditary spastic paraplegia with cerebellar ataxia, a complex phenotype associated with a new SPG4 gene mutation
-
Nielsen J.E., Johnson B., Koeford P., et al. Hereditary spastic paraplegia with cerebellar ataxia, a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol 11 (2006) 817-824
-
(2006)
Eur J Neurol
, vol.11
, pp. 817-824
-
-
Nielsen, J.E.1
Johnson, B.2
Koeford, P.3
-
49
-
-
0035208727
-
A large family with hereditary spastic paraplegia due to a frame shift mutation of the SPG4 gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members
-
Mead S., Proukakis C., Wood N., Crosby A.H., Plant G.T., and Warner T.T. A large family with hereditary spastic paraplegia due to a frame shift mutation of the SPG4 gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J Neurol Neurosurg Psychiatry 71 (2001) 788-791
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.71
, pp. 788-791
-
-
Mead, S.1
Proukakis, C.2
Wood, N.3
Crosby, A.H.4
Plant, G.T.5
Warner, T.T.6
-
50
-
-
24044524225
-
Spastin related hereditary spastic paraplegia with dysplastic corpus callosum
-
Alber B., Pernauer M., Schwan A., et al. Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. J Neurol Sci 236 (2005) 9-12
-
(2005)
J Neurol Sci
, vol.236
, pp. 9-12
-
-
Alber, B.1
Pernauer, M.2
Schwan, A.3
-
51
-
-
0343238487
-
Age-related cognitive decline in hereditary spastic paraplegia linked to chromosome 2p
-
Byrne P., McMonagle P., Webb S., Fitzgerald B., Parfery N.A., and Hutchinson M. Age-related cognitive decline in hereditary spastic paraplegia linked to chromosome 2p. Neurology 54 (2000) 1510-1517
-
(2000)
Neurology
, vol.54
, pp. 1510-1517
-
-
Byrne, P.1
McMonagle, P.2
Webb, S.3
Fitzgerald, B.4
Parfery, N.A.5
Hutchinson, M.6
-
52
-
-
1042299828
-
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
-
McMonagle P., Byrne P., and Hutchinson M. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 62 (2004) 407-410
-
(2004)
Neurology
, vol.62
, pp. 407-410
-
-
McMonagle, P.1
Byrne, P.2
Hutchinson, M.3
-
53
-
-
0041522717
-
Subtle cognitive impairment but no dementia in patients with spastin mutations
-
Tallaksen C.M., Guichart-Gomez E., Verpillat P., et al. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 60 (2003) 1113-1118
-
(2003)
Arch Neurol
, vol.60
, pp. 1113-1118
-
-
Tallaksen, C.M.1
Guichart-Gomez, E.2
Verpillat, P.3
-
54
-
-
0034641262
-
Clinical and pathological findings in hereditary spastic paraplegia with spastin mutations
-
White K.D., Ince P.G., Lusher M., et al. Clinical and pathological findings in hereditary spastic paraplegia with spastin mutations. Neurology 55 (2000) 89-95
-
(2000)
Neurology
, vol.55
, pp. 89-95
-
-
White, K.D.1
Ince, P.G.2
Lusher, M.3
-
55
-
-
33645806761
-
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age of 10 years
-
Namekawa M., Ribai P., Nebon I., et al. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age of 10 years. Neurology 66 (2006) 112-114
-
(2006)
Neurology
, vol.66
, pp. 112-114
-
-
Namekawa, M.1
Ribai, P.2
Nebon, I.3
-
56
-
-
20044364199
-
A novel NIPA1 mutation associated with a pure form of hereditary spastic paraplegia
-
Reed J.A., Wilkinson P.A., Patel H., et al. A novel NIPA1 mutation associated with a pure form of hereditary spastic paraplegia. Neurogenetics 6 (2005) 79-84
-
(2005)
Neurogenetics
, vol.6
, pp. 79-84
-
-
Reed, J.A.1
Wilkinson, P.A.2
Patel, H.3
-
57
-
-
43149097861
-
HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier
-
Hewamadduma C.A., Kirby J., Kershaw C., et al. HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier. Neurology 70 (2008) 1717-1718
-
(2008)
Neurology
, vol.70
, pp. 1717-1718
-
-
Hewamadduma, C.A.1
Kirby, J.2
Kershaw, C.3
-
58
-
-
46149097136
-
Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
-
Magen D., Georgopoulos C., Bross P., et al. Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet 83 (2008) 30-42
-
(2008)
Am J Hum Genet
, vol.83
, pp. 30-42
-
-
Magen, D.1
Georgopoulos, C.2
Bross, P.3
-
59
-
-
41849124507
-
REEP1 mutation spectrum and genotype/phenotype correlation in HSP31
-
Beetz C., Schule R., DeConnit T., et al. REEP1 mutation spectrum and genotype/phenotype correlation in HSP31. Brain 131 (2008) 1078-1086
-
(2008)
Brain
, vol.131
, pp. 1078-1086
-
-
Beetz, C.1
Schule, R.2
DeConnit, T.3
-
60
-
-
33746536549
-
ZFYVE27 (SPG33), a novel spastin binding protein is mutated in hereditary spastic paraplegia
-
Mannan A.U., Krawan P., Sauter S.M., et al. ZFYVE27 (SPG33), a novel spastin binding protein is mutated in hereditary spastic paraplegia. Am J Hum Genet 79 (2006) 351-357
-
(2006)
Am J Hum Genet
, vol.79
, pp. 351-357
-
-
Mannan, A.U.1
Krawan, P.2
Sauter, S.M.3
-
61
-
-
46149108590
-
The role of ZFYVE27/protrudin in hereditary spastic paraplegia
-
Martignoni M., Riano E., and Rugarli E.I. The role of ZFYVE27/protrudin in hereditary spastic paraplegia. Am J Hum Genet 83 (2008) 127-128
-
(2008)
Am J Hum Genet
, vol.83
, pp. 127-128
-
-
Martignoni, M.1
Riano, E.2
Rugarli, E.I.3
-
62
-
-
46249121106
-
The role of ZFYVE27/protrudin in hereditary spastic paraplegia [author's reply]
-
Mannan A.U. The role of ZFYVE27/protrudin in hereditary spastic paraplegia [author's reply]. Am J Hum Genet 83 (2008) 128-130
-
(2008)
Am J Hum Genet
, vol.83
, pp. 128-130
-
-
Mannan, A.U.1
-
63
-
-
0028145138
-
Linkage of pure autosomal recessive 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 spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 3 (1994) 1263-1267
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1263-1267
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Hung, W.Y.3
-
64
-
-
2442542546
-
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
-
Wilkinson P.A., Crosby A.H., Turner C., et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 127 (2004) 973-980
-
(2004)
Brain
, vol.127
, pp. 973-980
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
-
65
-
-
42049108597
-
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
-
Paisan-Ruiz C., Dogu O., Yilmuz A., Houlden H., and Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology 70 (2008) 1384-1389
-
(2008)
Neurology
, vol.70
, pp. 1384-1389
-
-
Paisan-Ruiz, C.1
Dogu, O.2
Yilmuz, A.3
Houlden, H.4
Singleton, A.5
-
66
-
-
15444363703
-
PLP-1 related inherited dysmyelinating disorders Pelizaeus-Merzbacher disease and spastic paraplegia type 2
-
Inoue K. PLP-1 related inherited dysmyelinating disorders Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6 (2005) 1-16
-
(2005)
Neurogenetics
, vol.6
, pp. 1-16
-
-
Inoue, K.1
-
67
-
-
9444232285
-
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
-
Deluca G.C., Ebers G.C., and Esiri M.M. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol 30 (2004) 576-584
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 576-584
-
-
Deluca, G.C.1
Ebers, G.C.2
Esiri, M.M.3
-
68
-
-
0026631671
-
The neuropathology of hereditary spastic paraplegia
-
Bruyn R.P. The neuropathology of hereditary spastic paraplegia. Clin Neurol Neurosurg 94 suppl (1992) S16-S18
-
(1992)
Clin Neurol Neurosurg
, vol.94
, Issue.SUPPL
-
-
Bruyn, R.P.1
-
69
-
-
0242693281
-
The cellular and molecular pathology of the motor system in hereditary spastic paraplegia due to mutation of the spastin gene
-
Wharton S.B., McDermott C.J., Grierson A., et al. The cellular and molecular pathology of the motor system in hereditary spastic paraplegia due to mutation of the spastin gene. J Neuropathol Exp Neurol 62 (2003) 1166-1177
-
(2003)
J Neuropathol Exp Neurol
, vol.62
, pp. 1166-1177
-
-
Wharton, S.B.1
McDermott, C.J.2
Grierson, A.3
-
70
-
-
0036844683
-
Is the transportation highway the right road for hereditary spastic paraplegia?
-
Crosby A.H., and Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia?. Am J Hum Genet 71 (2002) 1009-1016
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1009-1016
-
-
Crosby, A.H.1
Proukakis, C.2
-
71
-
-
28444437387
-
Traffic accidents; molecular genetic insights into the pathogenesis of hereditary spastic paraplegias
-
Soderblom C., and Blackstone C. Traffic accidents; molecular genetic insights into the pathogenesis of hereditary spastic paraplegias. Pharmacol Ther 109 (2006) 42-56
-
(2006)
Pharmacol Ther
, vol.109
, pp. 42-56
-
-
Soderblom, C.1
Blackstone, C.2
-
73
-
-
34247623568
-
Coats, tethers, Rabs, and SNARES work together to mediate the intracellular destination of a transport vesicle
-
Cai H., Reinisch K., and Ferro-Novick S. Coats, tethers, Rabs, and SNARES work together to mediate the intracellular destination of a transport vesicle. Dev Cell 12 (2007) 671-682
-
(2007)
Dev Cell
, vol.12
, pp. 671-682
-
-
Cai, H.1
Reinisch, K.2
Ferro-Novick, S.3
-
74
-
-
14844331501
-
Molecular motors and mechanisms of directional transport in neurons
-
Hirokawa N., and Takemura R. Molecular motors and mechanisms of directional transport in neurons. Nat Rev Neurosci 6 (2005) 201-214
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 201-214
-
-
Hirokawa, N.1
Takemura, R.2
-
75
-
-
0037459061
-
The molecular motor toolbox for intracellular transport
-
Vale R.D. The molecular motor toolbox for intracellular transport. Cell 112 (2003) 467-480
-
(2003)
Cell
, vol.112
, pp. 467-480
-
-
Vale, R.D.1
-
76
-
-
36049044386
-
Message in a bottle: long-range retrograde signaling in the nervous system
-
Ibanez C.F. Message in a bottle: long-range retrograde signaling in the nervous system. Trends Cell Biol 17 (2007) 519-528
-
(2007)
Trends Cell Biol
, vol.17
, pp. 519-528
-
-
Ibanez, C.F.1
-
77
-
-
30544452263
-
The axonal transport of mitochondria
-
Hollenbeck P.J., and Saxton W.M. The axonal transport of mitochondria. J Cell Sci 118 (2005) 5411-5419
-
(2005)
J Cell Sci
, vol.118
, pp. 5411-5419
-
-
Hollenbeck, P.J.1
Saxton, W.M.2
-
78
-
-
14644404885
-
Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve
-
Perlson E., Hanz S., Ben-Yaakov K., Segal-Ruder Y., Seger R., and Fainzilber M. Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve. Neuron 45 (2005) 715-726
-
(2005)
Neuron
, vol.45
, pp. 715-726
-
-
Perlson, E.1
Hanz, S.2
Ben-Yaakov, K.3
Segal-Ruder, Y.4
Seger, R.5
Fainzilber, M.6
-
79
-
-
34547857774
-
Sumoylation in axons triggers retrograde transport of the RNA-binding protein La
-
van Niekerk E.A., Willis D.E., Chang J.H., Reumann K., Heise T., and Twiss J.L. Sumoylation in axons triggers retrograde transport of the RNA-binding protein La. Proc Natl Acad Sci USA 104 (2007) 12913-12918
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 12913-12918
-
-
van Niekerk, E.A.1
Willis, D.E.2
Chang, J.H.3
Reumann, K.4
Heise, T.5
Twiss, J.L.6
-
80
-
-
0026096809
-
Kinesin heavy chain is essential for viability and neuromuscular functions in Drosophila, but mutants show no defects in mitosis
-
Saxton W.M., Hicks J., Goldstein L.S., and Raff E.C. Kinesin heavy chain is essential for viability and neuromuscular functions in Drosophila, but mutants show no defects in mitosis. Cell 64 (1991) 1093-1102
-
(1991)
Cell
, vol.64
, pp. 1093-1102
-
-
Saxton, W.M.1
Hicks, J.2
Goldstein, L.S.3
Raff, E.C.4
-
81
-
-
0029911064
-
Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila
-
Hurd D.D., and Saxton W.M. Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila. Genetics 144 (1996) 1075-1085
-
(1996)
Genetics
, vol.144
, pp. 1075-1085
-
-
Hurd, D.D.1
Saxton, W.M.2
-
82
-
-
33749398995
-
The genetics of axonal transport and axonal transport disorders
-
Duncan J.E., and Goldstein L.S. The genetics of axonal transport and axonal transport disorders. PLoS Genet 2 (2006) e124
-
(2006)
PLoS Genet
, vol.2
-
-
Duncan, J.E.1
Goldstein, L.S.2
-
83
-
-
34249798456
-
New movements in neurofilament transport, turnover and disease
-
Barry D.M., Millecamps S., Julien J.P., and Garcia M.L. New movements in neurofilament transport, turnover and disease. Exp Cell Res 313 (2007) 2110-2120
-
(2007)
Exp Cell Res
, vol.313
, pp. 2110-2120
-
-
Barry, D.M.1
Millecamps, S.2
Julien, J.P.3
Garcia, M.L.4
-
84
-
-
34250677626
-
Cytoplasmic dynein and LIS1 are required for microtubule advance during growth cone remodeling and fast axonal outgrowth
-
Grabham P.W., Seale G.E., Bennecib M., Goldberg D.J., and Vallee R.B. Cytoplasmic dynein and LIS1 are required for microtubule advance during growth cone remodeling and fast axonal outgrowth. J Neurosci 27 (2007) 5823-5834
-
(2007)
J Neurosci
, vol.27
, pp. 5823-5834
-
-
Grabham, P.W.1
Seale, G.E.2
Bennecib, M.3
Goldberg, D.J.4
Vallee, R.B.5
-
85
-
-
33745868372
-
Axonal transport of microtubules: the long and the short of it
-
Baas P.W., Vidya Nadar C., and Myers K.A. Axonal transport of microtubules: the long and the short of it. Traffic 7 (2006) 490-498
-
(2006)
Traffic
, vol.7
, pp. 490-498
-
-
Baas, P.W.1
Vidya Nadar, C.2
Myers, K.A.3
-
86
-
-
42449148696
-
SPG10 is a rare cause of spastic paraplegia in European Families
-
Schule R., Kremer B.P., Kassabek J., et al. SPG10 is a rare cause of spastic paraplegia in European Families. J Neurol Neurosurg Psychiatry 79 (2008) 584-587
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 584-587
-
-
Schule, R.1
Kremer, B.P.2
Kassabek, J.3
-
87
-
-
42449095555
-
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity
-
Ebbing B., Mann K., Starosta A., et al. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet 17 (2008) 1245-1252
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1245-1252
-
-
Ebbing, B.1
Mann, K.2
Starosta, A.3
-
88
-
-
28844436513
-
Human spastin has multiple microtubule-related functions
-
Salinas S., Carazo-Salas R.E., Proukakis C., et al. Human spastin has multiple microtubule-related functions. J Neurochem 95 (2005) 1411-1420
-
(2005)
J Neurochem
, vol.95
, pp. 1411-1420
-
-
Salinas, S.1
Carazo-Salas, R.E.2
Proukakis, C.3
-
89
-
-
24944560482
-
Spastin subcellular localisation is regulated through usage of different translation start sites and active export from the nucleus
-
Claudiani P., Riano E., Errico A., Andolfi G., and Rugarli E. Spastin subcellular localisation is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res 309 (2005) 358-369
-
(2005)
Exp Cell Res
, vol.309
, pp. 358-369
-
-
Claudiani, P.1
Riano, E.2
Errico, A.3
Andolfi, G.4
Rugarli, E.5
-
90
-
-
39849101639
-
Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia
-
Solowska J.M., Morfini G., Falnikar A., et al. Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia. J Neurosci 28 (2008) 2147-2157
-
(2008)
J Neurosci
, vol.28
, pp. 2147-2157
-
-
Solowska, J.M.1
Morfini, G.2
Falnikar, A.3
-
91
-
-
0037381932
-
The identification of a conserved domain in both spastin and spartin, mutated in hereditary spastic paraplegia
-
Ciccarelli F.D., Proukakis C., Patel H., et al. The identification of a conserved domain in both spastin and spartin, mutated in hereditary spastic paraplegia. Genomics 81 (2003) 437-441
-
(2003)
Genomics
, vol.81
, pp. 437-441
-
-
Ciccarelli, F.D.1
Proukakis, C.2
Patel, H.3
-
92
-
-
34548314247
-
Spastin and microtubules: functions in health and disease
-
Salinas S., Carazo-Salas R.E., Proukakis C., Schiavo G., and Warner T.T. Spastin and microtubules: functions in health and disease. J Neurosci Res 85 (2007) 2778-2782
-
(2007)
J Neurosci Res
, vol.85
, pp. 2778-2782
-
-
Salinas, S.1
Carazo-Salas, R.E.2
Proukakis, C.3
Schiavo, G.4
Warner, T.T.5
-
93
-
-
33845696394
-
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
-
Beetz C., Nygren A., Schickel J., et al. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67 (2006) 1926-1930
-
(2006)
Neurology
, vol.67
, pp. 1926-1930
-
-
Beetz, C.1
Nygren, A.2
Schickel, J.3
-
94
-
-
0035006836
-
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
-
Svenson I.K., Ashley-Koch A.E., Gaskell P.C., et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 68 (2001) 1077-1085
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1077-1085
-
-
Svenson, I.K.1
Ashley-Koch, A.E.2
Gaskell, P.C.3
-
96
-
-
0037081740
-
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
-
Errico A., Ballabio A., and Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11 (2002) 153-163
-
(2002)
Hum Mol Genet
, vol.11
, pp. 153-163
-
-
Errico, A.1
Ballabio, A.2
Rugarli, E.I.3
-
97
-
-
5744240094
-
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and distal axon
-
Errico A., Claudiani P., D'Addio M., and Rugarli E.M. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and distal axon. Hum Mol Genet 13 (2004) 2121-2132
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2121-2132
-
-
Errico, A.1
Claudiani, P.2
D'Addio, M.3
Rugarli, E.M.4
-
98
-
-
44949204601
-
The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches
-
Yu W., Qiang L., Solowska J.M., Karabay A., Korulu S., and Baas P.W. The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches. Mol Biol Cell 19 (2008) 1485-1498
-
(2008)
Mol Biol Cell
, vol.19
, pp. 1485-1498
-
-
Yu, W.1
Qiang, L.2
Solowska, J.M.3
Karabay, A.4
Korulu, S.5
Baas, P.W.6
-
99
-
-
13944283245
-
Linking axonal degeneration to microtubule remodeling by spastin-mediated microtubule severing
-
Evans K.J., Gomes E.R., Reisenweber S.M., Gundersen G.G., and Lauring B.P. Linking axonal degeneration to microtubule remodeling by spastin-mediated microtubule severing. J Cell Biol 168 (2005) 599-606
-
(2005)
J Cell Biol
, vol.168
, pp. 599-606
-
-
Evans, K.J.1
Gomes, E.R.2
Reisenweber, S.M.3
Gundersen, G.G.4
Lauring, B.P.5
-
100
-
-
17144424690
-
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules
-
Roll-Mecak A., and Vale R.D. The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. Curr Biol 15 (2005) 650-655
-
(2005)
Curr Biol
, vol.15
, pp. 650-655
-
-
Roll-Mecak, A.1
Vale, R.D.2
-
101
-
-
12344250580
-
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated protein CHMP1B
-
Reid E., Connell J., Edwards T.L., Dooley S., Brown S.E., and Sanderson C.M. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated protein CHMP1B. Hum Mol Genet 14 (2005) 19-30
-
(2005)
Hum Mol Genet
, vol.14
, pp. 19-30
-
-
Reid, E.1
Connell, J.2
Edwards, T.L.3
Dooley, S.4
Brown, S.E.5
Sanderson, C.M.6
-
102
-
-
31144453436
-
Spastin and atlastin, the proteins mutated in autosomal dominant hereditary spastic paraplegia, are binding proteins
-
Sanderson C.M., Connell J., Edwards T.L., et al. Spastin and atlastin, the proteins mutated in autosomal dominant hereditary spastic paraplegia, are binding proteins. Hum Mol Genet 15 (2006) 307-318
-
(2006)
Hum Mol Genet
, vol.15
, pp. 307-318
-
-
Sanderson, C.M.1
Connell, J.2
Edwards, T.L.3
-
103
-
-
33947713961
-
Recognition of C-terminal amino acids in tubulin by pore loops in spastin is important for microtubule severing
-
White S.R., Evans K.J., Lary J., Cole J.L., and Lauring B. Recognition of C-terminal amino acids in tubulin by pore loops in spastin is important for microtubule severing. J Cell Biol 176 (2007) 995-1005
-
(2007)
J Cell Biol
, vol.176
, pp. 995-1005
-
-
White, S.R.1
Evans, K.J.2
Lary, J.3
Cole, J.L.4
Lauring, B.5
-
104
-
-
38349097870
-
Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin
-
Roll-Mecak A., and Vale R.D. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature 451 (2008) 363-367
-
(2008)
Nature
, vol.451
, pp. 363-367
-
-
Roll-Mecak, A.1
Vale, R.D.2
-
105
-
-
3142647116
-
The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
-
Trotta N., Orso G., Rossetto M.G., Daga A., and Broadie K. The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Curr Biol 14 (2004) 1135-1147
-
(2004)
Curr Biol
, vol.14
, pp. 1135-1147
-
-
Trotta, N.1
Orso, G.2
Rossetto, M.G.3
Daga, A.4
Broadie, K.5
-
106
-
-
33748747401
-
The microtubule-severing protein spastin is essential for axon outgrowth in the zebrafish embryo
-
Wood J.D., Landers J.A., Bingley M., et al. The microtubule-severing protein spastin is essential for axon outgrowth in the zebrafish embryo. Hum Mol Genet 19 (2006) 2763-2771
-
(2006)
Hum Mol Genet
, vol.19
, pp. 2763-2771
-
-
Wood, J.D.1
Landers, J.A.2
Bingley, M.3
-
107
-
-
33845353014
-
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
-
Tarrade A., Fassier C., Courageot S., et al. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet 15 (2006) 3544-3558
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3544-3558
-
-
Tarrade, A.1
Fassier, C.2
Courageot, S.3
-
108
-
-
0344664376
-
Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation
-
McDermott C.J., Grierson A.J., Wood J.D., et al. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol 54 (2003) 748-759
-
(2003)
Ann Neurol
, vol.54
, pp. 748-759
-
-
McDermott, C.J.1
Grierson, A.J.2
Wood, J.D.3
-
109
-
-
34247547922
-
Mutations in SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
-
Namekawa M., Muriel M.P., Jones A., et al. Mutations in SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci 35 (2007) 1-13
-
(2007)
Mol Cell Neurosci
, vol.35
, pp. 1-13
-
-
Namekawa, M.1
Muriel, M.P.2
Jones, A.3
-
110
-
-
44349157134
-
Atlastin GTPase are required for Golgi apparatus and ER morphogenesis
-
Rismanchi N., Soderblom C., Staedler J., Zhu P.P., and Blackstone C. Atlastin GTPase are required for Golgi apparatus and ER morphogenesis. Hum Mol Genet 17 (2008) 1591-1604
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1591-1604
-
-
Rismanchi, N.1
Soderblom, C.2
Staedler, J.3
Zhu, P.P.4
Blackstone, C.5
-
111
-
-
33645834754
-
SPG3A protein atlastin-1 is enriched in growth cones and promotes axonal elongation
-
Zhu P.P., Soderblom C., Tao-Cheng J.H., Stadler J., and Blackstone C. SPG3A protein atlastin-1 is enriched in growth cones and promotes axonal elongation. Hum Mol Genet 15 (2006) 1343-1353
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1343-1353
-
-
Zhu, P.P.1
Soderblom, C.2
Tao-Cheng, J.H.3
Stadler, J.4
Blackstone, C.5
-
112
-
-
33746094658
-
Interaction of 2 hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
-
Evans K., Keller C., Pavur K., et al. Interaction of 2 hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci USA 103 (2006) 10666-10671
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 10666-10671
-
-
Evans, K.1
Keller, C.2
Pavur, K.3
-
114
-
-
33846631991
-
Drosophila spichthyin inhibits BMP signalling and regulates synaptic growth and axonal microtubules
-
Wang X., Shaw W.R., Tsang H.T., Reid E., and O'Kane C.J. Drosophila spichthyin inhibits BMP signalling and regulates synaptic growth and axonal microtubules. Nat Neurosci 10 (2007) 177-185
-
(2007)
Nat Neurosci
, vol.10
, pp. 177-185
-
-
Wang, X.1
Shaw, W.R.2
Tsang, H.T.3
Reid, E.4
O'Kane, C.J.5
-
115
-
-
37849037355
-
Long term course and mutational spectrum of spatacsin-linked spastic paraplegia
-
Hehr U., Bauer P., Winner B., et al. Long term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 62 (2007) 656-665
-
(2007)
Ann Neurol
, vol.62
, pp. 656-665
-
-
Hehr, U.1
Bauer, P.2
Winner, B.3
-
116
-
-
34248193319
-
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking
-
Bakowska J.C., Jupille H., Fatheddin P., Puetollano R., and Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. Mol Cell Biol 18 (2007) 1683-1692
-
(2007)
Mol Cell Biol
, vol.18
, pp. 1683-1692
-
-
Bakowska, J.C.1
Jupille, H.2
Fatheddin, P.3
Puetollano, R.4
Blackstone, C.5
-
117
-
-
33748043331
-
The HSP protein spartin localises to mitochondria
-
Lu J., Rashid F., and Byrne P.C. The HSP protein spartin localises to mitochondria. J Neurochem 98 (2006) 1908-1919
-
(2006)
J Neurochem
, vol.98
, pp. 1908-1919
-
-
Lu, J.1
Rashid, F.2
Byrne, P.C.3
-
118
-
-
33747611457
-
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localisation suggesting diverse roles in neurons
-
Robay D., Patel H., Simpson M., Brown N.A., and Crosby A.H. Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localisation suggesting diverse roles in neurons. Exp Cell Res 312 (2006) 2764-2777
-
(2006)
Exp Cell Res
, vol.312
, pp. 2764-2777
-
-
Robay, D.1
Patel, H.2
Simpson, M.3
Brown, N.A.4
Crosby, A.H.5
-
119
-
-
0035937780
-
Cloning of ACP33 as a novel intracellular ligand of CD4
-
Zeitlmann L., Sirim P., Kremmer E., and Kolanus W. Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem 276 (2001) 9123-9132
-
(2001)
J Biol Chem
, vol.276
, pp. 9123-9132
-
-
Zeitlmann, L.1
Sirim, P.2
Kremmer, E.3
Kolanus, W.4
-
120
-
-
26844484821
-
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
-
Nolden M., Ehses S., Koppen M., et al. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 123 (2005) 277-289
-
(2005)
Cell
, vol.123
, pp. 277-289
-
-
Nolden, M.1
Ehses, S.2
Koppen, M.3
-
121
-
-
33846127778
-
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia
-
Koppen M., Metodier M., Casari G., et al. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol 27 (2007) 758-767
-
(2007)
Mol Cell Biol
, vol.27
, pp. 758-767
-
-
Koppen, M.1
Metodier, M.2
Casari, G.3
-
122
-
-
42049097275
-
A clinical, genetic and biochemical study of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
-
Arnoldi A., Tonelli A., Cripps F., et al. A clinical, genetic and biochemical study of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mut 29 (2008) 522-531
-
(2008)
Hum Mut
, vol.29
, pp. 522-531
-
-
Arnoldi, A.1
Tonelli, A.2
Cripps, F.3
-
123
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F., Quattrini A., Pirrozi M., et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113 (2004) 231-242
-
(2004)
J Clin Invest
, vol.113
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirrozi, M.3
-
124
-
-
40849142484
-
The motor protein AFG3L2 is essential for axonal development
-
Maltecca F., Aghaie A., Schroder D.G., et al. The motor protein AFG3L2 is essential for axonal development. J Neurosci 28 (2008) 2827-2836
-
(2008)
J Neurosci
, vol.28
, pp. 2827-2836
-
-
Maltecca, F.1
Aghaie, A.2
Schroder, D.G.3
-
125
-
-
43049159563
-
Decreased expression of mitochondrial matrix proteases Lon and ClpP in cells from patient with hereditary spastic paraplegia (SPG13)
-
Hansen J., Coryden T.J., Palmfeldt J., et al. Decreased expression of mitochondrial matrix proteases Lon and ClpP in cells from patient with hereditary spastic paraplegia (SPG13). Neuroscience 153 (2008) 474-482
-
(2008)
Neuroscience
, vol.153
, pp. 474-482
-
-
Hansen, J.1
Coryden, T.J.2
Palmfeldt, J.3
-
126
-
-
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., and 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 43 (2006) 441-443
-
(2006)
J Med Genet
, vol.43
, pp. 441-443
-
-
Bouhouche, A.1
Benomar, A.2
Bouslam, N.3
Chkili, T.4
Yahyaoui, M.5
-
127
-
-
38049184643
-
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junction and is important for droplet morphology
-
Szymanski K.M., Binns D., Bart Z., et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junction and is important for droplet morphology. Proc Natl Acad Sci USA 104 (2007) 20890-20895
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 20890-20895
-
-
Szymanski, K.M.1
Binns, D.2
Bart, Z.3
-
128
-
-
34147092113
-
Molecular pathogenesis of seipin/BSCL2 related motor neuron diseases
-
Ito D., and Suzuki N. Molecular pathogenesis of seipin/BSCL2 related motor neuron diseases. Ann Neurol 61 (2007) 237-250
-
(2007)
Ann Neurol
, vol.61
, pp. 237-250
-
-
Ito, D.1
Suzuki, N.2
-
129
-
-
0033952114
-
Structural and functional evolution of the L1 family: are four adhesion molecules better than one?
-
Hortsch M. Structural and functional evolution of the L1 family: are four adhesion molecules better than one?. Mol Cell Neurosci 15 (2000) 1-10
-
(2000)
Mol Cell Neurosci
, vol.15
, pp. 1-10
-
-
Hortsch, M.1
-
130
-
-
3142674927
-
Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia
-
Edgar J.M., McLaughlin M., Yool D., et al. Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J Cell Biol 166 (2004) 121-131
-
(2004)
J Cell Biol
, vol.166
, pp. 121-131
-
-
Edgar, J.M.1
McLaughlin, M.2
Yool, D.3
-
131
-
-
0036189424
-
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length dependent axonal degeneration in the absence of demyelination or inflammation
-
Garbern J.Y., Yool D.A., Moore G.J., et al. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length dependent axonal degeneration in the absence of demyelination or inflammation. Brain 125 (2002) 551-561
-
(2002)
Brain
, vol.125
, pp. 551-561
-
-
Garbern, J.Y.1
Yool, D.A.2
Moore, G.J.3
-
132
-
-
33750347347
-
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
-
Lin M.T., and Beal M.F. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 443 (2006) 787-795
-
(2006)
Nature
, vol.443
, pp. 787-795
-
-
Lin, M.T.1
Beal, M.F.2
|