-
1
-
-
0034031598
-
Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis
-
Shaw P.J., and Eggett C.J. Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis. J. Neurol. 247 Suppl. 1 (2000) I17-I27
-
(2000)
J. Neurol.
, vol.247
, Issue.SUPPL. 1
-
-
Shaw, P.J.1
Eggett, C.J.2
-
2
-
-
11944259586
-
Evolutionary diversity of vertebrate small heat shock proteins
-
Franck E., Madsen O., van Rheede T., Ricard G., Huynen M.A., and de Jong W.W. Evolutionary diversity of vertebrate small heat shock proteins. J. Mol. Evol. 59 6 (2004) 792-805
-
(2004)
J. Mol. Evol.
, vol.59
, Issue.6
, pp. 792-805
-
-
Franck, E.1
Madsen, O.2
van Rheede, T.3
Ricard, G.4
Huynen, M.A.5
de Jong, W.W.6
-
3
-
-
0037358061
-
The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10
-
Kappe G., Franck E., Verschuure P., Boelens W.C., Leunissen J.A., and de Jong W.W. The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10. Cell Stress Chaperones 8 1 (2003) 53-61
-
(2003)
Cell Stress Chaperones
, vol.8
, Issue.1
, pp. 53-61
-
-
Kappe, G.1
Franck, E.2
Verschuure, P.3
Boelens, W.C.4
Leunissen, J.A.5
de Jong, W.W.6
-
4
-
-
2642563501
-
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
-
Evgrafov O.V., Mersiyanova I., Irobi J., Van Den Bosch L., Dierick I., Leung C.L., et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat. Genet. 36 6 (2004) 602-606
-
(2004)
Nat. Genet.
, vol.36
, Issue.6
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, I.2
Irobi, J.3
Van Den Bosch, L.4
Dierick, I.5
Leung, C.L.6
-
5
-
-
2642539919
-
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
-
[see comment]
-
Irobi J., Van Impe K., Seeman P., Jordanova A., Dierick I., Verpoorten N., et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. [see comment]. Nat. Genet. 36 6 (2004) 597-601
-
(2004)
Nat. Genet.
, vol.36
, Issue.6
, pp. 597-601
-
-
Irobi, J.1
Van Impe, K.2
Seeman, P.3
Jordanova, A.4
Dierick, I.5
Verpoorten, N.6
-
6
-
-
26944431622
-
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy
-
Kijima K., Numakura C., Goto T., Takahashi T., Otagiri T., Umetsu K., et al. Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J. Hum. Genet. 50 9 (2005) 473-476
-
(2005)
J. Hum. Genet.
, vol.50
, Issue.9
, pp. 473-476
-
-
Kijima, K.1
Numakura, C.2
Goto, T.3
Takahashi, T.4
Otagiri, T.5
Umetsu, K.6
-
7
-
-
22644433190
-
Mutation analysis of the small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease
-
Tang B., Liu X., Zhao G., Luo W., Xia K., Pan Q., et al. Mutation analysis of the small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease. Arch. Neurol. 62 8 (2005) 1201-1207
-
(2005)
Arch. Neurol.
, vol.62
, Issue.8
, pp. 1201-1207
-
-
Tang, B.1
Liu, X.2
Zhao, G.3
Luo, W.4
Xia, K.5
Pan, Q.6
-
8
-
-
0034882062
-
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21
-
Ismailov S.M., Fedotov V.P., Dadali E.L., Polyakov A.V., Van Broeckhoven C., Ivanov V.I., et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur. J. Hum. Genet. 9 8 (2001) 646-650
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, Issue.8
, pp. 646-650
-
-
Ismailov, S.M.1
Fedotov, V.P.2
Dadali, E.L.3
Polyakov, A.V.4
Van Broeckhoven, C.5
Ivanov, V.I.6
-
9
-
-
0035920143
-
HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)
-
Benndorf R., Sun X., Gilmont R.R., Biederman K.J., Molloy M.P., Goodmurphy C.W., et al. HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27). J. Biol. Chem. 276 29 (2001) 26753-26761
-
(2001)
J. Biol. Chem.
, vol.276
, Issue.29
, pp. 26753-26761
-
-
Benndorf, R.1
Sun, X.2
Gilmont, R.R.3
Biederman, K.J.4
Molloy, M.P.5
Goodmurphy, C.W.6
-
10
-
-
0030035987
-
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24
-
Timmerman V., De Jonghe P., Simokovic S., Lofgren A., Beuten J., Nelis E., et al. Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. Hum. Mol. Genet. 5 7 (1996) 1065-1069
-
(1996)
Hum. Mol. Genet.
, vol.5
, Issue.7
, pp. 1065-1069
-
-
Timmerman, V.1
De Jonghe, P.2
Simokovic, S.3
Lofgren, A.4
Beuten, J.5
Nelis, E.6
-
11
-
-
2642580251
-
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24
-
Tang B.S., Luo W., Xia K., Xiao J.F., Jiang H., Shen L., et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum. Genet. 114 6 (2004) 527-533
-
(2004)
Hum. Genet.
, vol.114
, Issue.6
, pp. 527-533
-
-
Tang, B.S.1
Luo, W.2
Xia, K.3
Xiao, J.F.4
Jiang, H.5
Shen, L.6
-
12
-
-
19944433659
-
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
-
Tang B.S., Zhao G.H., Luo W., Xia K., Cai F., Pan Q., et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 116 3 (2005) 222-224
-
(2005)
Hum. Genet.
, vol.116
, Issue.3
, pp. 222-224
-
-
Tang, B.S.1
Zhao, G.H.2
Luo, W.3
Xia, K.4
Cai, F.5
Pan, Q.6
-
13
-
-
0026521028
-
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree
-
Timmerman V., Raeymaekers P., Nelis E., De Jonghe P., Muylle L., Ceuterick C., et al. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J. Neurol. Sci. 109 1 (1992) 41-48
-
(1992)
J. Neurol. Sci.
, vol.109
, Issue.1
, pp. 41-48
-
-
Timmerman, V.1
Raeymaekers, P.2
Nelis, E.3
De Jonghe, P.4
Muylle, L.5
Ceuterick, C.6
-
14
-
-
14044272999
-
Small heat shock proteins HSP27 and alphaB-crystallin: cytoprotective and oncogenic functions
-
Parcellier A., Schmitt E., Brunet M., Hammann A., Solary E., and Garrido C. Small heat shock proteins HSP27 and alphaB-crystallin: cytoprotective and oncogenic functions. Antioxid. Redox Signal. 7 3-4 (2005) 404-413
-
(2005)
Antioxid. Redox Signal.
, vol.7
, Issue.3-4
, pp. 404-413
-
-
Parcellier, A.1
Schmitt, E.2
Brunet, M.3
Hammann, A.4
Solary, E.5
Garrido, C.6
-
15
-
-
0027391629
-
Small heat shock proteins are molecular chaperones
-
Jakob U., Gaestel M., Engel K., and Buchner J. Small heat shock proteins are molecular chaperones. J. Biol. Chem. 268 3 (1993) 1517-1520
-
(1993)
J. Biol. Chem.
, vol.268
, Issue.3
, pp. 1517-1520
-
-
Jakob, U.1
Gaestel, M.2
Engel, K.3
Buchner, J.4
-
16
-
-
0026483279
-
Alpha-crystallin can function as a molecular chaperone
-
Horwitz J. Alpha-crystallin can function as a molecular chaperone. Proc. Natl. Acad. Sci. U. S. A. 89 21 (1992) 10449-10453
-
(1992)
Proc. Natl. Acad. Sci. U. S. A.
, vol.89
, Issue.21
, pp. 10449-10453
-
-
Horwitz, J.1
-
17
-
-
21244489544
-
HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells
-
Carra S., Sivilotti M., Chavez Zobel A.T., Lambert H., and Landry J. HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells. Hum. Mol. Genet. 14 12 (2005) 1659-1669
-
(2005)
Hum. Mol. Genet.
, vol.14
, Issue.12
, pp. 1659-1669
-
-
Carra, S.1
Sivilotti, M.2
Chavez Zobel, A.T.3
Lambert, H.4
Landry, J.5
-
18
-
-
0035718677
-
Structure and function of the small heat shock protein/alpha-crystallin family of molecular chaperones
-
Van Montfort R., Slingsby C., and Vierling E. Structure and function of the small heat shock protein/alpha-crystallin family of molecular chaperones. Adv. Protein Chem. 59 (2001) 105-156
-
(2001)
Adv. Protein Chem.
, vol.59
, pp. 105-156
-
-
Van Montfort, R.1
Slingsby, C.2
Vierling, E.3
-
19
-
-
0026570931
-
Human HSP27 is phosphorylated at serines 78 and 82 by heat shock and mitogen-activated kinases that recognize the same amino acid motif as S6 kinase II
-
Landry J., Lambert H., Zhou M., Lavoie J.N., Hickey E., Weber L.A., et al. Human HSP27 is phosphorylated at serines 78 and 82 by heat shock and mitogen-activated kinases that recognize the same amino acid motif as S6 kinase II. J. Biol. Chem. 267 2 (1992) 794-803
-
(1992)
J. Biol. Chem.
, vol.267
, Issue.2
, pp. 794-803
-
-
Landry, J.1
Lambert, H.2
Zhou, M.3
Lavoie, J.N.4
Hickey, E.5
Weber, L.A.6
-
20
-
-
0027400129
-
Transient activation of a distinct serine protein kinase is responsible for 27-kDa heat shock protein phosphorylation in mitogen-stimulated and heat-shocked cells
-
Zhou M., Lambert H., and Landry J. Transient activation of a distinct serine protein kinase is responsible for 27-kDa heat shock protein phosphorylation in mitogen-stimulated and heat-shocked cells. J. Biol. Chem. 268 1 (1993) 35-43
-
(1993)
J. Biol. Chem.
, vol.268
, Issue.1
, pp. 35-43
-
-
Zhou, M.1
Lambert, H.2
Landry, J.3
-
21
-
-
0035072677
-
Protein kinase inhibitors can suppress stress-induced dissociation of Hsp27
-
Kato K., Ito H., Iwamoto I., Lida K., and Inaguma Y. Protein kinase inhibitors can suppress stress-induced dissociation of Hsp27. Cell Stress Chaperones 6 1 (2001) 16-20
-
(2001)
Cell Stress Chaperones
, vol.6
, Issue.1
, pp. 16-20
-
-
Kato, K.1
Ito, H.2
Iwamoto, I.3
Lida, K.4
Inaguma, Y.5
-
22
-
-
0346463052
-
Interactions between small heat shock protein subunits and substrate in small heat shock protein-substrate complexes
-
Friedrich K.L., Giese K.C., Buan N.R., and Vierling E. Interactions between small heat shock protein subunits and substrate in small heat shock protein-substrate complexes. J. Biol. Chem. 279 2 (2004) 1080-1089
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.2
, pp. 1080-1089
-
-
Friedrich, K.L.1
Giese, K.C.2
Buan, N.R.3
Vierling, E.4
-
23
-
-
18444366777
-
In search of the molecular mechanism by which small stress proteins counteract apoptosis during cellular differentiation
-
Arrigo A.P. In search of the molecular mechanism by which small stress proteins counteract apoptosis during cellular differentiation. Journal of Cellular Biochemistry 94 2 (2005) 241-246
-
(2005)
Journal of Cellular Biochemistry
, vol.94
, Issue.2
, pp. 241-246
-
-
Arrigo, A.P.1
-
24
-
-
0034282104
-
Hsp27 negatively regulates cell death by interacting with cytochrome c
-
Bruey J.M., Ducasse C., Bonniaud P., Ravagnan L., Susin S.A., Diaz-Latoud C., et al. Hsp27 negatively regulates cell death by interacting with cytochrome c. Nat. Cell Biol. 2 9 (2000) 645-652
-
(2000)
Nat. Cell Biol.
, vol.2
, Issue.9
, pp. 645-652
-
-
Bruey, J.M.1
Ducasse, C.2
Bonniaud, P.3
Ravagnan, L.4
Susin, S.A.5
Diaz-Latoud, C.6
-
25
-
-
0037246247
-
On the role of Hsp27 in regulating apoptosis
-
Concannon C.G., Gorman A.M., and Samali A. On the role of Hsp27 in regulating apoptosis. Apoptosis 8 1 (2003) 61-70
-
(2003)
Apoptosis
, vol.8
, Issue.1
, pp. 61-70
-
-
Concannon, C.G.1
Gorman, A.M.2
Samali, A.3
-
26
-
-
16544394130
-
Regulation of apoptotic signal transduction pathways by the heat shock proteins
-
Li Z., Zhao X., and Wei Y. Regulation of apoptotic signal transduction pathways by the heat shock proteins. Sci. China, C Life Sci. 47 2 (2004) 107-114
-
(2004)
Sci. China, C Life Sci.
, vol.47
, Issue.2
, pp. 107-114
-
-
Li, Z.1
Zhao, X.2
Wei, Y.3
-
27
-
-
0033953533
-
Transcriptional regulation involving the intronic heat shock element of the rat hsp27 gene
-
Cooper L.F., Uoshima K., and Guo Z. Transcriptional regulation involving the intronic heat shock element of the rat hsp27 gene. Biochim. Biophys. Acta 1490 3 (2000) 348-354
-
(2000)
Biochim. Biophys. Acta
, vol.1490
, Issue.3
, pp. 348-354
-
-
Cooper, L.F.1
Uoshima, K.2
Guo, Z.3
-
28
-
-
0034659505
-
Chaperone hsp27 inhibits translation during heat shock by binding eIF4G and facilitating dissociation of cap-initiation complexes
-
Cuesta R., Laroia G., and Schneider R.J. Chaperone hsp27 inhibits translation during heat shock by binding eIF4G and facilitating dissociation of cap-initiation complexes. Genes Dev. 14 12 (2000) 1460-1470
-
(2000)
Genes Dev.
, vol.14
, Issue.12
, pp. 1460-1470
-
-
Cuesta, R.1
Laroia, G.2
Schneider, R.J.3
-
29
-
-
0036186869
-
Hsp27: novel regulator of intracellular redox state
-
Arrigo A.P. Hsp27: novel regulator of intracellular redox state. IUBMB Life 52 6 (2001) 303-307
-
(2001)
IUBMB Life
, vol.52
, Issue.6
, pp. 303-307
-
-
Arrigo, A.P.1
-
30
-
-
11844257596
-
Cytotoxic effects induced by oxidative stress in cultured mammalian cells and protection provided by Hsp27 expression
-
Arrigo A.P., Firdaus W.J., Mellier G., Moulin M., Paul C., Diaz-latoud C., et al. Cytotoxic effects induced by oxidative stress in cultured mammalian cells and protection provided by Hsp27 expression. Methods (Duluth) 35 2 (2005) 126-138
-
(2005)
Methods (Duluth)
, vol.35
, Issue.2
, pp. 126-138
-
-
Arrigo, A.P.1
Firdaus, W.J.2
Mellier, G.3
Moulin, M.4
Paul, C.5
Diaz-latoud, C.6
-
31
-
-
0028817419
-
Constitutive expression of human hsp27, Drosophila hsp27, or human alpha B-crystallin confers resistance to TNF- and oxidative stress-induced cytotoxicity in stably transfected murine L929 fibroblasts
-
Mehlen P., Preville X., Chareyron P., Briolay J., Klemenz R., and Arrigo A.P. Constitutive expression of human hsp27, Drosophila hsp27, or human alpha B-crystallin confers resistance to TNF- and oxidative stress-induced cytotoxicity in stably transfected murine L929 fibroblasts. J. Immunol. 154 1 (1995) 363-374
-
(1995)
J. Immunol.
, vol.154
, Issue.1
, pp. 363-374
-
-
Mehlen, P.1
Preville, X.2
Chareyron, P.3
Briolay, J.4
Klemenz, R.5
Arrigo, A.P.6
-
32
-
-
0033664329
-
The distribution of heat shock proteins in the nervous system of the unstressed mouse embryo suggests a role in neuronal and non-neuronal differentiation
-
Loones M.T., Chang Y., and Morange M. The distribution of heat shock proteins in the nervous system of the unstressed mouse embryo suggests a role in neuronal and non-neuronal differentiation. Cell Stress Chaperones 5 4 (2000) 291-305
-
(2000)
Cell Stress Chaperones
, vol.5
, Issue.4
, pp. 291-305
-
-
Loones, M.T.1
Chang, Y.2
Morange, M.3
-
33
-
-
26444474220
-
Hsp27 and axonal growth in adult sensory neurons in vitro
-
Williams K.L., Rahimtula M., and Mearow K.M. Hsp27 and axonal growth in adult sensory neurons in vitro. BMC Neurosci. 6 1 (2005) 24
-
(2005)
BMC Neurosci.
, vol.6
, Issue.1
, pp. 24
-
-
Williams, K.L.1
Rahimtula, M.2
Mearow, K.M.3
-
34
-
-
0036883535
-
Chaperones and aging: role in neurodegeneration and in other civilizational diseases
-
Soti C., and Csermely P. Chaperones and aging: role in neurodegeneration and in other civilizational diseases. Neurochem. Int. 41 6 (2002) 383-389
-
(2002)
Neurochem. Int.
, vol.41
, Issue.6
, pp. 383-389
-
-
Soti, C.1
Csermely, P.2
-
35
-
-
0033968166
-
Small heat-shock proteins and their potential role in human disease
-
Clark J.I., and Muchowski P.J. Small heat-shock proteins and their potential role in human disease. Curr. Opin. Struct. Biol. 10 1 (2000) 52-59
-
(2000)
Curr. Opin. Struct. Biol.
, vol.10
, Issue.1
, pp. 52-59
-
-
Clark, J.I.1
Muchowski, P.J.2
-
36
-
-
11144243412
-
Modulation of neurodegeneration by molecular chaperones
-
Muchowski P.J., and Wacker J.L. Modulation of neurodegeneration by molecular chaperones. Nat. Rev., Neurosci. 6 1 (2005) 11-22
-
(2005)
Nat. Rev., Neurosci.
, vol.6
, Issue.1
, pp. 11-22
-
-
Muchowski, P.J.1
Wacker, J.L.2
-
37
-
-
0036841876
-
Upregulation of HSP27 in a transgenic model of ALS
-
Vleminckx V., Van Damme P., Goffin K., Delye H., Van Den Bosch L., and Robberecht W. Upregulation of HSP27 in a transgenic model of ALS. J. Neuropathol. Exp. Neurol. 61 11 (2002) 968-974
-
(2002)
J. Neuropathol. Exp. Neurol.
, vol.61
, Issue.11
, pp. 968-974
-
-
Vleminckx, V.1
Van Damme, P.2
Goffin, K.3
Delye, H.4
Van Den Bosch, L.5
Robberecht, W.6
-
38
-
-
17044403380
-
Hsp27 and Hsp70 administered in combination have a potent protective effect against FALS-associated SOD1-mutant-induced cell death in mammalian neuronal cells
-
Patel Y.J., Payne Smith M.D., de Belleroche J., and Latchman D.S. Hsp27 and Hsp70 administered in combination have a potent protective effect against FALS-associated SOD1-mutant-induced cell death in mammalian neuronal cells. Brain Res. Mol. Brain Res. 134 2 (2005) 256-274
-
(2005)
Brain Res. Mol. Brain Res.
, vol.134
, Issue.2
, pp. 256-274
-
-
Patel, Y.J.1
Payne Smith, M.D.2
de Belleroche, J.3
Latchman, D.S.4
-
39
-
-
16544382615
-
The IXI/V motif in the C-terminal extension of alpha-crystallins: alternative interactions and oligomeric assemblies
-
Pasta S.Y., Raman B., Ramakrishna T., and Rao C.M. The IXI/V motif in the C-terminal extension of alpha-crystallins: alternative interactions and oligomeric assemblies. Mol. Vis. 10 (2004) 655-662
-
(2004)
Mol. Vis.
, vol.10
, pp. 655-662
-
-
Pasta, S.Y.1
Raman, B.2
Ramakrishna, T.3
Rao, C.M.4
-
40
-
-
31144453053
-
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes
-
Ackerley S., James P.A., Kalli A., French S., Davies K.E., and Talbot K. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum. Mol. Genet. 15 2 (2006) 347-354
-
(2006)
Hum. Mol. Genet.
, vol.15
, Issue.2
, pp. 347-354
-
-
Ackerley, S.1
James, P.A.2
Kalli, A.3
French, S.4
Davies, K.E.5
Talbot, K.6
-
41
-
-
0031934121
-
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
-
Litt M., Kramer P., LaMorticella D.M., Murphey W., Lovrien E.W., and Weleber R.G. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum. Mol. Genet. 7 3 (1998) 471-474
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.3
, pp. 471-474
-
-
Litt, M.1
Kramer, P.2
LaMorticella, D.M.3
Murphey, W.4
Lovrien, E.W.5
Weleber, R.G.6
-
42
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P., Caron A., Guicheney P., Li Z., Prevost M.C., Faure A., et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat. Genet. 20 1 (1998) 92-95
-
(1998)
Nat. Genet.
, vol.20
, Issue.1
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prevost, M.C.5
Faure, A.6
-
43
-
-
0037108280
-
A positive charge preservation at position 116 of alpha A-crystallin is critical for its structural and functional integrity
-
Bera S., Thampi P., Cho W.J., and Abraham E.C. A positive charge preservation at position 116 of alpha A-crystallin is critical for its structural and functional integrity. Biochemistry 41 41 (2002) 12421-12426
-
(2002)
Biochemistry
, vol.41
, Issue.41
, pp. 12421-12426
-
-
Bera, S.1
Thampi, P.2
Cho, W.J.3
Abraham, E.C.4
-
44
-
-
0029010709
-
Cloning, sequencing and bacterial expression of human glycine tRNA synthetase
-
Williams J., Osvath S., Khong T.F., Pearse M., and Power D. Cloning, sequencing and bacterial expression of human glycine tRNA synthetase. Nucleic Acids Res. 23 8 (1995) 1307-1310
-
(1995)
Nucleic Acids Res.
, vol.23
, Issue.8
, pp. 1307-1310
-
-
Williams, J.1
Osvath, S.2
Khong, T.F.3
Pearse, M.4
Power, D.5
-
45
-
-
0029145426
-
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
-
Christodoulou K., Kyriakides T., Hristova A.H., Georgiou D.M., Kalaydjieva L., Yshpekova B., et al. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum. Mol. Genet. 4 9 (1995) 1629-1632
-
(1995)
Hum. Mol. Genet.
, vol.4
, Issue.9
, pp. 1629-1632
-
-
Christodoulou, K.1
Kyriakides, T.2
Hristova, A.H.3
Georgiou, D.M.4
Kalaydjieva, L.5
Yshpekova, B.6
-
46
-
-
0029831478
-
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
-
Ionasescu V., Searby C., Sheffield V.C., Roklina T., Nishimura D., and Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum. Mol. Genet. 5 9 (1996) 1373-1375
-
(1996)
Hum. Mol. Genet.
, vol.5
, Issue.9
, pp. 1373-1375
-
-
Ionasescu, V.1
Searby, C.2
Sheffield, V.C.3
Roklina, T.4
Nishimura, D.5
Ionasescu, R.6
-
47
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
Antonellis A., Ellsworth R.E., Sambuughin N., Puls I., Abel A., Lee-Lin S.Q., et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72 5 (2003) 1293-1299
-
(2003)
Am. J. Hum. Genet.
, vol.72
, Issue.5
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
Puls, I.4
Abel, A.5
Lee-Lin, S.Q.6
-
48
-
-
26044454330
-
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
-
Sivakumar K., Kyriakides T., Puls I., Nicholson G.A., Funalot B., Antonellis A., et al. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain 128 Pt. 10 (2005) 2304-2314
-
(2005)
Brain
, vol.128
, Issue.PART 10
, pp. 2304-2314
-
-
Sivakumar, K.1
Kyriakides, T.2
Puls, I.3
Nicholson, G.A.4
Funalot, B.5
Antonellis, A.6
-
49
-
-
0034714380
-
Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)
-
Friesen W.J., and Dreyfuss G. Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN). J. Biol. Chem. 275 34 (2000) 26370-26375
-
(2000)
J. Biol. Chem.
, vol.275
, Issue.34
, pp. 26370-26375
-
-
Friesen, W.J.1
Dreyfuss, G.2
-
50
-
-
31744448271
-
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
-
Jordanova A., Irobi J., Thomas F.P., Van Dijck P., Meerschaert K., Dewil M., et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat. Genet. 38 2 (2006) 197-202
-
(2006)
Nat. Genet.
, vol.38
, Issue.2
, pp. 197-202
-
-
Jordanova, A.1
Irobi, J.2
Thomas, F.P.3
Van Dijck, P.4
Meerschaert, K.5
Dewil, M.6
-
52
-
-
0037734370
-
Mutations in dynein link motor neuron degeneration to defects in retrograde transport
-
Hafezparast M., Klocke R., Ruhrberg C., Marquardt A., Ahmad-Annuar A., Bowen S., et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 300 5620 (2003) 808-812
-
(2003)
Science
, vol.300
, Issue.5620
, pp. 808-812
-
-
Hafezparast, M.1
Klocke, R.2
Ruhrberg, C.3
Marquardt, A.4
Ahmad-Annuar, A.5
Bowen, S.6
-
53
-
-
0037198698
-
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration
-
LaMonte B.H., Wallace K.E., Holloway B.A., Shelly S.S., Ascano J., Tokito M., et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34 5 (2002) 715-727
-
(2002)
Neuron
, vol.34
, Issue.5
, pp. 715-727
-
-
LaMonte, B.H.1
Wallace, K.E.2
Holloway, B.A.3
Shelly, S.S.4
Ascano, J.5
Tokito, M.6
-
54
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., et al. Mutant dynactin in motor neuron disease. Nat. Genet. 33 4 (2003) 455-456
-
(2003)
Nat. Genet.
, vol.33
, Issue.4
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
LaMonte, B.H.3
Holzbaur, E.L.4
Tokito, M.5
Mann, E.6
-
55
-
-
20944448536
-
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
-
Puls I., Oh S.J., Sumner C.J., Wallace K.E., Floeter M.K., Mann E.A., et al. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann. Neurol. 57 5 (2005) 687-694
-
(2005)
Ann. Neurol.
, vol.57
, Issue.5
, pp. 687-694
-
-
Puls, I.1
Oh, S.J.2
Sumner, C.J.3
Wallace, K.E.4
Floeter, M.K.5
Mann, E.A.6
-
56
-
-
27644558934
-
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
-
Munch C., Rosenbohm A., Sperfeld A.D., Uttner I., Reske S., Krause B.J., et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann. Neurol. 58 5 (2005) 777-780
-
(2005)
Ann. Neurol.
, vol.58
, Issue.5
, pp. 777-780
-
-
Munch, C.1
Rosenbohm, A.2
Sperfeld, A.D.3
Uttner, I.4
Reske, S.5
Krause, B.J.6
-
57
-
-
4143084861
-
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
-
Munch C., Sedlmeier R., Meyer T., Homberg V., Sperfeld A.D., Kurt A., et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63 4 (2004) 724-726
-
(2004)
Neurology
, vol.63
, Issue.4
, pp. 724-726
-
-
Munch, C.1
Sedlmeier, R.2
Meyer, T.3
Homberg, V.4
Sperfeld, A.D.5
Kurt, A.6
-
58
-
-
0141614845
-
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders
-
Ahmad-Annuar A., Shah P., Hafezparast M., Hummerich H., Witherden A.S., Morrison K.E., et al. No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders. Amyotroph. Lateral. Scler. Other Motor. Neuron Disord. 4 3 (2003) 150-157
-
(2003)
Amyotroph. Lateral. Scler. Other Motor. Neuron Disord.
, vol.4
, Issue.3
, pp. 150-157
-
-
Ahmad-Annuar, A.1
Shah, P.2
Hafezparast, M.3
Hummerich, H.4
Witherden, A.S.5
Morrison, K.E.6
-
59
-
-
0028334717
-
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
-
Hentati A., Bejaoui K., Pericak-Vance M.A., Hentati F., Speer M.C., Hung W.Y., et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat. Genet. 7 3 (1994) 425-428
-
(1994)
Nat. Genet.
, vol.7
, Issue.3
, pp. 425-428
-
-
Hentati, A.1
Bejaoui, K.2
Pericak-Vance, M.A.3
Hentati, F.4
Speer, M.C.5
Hung, W.Y.6
-
60
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat. Genet. 29 2 (2001) 166-173
-
(2001)
Nat. Genet.
, vol.29
, Issue.2
, pp. 166-173
-
-
Hadano, S.1
Hand, C.K.2
Osuga, H.3
Yanagisawa, Y.4
Otomo, A.5
Devon, R.S.6
-
61
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
Yang Y., Hentati A., Deng H.X., Dabbagh O., Sasaki T., Hirano M., et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat. Genet. 29 2 (2001) 160-165
-
(2001)
Nat. Genet.
, vol.29
, Issue.2
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
Dabbagh, O.4
Sasaki, T.5
Hirano, M.6
-
62
-
-
0042914405
-
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
-
Devon R.S., Helm J.R., Rouleau G.A., Leitner Y., Lerman-Sagie T., Lev D., et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin. Genet. 64 3 (2003) 210-215
-
(2003)
Clin. Genet.
, vol.64
, Issue.3
, pp. 210-215
-
-
Devon, R.S.1
Helm, J.R.2
Rouleau, G.A.3
Leitner, Y.4
Lerman-Sagie, T.5
Lev, D.6
-
63
-
-
0036724052
-
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
-
Eymard-Pierre E., Lesca G., Dollet S., Santorelli F.M., di Capua M., Bertini E., et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am. J. Hum. Genet. 71 3 (2002) 518-527
-
(2002)
Am. J. Hum. Genet.
, vol.71
, Issue.3
, pp. 518-527
-
-
Eymard-Pierre, E.1
Lesca, G.2
Dollet, S.3
Santorelli, F.M.4
di Capua, M.5
Bertini, E.6
-
64
-
-
0037234133
-
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
-
Gros-Louis F., Meijer I.A., Hand C.K., Dube M.P., MacGregor D.L., Seni M.H., et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann. Neurol. 53 1 (2003) 144-145
-
(2003)
Ann. Neurol.
, vol.53
, Issue.1
, pp. 144-145
-
-
Gros-Louis, F.1
Meijer, I.A.2
Hand, C.K.3
Dube, M.P.4
MacGregor, D.L.5
Seni, M.H.6
-
65
-
-
0037465372
-
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families
-
Lesca G., Eymard-Pierre E., Santorelli F.M., Cusmai R., Di Capua M., Valente E.M., et al. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60 4 (2003) 674-682
-
(2003)
Neurology
, vol.60
, Issue.4
, pp. 674-682
-
-
Lesca, G.1
Eymard-Pierre, E.2
Santorelli, F.M.3
Cusmai, R.4
Di Capua, M.5
Valente, E.M.6
-
66
-
-
0028891994
-
Familial childhood primary lateral sclerosis with associated gaze paresis
-
Gascon G.G., Chavis P., Yaghmour A., Stigsby B., Shums A., Ozand P., et al. Familial childhood primary lateral sclerosis with associated gaze paresis. Neuropediatrics 26 6 (1995) 313-319
-
(1995)
Neuropediatrics
, vol.26
, Issue.6
, pp. 313-319
-
-
Gascon, G.G.1
Chavis, P.2
Yaghmour, A.3
Stigsby, B.4
Shums, A.5
Ozand, P.6
-
67
-
-
0025237394
-
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
-
Ben Hamida M., Hentati F., and Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain 113 Pt 2 (1990) 347-363
-
(1990)
Brain
, vol.113
, Issue.PART 2
, pp. 347-363
-
-
Ben Hamida, M.1
Hentati, F.2
Ben Hamida, C.3
-
68
-
-
0041308082
-
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics
-
Otomo A., Hadano S., Okada T., Mizumura H., Kunita R., Nishijima H., et al. ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum. Mol. Genet. 12 14 (2003) 1671-1687
-
(2003)
Hum. Mol. Genet.
, vol.12
, Issue.14
, pp. 1671-1687
-
-
Otomo, A.1
Hadano, S.2
Okada, T.3
Mizumura, H.4
Kunita, R.5
Nishijima, H.6
-
69
-
-
27144530084
-
ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth
-
Tudor E.L., Perkinton M.S., Schmidt A., Ackerley S., Brownlees J., Jacobsen N.J., et al. ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth. J. Biol. Chem. 280 41 (2005) 34735-34740
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.41
, pp. 34735-34740
-
-
Tudor, E.L.1
Perkinton, M.S.2
Schmidt, A.3
Ackerley, S.4
Brownlees, J.5
Jacobsen, N.J.6
-
70
-
-
2642536202
-
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
-
Topp J.D., Gray N.W., Gerard R.D., and Horazdovsky B.F. Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J. Biol. Chem. 279 23 (2004) 24612-24623
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.23
, pp. 24612-24623
-
-
Topp, J.D.1
Gray, N.W.2
Gerard, R.D.3
Horazdovsky, B.F.4
-
71
-
-
0027357251
-
Regulation of endocytosis by the small GTP-ase rab5
-
Zerial M. Regulation of endocytosis by the small GTP-ase rab5. Cytotechnology 11 Suppl. 1 (1993) S47-S49
-
(1993)
Cytotechnology
, vol.11
, Issue.SUPPL. 1
-
-
Zerial, M.1
-
72
-
-
0346734108
-
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
-
Yamanaka K., Vande Velde C., Eymard-Pierre E., Bertini E., Boespflug-Tanguy O., and Cleveland D.W. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc. Natl. Acad. Sci. U. S. A. 100 26 (2003) 16041-16046
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, Issue.26
, pp. 16041-16046
-
-
Yamanaka, K.1
Vande Velde, C.2
Eymard-Pierre, E.3
Bertini, E.4
Boespflug-Tanguy, O.5
Cleveland, D.W.6
-
73
-
-
4644247430
-
Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking
-
Kunita R., Otomo A., Mizumura H., Suzuki K., Showguchi-Miyata J., Yanagisawa Y., et al. Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking. J. Biol. Chem. 279 37 (2004) 38626-38635
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.37
, pp. 38626-38635
-
-
Kunita, R.1
Otomo, A.2
Mizumura, H.3
Suzuki, K.4
Showguchi-Miyata, J.5
Yanagisawa, Y.6
-
74
-
-
0141725516
-
Microtubule and Rac 1-dependent F-actin in growth cones
-
Grabham P.W., Reznik B., and Goldberg D.J. Microtubule and Rac 1-dependent F-actin in growth cones. J. Cell Sci. 116 Pt 18 (2003) 3739-3748
-
(2003)
J. Cell Sci.
, vol.116
, Issue.PART 18
, pp. 3739-3748
-
-
Grabham, P.W.1
Reznik, B.2
Goldberg, D.J.3
-
75
-
-
0031795592
-
Rac1-dependent actin filament organization in growth cones is necessary for beta1-integrin-mediated advance but not for growth on poly-d-lysine
-
Kuhn T.B., Brown M.D., and Bamburg J.R. Rac1-dependent actin filament organization in growth cones is necessary for beta1-integrin-mediated advance but not for growth on poly-d-lysine. J. Neurobiol. 37 4 (1998) 524-540
-
(1998)
J. Neurobiol.
, vol.37
, Issue.4
, pp. 524-540
-
-
Kuhn, T.B.1
Brown, M.D.2
Bamburg, J.R.3
-
76
-
-
2442463319
-
Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants
-
Kanekura K., Hashimoto Y., Niikura T., Aiso S., Matsuoka M., and Nishimoto I. Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants. J. Biol. Chem. 279 18 (2004) 19247-19256
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.18
, pp. 19247-19256
-
-
Kanekura, K.1
Hashimoto, Y.2
Niikura, T.3
Aiso, S.4
Matsuoka, M.5
Nishimoto, I.6
-
77
-
-
31144448704
-
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
-
Hadano S., Benn S.C., Kakuta S., Otomo A., Sudo K., Kunita R., et al. Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. Hum. Mol. Genet. 15 2 (2006) 233-250
-
(2006)
Hum. Mol. Genet.
, vol.15
, Issue.2
, pp. 233-250
-
-
Hadano, S.1
Benn, S.C.2
Kakuta, S.3
Otomo, A.4
Sudo, K.5
Kunita, R.6
-
78
-
-
0032816137
-
Autosomal dominant juvenile amyotrophic lateral sclerosis
-
Rabin B.A., Griffin J.W., Crain B.J., Scavina M., Chance P.F., and Cornblath D.R. Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain 122 Pt. 8 (1999) 1539-1550
-
(1999)
Brain
, vol.122
, Issue.PART 8
, pp. 1539-1550
-
-
Rabin, B.A.1
Griffin, J.W.2
Crain, B.J.3
Scavina, M.4
Chance, P.F.5
Cornblath, D.R.6
-
79
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen Y.Z., Bennett C.L., Huynh H.M., Blair I.P., Puls I., Irobi J., et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet. 74 6 (2004) 1128-1135
-
(2004)
Am. J. Hum. Genet.
, vol.74
, Issue.6
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
Blair, I.P.4
Puls, I.5
Irobi, J.6
-
80
-
-
0031959591
-
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
-
Chance P.F., Rabin B.A., Ryan S.G., Ding Y., Scavina M., Crain B., et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am. J. Hum. Genet. 62 3 (1998) 633-640
-
(1998)
Am. J. Hum. Genet.
, vol.62
, Issue.3
, pp. 633-640
-
-
Chance, P.F.1
Rabin, B.A.2
Ryan, S.G.3
Ding, Y.4
Scavina, M.5
Crain, B.6
-
81
-
-
0036263895
-
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
-
De Jonghe P., Auer-Grumbach M., Irobi J., Wagner K., Plecko B., Kennerson M., et al. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?. Brain 125 Pt 6 (2002) 1320-1325
-
(2002)
Brain
, vol.125
, Issue.PART 6
, pp. 1320-1325
-
-
De Jonghe, P.1
Auer-Grumbach, M.2
Irobi, J.3
Wagner, K.4
Plecko, B.5
Kennerson, M.6
-
82
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
Moreira M.C., Klur S., Watanabe M., Nemeth A.H., Le Ber I., Moniz J.C., et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat. Genet. 36 3 (2004) 225-227
-
(2004)
Nat. Genet.
, vol.36
, Issue.3
, pp. 225-227
-
-
Moreira, M.C.1
Klur, S.2
Watanabe, M.3
Nemeth, A.H.4
Le Ber, I.5
Moniz, J.C.6
-
83
-
-
20044374998
-
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
-
Duquette A., Roddier K., McNabb-Baltar J., Gosselin I., St-Denis A., Dicaire M.J., et al. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann. Neurol. 57 3 (2005) 408-414
-
(2005)
Ann. Neurol.
, vol.57
, Issue.3
, pp. 408-414
-
-
Duquette, A.1
Roddier, K.2
McNabb-Baltar, J.3
Gosselin, I.4
St-Denis, A.5
Dicaire, M.J.6
-
84
-
-
26444557429
-
New autosomal recessive cerebellar ataxias with oculomotor apraxia
-
Le Ber I., Brice A., and Durr A. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr. Neurol. Neurosci. Rep. 5 5 (2005) 411-417
-
(2005)
Curr. Neurol. Neurosci. Rep.
, vol.5
, Issue.5
, pp. 411-417
-
-
Le Ber, I.1
Brice, A.2
Durr, A.3
-
85
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
-
Grohmann K., Schuelke M., Diers A., Hoffmann K., Lucke B., Adams C., et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat. Genet. 29 1 (2001) 75-77
-
(2001)
Nat. Genet.
, vol.29
, Issue.1
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
Hoffmann, K.4
Lucke, B.5
Adams, C.6
-
86
-
-
1942533604
-
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
-
Nishimura A.L., Mitne-Neto M., Silva H.C., Oliveira J.R., Vainzof M., and Zatz M. A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J. Med. Genet. 41 4 (2004) 315-320
-
(2004)
J. Med. Genet.
, vol.41
, Issue.4
, pp. 315-320
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Oliveira, J.R.4
Vainzof, M.5
Zatz, M.6
-
87
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura A.L., Mitne-Neto M., Silva H.C., Richieri-Costa A., Middleton S., Cascio D., et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75 5 (2004) 822-831
-
(2004)
Am. J. Hum. Genet.
, vol.75
, Issue.5
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Richieri-Costa, A.4
Middleton, S.5
Cascio, D.6
-
88
-
-
30744469869
-
A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population
-
Nishimura A.L., Al-Chalabi A., and Zatz M. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum. Genet. (2005) 1-2
-
(2005)
Hum. Genet.
, pp. 1-2
-
-
Nishimura, A.L.1
Al-Chalabi, A.2
Zatz, M.3
-
89
-
-
0033534788
-
Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins
-
Nishimura Y., Hayashi M., Inada H., and Tanaka T. Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. Biochem. Biophys. Res. Commun. 254 1 (1999) 21-26
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.254
, Issue.1
, pp. 21-26
-
-
Nishimura, Y.1
Hayashi, M.2
Inada, H.3
Tanaka, T.4
-
90
-
-
0037130456
-
Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner
-
Pennetta G., Hiesinger P., Fabian-Fine R., Meinertzhagen I., and Bellen H. Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner. Neuron 35 2 (2002) 291-306
-
(2002)
Neuron
, vol.35
, Issue.2
, pp. 291-306
-
-
Pennetta, G.1
Hiesinger, P.2
Fabian-Fine, R.3
Meinertzhagen, I.4
Bellen, H.5
-
91
-
-
0029148242
-
A VAMP-binding protein from Aplysia required for neurotransmitter release
-
Skehel P.A., Martin K.C., Kandel E.R., and Bartsch D. A VAMP-binding protein from Aplysia required for neurotransmitter release. Science 269 5230 (1995) 1580-1583
-
(1995)
Science
, vol.269
, Issue.5230
, pp. 1580-1583
-
-
Skehel, P.A.1
Martin, K.C.2
Kandel, E.R.3
Bartsch, D.4
-
92
-
-
0033967492
-
Mouse VAP33 is associated with the endoplasmic reticulum and microtubules
-
Skehel P.A., Fabian-Fine R., and Kandel E.R. Mouse VAP33 is associated with the endoplasmic reticulum and microtubules. Proc. Natl. Acad. Sci. U. S. A. 97 3 (2000) 1101-1106
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, Issue.3
, pp. 1101-1106
-
-
Skehel, P.A.1
Fabian-Fine, R.2
Kandel, E.R.3
-
93
-
-
0013923447
-
Familial spastic paraplegia with amyotrophy of the hands
-
Silver J.R. Familial spastic paraplegia with amyotrophy of the hands. Ann. Hum. Genet. 30 1 (1966) 69-75
-
(1966)
Ann. Hum. Genet.
, vol.30
, Issue.1
, pp. 69-75
-
-
Silver, J.R.1
-
94
-
-
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 P.E., Warner T.T., Houlston R.S., Patton M.A., Jeffery S., 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. 69 1 (2001) 209-215
-
(2001)
Am. J. Hum. Genet.
, vol.69
, Issue.1
, pp. 209-215
-
-
Patel, H.1
Hart, P.E.2
Warner, T.T.3
Houlston, R.S.4
Patton, M.A.5
Jeffery, S.6
-
95
-
-
0343090417
-
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study
-
Auer-Grumbach M., Loscher W.N., Wagner K., Petek E., Korner E., Offenbacher H., et al. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. Brain 123 Pt 8 (2000) 1612-1623
-
(2000)
Brain
, vol.123
, Issue.PART 8
, pp. 1612-1623
-
-
Auer-Grumbach, M.1
Loscher, W.N.2
Wagner, K.3
Petek, E.4
Korner, E.5
Offenbacher, H.6
-
96
-
-
10744229057
-
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
-
Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E., Horl G., et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat. Genet. 36 3 (2004) 271-276
-
(2004)
Nat. Genet.
, vol.36
, Issue.3
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
Patel, H.4
Petek, E.5
Horl, G.6
-
97
-
-
20044381663
-
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
-
Auer-Grumbach M., Schlotter-Weigel B., Lochmuller H., Strobl-Wildemann G., Auer-Grumbach P., Fischer R., et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann. Neurol. 57 3 (2005) 415-424
-
(2005)
Ann. Neurol.
, vol.57
, Issue.3
, pp. 415-424
-
-
Auer-Grumbach, M.1
Schlotter-Weigel, B.2
Lochmuller, H.3
Strobl-Wildemann, G.4
Auer-Grumbach, P.5
Fischer, R.6
-
98
-
-
4344641102
-
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
-
Irobi J., Van den Bergh P., Merlini L., Verellen C., Van Maldergem L., Dierick I., et al. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 127 Pt 9 (2004) 2124-2130
-
(2004)
Brain
, vol.127
, Issue.PART 9
, pp. 2124-2130
-
-
Irobi, J.1
Van den Bergh, P.2
Merlini, L.3
Verellen, C.4
Van Maldergem, L.5
Dierick, I.6
-
99
-
-
0034941121
-
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
-
Magre J., Delepine M., Khallouf E., Gedde-Dahl Jr. T., Van Maldergem L., Sobel E., et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat. Genet. 28 4 (2001) 365-370
-
(2001)
Nat. Genet.
, vol.28
, Issue.4
, pp. 365-370
-
-
Magre, J.1
Delepine, M.2
Khallouf, E.3
Gedde-Dahl Jr., T.4
Van Maldergem, L.5
Sobel, E.6
-
100
-
-
4444261794
-
Seipin: a mysterious protein
-
Agarwal A.K., and Garg A. Seipin: a mysterious protein. Trends Mol. Med. 10 9 (2004) 440-444
-
(2004)
Trends Mol. Med.
, vol.10
, Issue.9
, pp. 440-444
-
-
Agarwal, A.K.1
Garg, A.2
-
101
-
-
21644477404
-
Quantitative evidence for neurofilament heavy subunit aggregation in motor neurons of spinal cords of patients with amyotrophic lateral sclerosis
-
Mendonca D.M., Chimelli L., and Martinez A.M. Quantitative evidence for neurofilament heavy subunit aggregation in motor neurons of spinal cords of patients with amyotrophic lateral sclerosis. Braz. J. Med. Biol. Res. 38 6 (2005) 925-933
-
(2005)
Braz. J. Med. Biol. Res.
, vol.38
, Issue.6
, pp. 925-933
-
-
Mendonca, D.M.1
Chimelli, L.2
Martinez, A.M.3
-
102
-
-
0027465098
-
Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis
-
Cote F., Collard J.F., and Julien J.P. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73 1 (1993) 35-46
-
(1993)
Cell
, vol.73
, Issue.1
, pp. 35-46
-
-
Cote, F.1
Collard, J.F.2
Julien, J.P.3
-
103
-
-
0027410516
-
Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease
-
Xu Z., Cork L.C., Griffin J.W., and Cleveland D.W. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 73 1 (1993) 23-33
-
(1993)
Cell
, vol.73
, Issue.1
, pp. 23-33
-
-
Xu, Z.1
Cork, L.C.2
Griffin, J.W.3
Cleveland, D.W.4
-
104
-
-
0032926368
-
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
-
Al-Chalabi A., Andersen P.M., Nilsson P., Chioza B., Andersson J.L., Russ C., et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum. Mol. Genet. 8 2 (1999) 157-164
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.2
, pp. 157-164
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Nilsson, P.3
Chioza, B.4
Andersson, J.L.5
Russ, C.6
-
105
-
-
0028001606
-
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
Figlewicz D.A., Krizus A., Martinoli M.G., Meininger V., Dib M., Rouleau G.A., et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Mol. Genet. 3 10 (1994) 1757-1761
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.10
, pp. 1757-1761
-
-
Figlewicz, D.A.1
Krizus, A.2
Martinoli, M.G.3
Meininger, V.4
Dib, M.5
Rouleau, G.A.6
-
106
-
-
0030000608
-
Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis
-
Rooke K., Figlewicz D.A., Han F.Y., and Rouleau G.A. Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis. Neurology 46 3 (1996) 789-790
-
(1996)
Neurology
, vol.46
, Issue.3
, pp. 789-790
-
-
Rooke, K.1
Figlewicz, D.A.2
Han, F.Y.3
Rouleau, G.A.4
-
107
-
-
0029970685
-
Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis
-
Vechio J.D., Bruijn L.I., Xu Z., Brown Jr. R.H., and Cleveland D.W. Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis. Ann. Neurol. 40 4 (1996) 603-610
-
(1996)
Ann. Neurol.
, vol.40
, Issue.4
, pp. 603-610
-
-
Vechio, J.D.1
Bruijn, L.I.2
Xu, Z.3
Brown Jr., R.H.4
Cleveland, D.W.5
-
108
-
-
5044244266
-
Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND)
-
Skvortsova V., Shadrina M., Slominsky P., Levitsky G., Kondratieva E., Zherebtsova A., et al. Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). Eur. J. Hum. Genet. 12 3 (2004) 241-244
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, Issue.3
, pp. 241-244
-
-
Skvortsova, V.1
Shadrina, M.2
Slominsky, P.3
Levitsky, G.4
Kondratieva, E.5
Zherebtsova, A.6
-
109
-
-
1942473714
-
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
-
Fabrizi G.M., Cavallaro T., Angiari C., Bertolasi L., Cabrini I., Ferrarini M., et al. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Neurology 62 8 (2004) 1429-1431
-
(2004)
Neurology
, vol.62
, Issue.8
, pp. 1429-1431
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
Bertolasi, L.4
Cabrini, I.5
Ferrarini, M.6
-
110
-
-
0036819173
-
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
-
Georgiou D.M., Zidar J., Korosec M., Middleton L.T., Kyriakides T., and Christodoulou K. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4 2 (2002) 93-96
-
(2002)
Neurogenetics
, vol.4
, Issue.2
, pp. 93-96
-
-
Georgiou, D.M.1
Zidar, J.2
Korosec, M.3
Middleton, L.T.4
Kyriakides, T.5
Christodoulou, K.6
-
111
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
Jordanova A., De Jonghe P., Boerkoel C.F., Takashima H., De Vriendt E., Ceuterick C., et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126 Pt 3 (2003) 590-597
-
(2003)
Brain
, vol.126
, Issue.PART 3
, pp. 590-597
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
Takashima, H.4
De Vriendt, E.5
Ceuterick, C.6
-
112
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova I.V., Perepelov A.V., Polyakov A.V., Sitnikov V.F., Dadali E.L., Oparin R.B., et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 67 1 (2000) 37-46
-
(2000)
Am. J. Hum. Genet.
, vol.67
, Issue.1
, pp. 37-46
-
-
Mersiyanova, I.V.1
Perepelov, A.V.2
Polyakov, A.V.3
Sitnikov, V.F.4
Dadali, E.L.5
Oparin, R.B.6
-
113
-
-
2942531080
-
Hereditary spastic paraplegia: spastin phenotype and function
-
Fink J.K., and Rainier S. Hereditary spastic paraplegia: spastin phenotype and function. Arch. Neurol. 61 6 (2004) 830-833
-
(2004)
Arch. Neurol.
, vol.61
, Issue.6
, pp. 830-833
-
-
Fink, J.K.1
Rainier, S.2
-
114
-
-
0032721512
-
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D., Artiguenave F., et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 23 3 (1999) 296-303
-
(1999)
Nat. Genet.
, vol.23
, Issue.3
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
Paternotte, C.4
Samson, D.5
Artiguenave, F.6
-
115
-
-
18444378149
-
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
-
Sauter S., Miterski B., Klimpe S., Bonsch D., Schols L., Visbeck A., et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum. Mutat. 20 2 (2002) 127-132
-
(2002)
Hum. Mutat.
, vol.20
, Issue.2
, pp. 127-132
-
-
Sauter, S.1
Miterski, B.2
Klimpe, S.3
Bonsch, D.4
Schols, L.5
Visbeck, A.6
-
116
-
-
0036483811
-
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
-
Meijer I.A., Hand C.K., Cossette P., Figlewicz D.A., Rouleau G.A., et al. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch. Neurol. 59 2 (2002) 281-286
-
(2002)
Arch. Neurol.
, vol.59
, Issue.2
, pp. 281-286
-
-
Meijer, I.A.1
Hand, C.K.2
Cossette, P.3
Figlewicz, D.A.4
Rouleau, G.A.5
-
117
-
-
28544451584
-
Spastin mutations in sporadic adult-onset upper motor neuron syndromes
-
Brugman F., Wokke J.H., Scheffer H., Versteeg M.H., Sistermans E.A., and van den Berg L.H. Spastin mutations in sporadic adult-onset upper motor neuron syndromes. Ann. Neurol. 58 6 (2005) 865-869
-
(2005)
Ann. Neurol.
, vol.58
, Issue.6
, pp. 865-869
-
-
Brugman, F.1
Wokke, J.H.2
Scheffer, H.3
Versteeg, M.H.4
Sistermans, E.A.5
van den Berg, L.H.6
-
118
-
-
33645114694
-
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases
-
Depienne C., Tallaksen C., Lephay J.Y., Bricka B., Poea-Guyon S., Fontaine B., et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases. J. Med. Genet. 43 3 (2005) 259-265
-
(2005)
J. Med. Genet.
, vol.43
, Issue.3
, pp. 259-265
-
-
Depienne, C.1
Tallaksen, C.2
Lephay, J.Y.3
Bricka, B.4
Poea-Guyon, S.5
Fontaine, B.6
-
119
-
-
0034163576
-
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
-
Fonknechten N., Mavel D., Byrne P., Davoine C.S., Cruaud C., Bonsch D., et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum. Mol. Genet. 9 4 (2000) 637-644
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.4
, pp. 637-644
-
-
Fonknechten, N.1
Mavel, D.2
Byrne, P.3
Davoine, C.S.4
Cruaud, C.5
Bonsch, D.6
-
120
-
-
0141609165
-
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class
-
Yip A.G., Durr A., Marchuk D.A., Ashley-Koch A., Hentati A., Rubinsztein D.C., et al. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J. Med. Genet. 40 9 (2003) e106
-
(2003)
J. Med. Genet.
, vol.40
, Issue.9
-
-
Yip, A.G.1
Durr, A.2
Marchuk, D.A.3
Ashley-Koch, A.4
Hentati, A.5
Rubinsztein, D.C.6
-
121
-
-
10844278272
-
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
-
Nielsen J.E., Johnsen B., Koefoed P., Scheuer K.H., Gronbech-Jensen M., Law I., et al. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur. J. Neurol. 11 12 (2004) 817-824
-
(2004)
Eur. J. Neurol.
, vol.11
, Issue.12
, pp. 817-824
-
-
Nielsen, J.E.1
Johnsen, B.2
Koefoed, P.3
Scheuer, K.H.4
Gronbech-Jensen, M.5
Law, I.6
-
122
-
-
24044524225
-
Spastin related hereditary spastic paraplegia with dysplastic corpus callosum
-
Alber B., Pernauer M., Schwan A., Rothmund G., Hoffmann K.T., Brummer D., et al. Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. J. Neurol. Sci. 236 1-2 (2005) 9-12
-
(2005)
J. Neurol. Sci.
, vol.236
, Issue.1-2
, pp. 9-12
-
-
Alber, B.1
Pernauer, M.2
Schwan, A.3
Rothmund, G.4
Hoffmann, K.T.5
Brummer, D.6
-
123
-
-
2942590954
-
Hereditary spastic paraplegia: clinical genetic study of 15 families
-
Orlacchio A., Kawarai T., Totaro A., Errico A., St George-Hyslop P.H., Rugarli E.I., et al. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch. Neurol. 61 6 (2004) 849-855
-
(2004)
Arch. Neurol.
, vol.61
, Issue.6
, pp. 849-855
-
-
Orlacchio, A.1
Kawarai, T.2
Totaro, A.3
Errico, A.4
St George-Hyslop, P.H.5
Rugarli, E.I.6
-
124
-
-
0343238487
-
Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p
-
Byrne P.C., Mc Monagle P., Webb S., Fitzgerald B., Parfrey N.A., and Hutchinson M. Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p. Neurology 54 7 (2000) 1510-1517
-
(2000)
Neurology
, vol.54
, Issue.7
, pp. 1510-1517
-
-
Byrne, P.C.1
Mc Monagle, P.2
Webb, S.3
Fitzgerald, B.4
Parfrey, N.A.5
Hutchinson, M.6
-
125
-
-
0031845205
-
Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance
-
Byrne P.C., Webb S., McSweeney F., Burke T., Hutchinson M., and Parfrey N.A. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. Eur. J. Hum. Genet. 6 3 (1998) 275-282
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, Issue.3
, pp. 275-282
-
-
Byrne, P.C.1
Webb, S.2
McSweeney, F.3
Burke, T.4
Hutchinson, M.5
Parfrey, N.A.6
-
126
-
-
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 3 (2004) 407-410
-
(2004)
Neurology
, vol.62
, Issue.3
, pp. 407-410
-
-
McMonagle, P.1
Byrne, P.2
Hutchinson, M.3
-
127
-
-
0032880071
-
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia
-
Reid E., Grayson C., Rubinsztein D.C., Rogers M.T., and Rubinsztein J.S. Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia. J. Med. Genet. 36 10 (1999) 797-798
-
(1999)
J. Med. Genet.
, vol.36
, Issue.10
, pp. 797-798
-
-
Reid, E.1
Grayson, C.2
Rubinsztein, D.C.3
Rogers, M.T.4
Rubinsztein, J.S.5
-
128
-
-
0242693281
-
The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
-
Wharton S.B., McDermott C.J., Grierson A.J., Wood J.D., Gelsthorpe C., Ince P.G., 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. 62 11 (2003) 1166-1177
-
(2003)
J. Neuropathol. Exp. Neurol.
, vol.62
, Issue.11
, pp. 1166-1177
-
-
Wharton, S.B.1
McDermott, C.J.2
Grierson, A.J.3
Wood, J.D.4
Gelsthorpe, C.5
Ince, P.G.6
-
129
-
-
0034641262
-
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation
-
White K.D., Ince P.G., Lusher M., Lindsey J., Cookson M., Bashir R., et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 55 1 (2000) 89-94
-
(2000)
Neurology
, vol.55
, Issue.1
, pp. 89-94
-
-
White, K.D.1
Ince, P.G.2
Lusher, M.3
Lindsey, J.4
Cookson, M.5
Bashir, R.6
-
130
-
-
0035006836
-
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
-
Svenson I.K., Ashley-Koch A.E., Gaskell P.C., Riney T.J., Cumming W.J., Kingston H.M., et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J. Hum. Genet. 68 5 (2001) 1077-1085
-
(2001)
Am J. Hum. Genet.
, vol.68
, Issue.5
, pp. 1077-1085
-
-
Svenson, I.K.1
Ashley-Koch, A.E.2
Gaskell, P.C.3
Riney, T.J.4
Cumming, W.J.5
Kingston, H.M.6
-
131
-
-
0035212228
-
A second leaky splice-site mutation in the spastin gene
-
Svenson I.K., Ashley-Koch A.E., Pericak-Vance M.A., and Marchuk D.A. A second leaky splice-site mutation in the spastin gene. Am J. Hum. Genet. 69 6 (2001) 1407-1409
-
(2001)
Am J. Hum. Genet.
, vol.69
, Issue.6
, pp. 1407-1409
-
-
Svenson, I.K.1
Ashley-Koch, A.E.2
Pericak-Vance, M.A.3
Marchuk, D.A.4
-
132
-
-
12344250580
-
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
-
Reid E., Connell J., Edwards T.L., Duley S., Brown S.E., and Sanderson C.M. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum. Mol. Genet. 14 1 (2005) 19-38
-
(2005)
Hum. Mol. Genet.
, vol.14
, Issue.1
, pp. 19-38
-
-
Reid, E.1
Connell, J.2
Edwards, T.L.3
Duley, S.4
Brown, S.E.5
Sanderson, C.M.6
-
133
-
-
0037231374
-
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus
-
Charvin D., Cifuentes-Diaz C., Fonknechten N., Joshi V., Hazan J., Melki J., et al. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum. Mol. Genet. 12 1 (2003) 71-78
-
(2003)
Hum. Mol. Genet.
, vol.12
, Issue.1
, pp. 71-78
-
-
Charvin, D.1
Cifuentes-Diaz, C.2
Fonknechten, N.3
Joshi, V.4
Hazan, J.5
Melki, J.6
-
134
-
-
2442584716
-
Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system
-
Beetz C., Brodhun M., Moutzouris K., Kiehntopf M., Berndt A., Lehnert D., et al. Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system. Biochem. Biophys. Res. Commun. 318 4 (2004) 1079-1084
-
(2004)
Biochem. Biophys. Res. Commun.
, vol.318
, Issue.4
, pp. 1079-1084
-
-
Beetz, C.1
Brodhun, M.2
Moutzouris, K.3
Kiehntopf, M.4
Berndt, A.5
Lehnert, D.6
-
135
-
-
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., and Rugarli E.I. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. Hum. Mol. Genet. 13 18 (2004) 2121-2132
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.18
, pp. 2121-2132
-
-
Errico, A.1
Claudiani, P.2
D'Addio, M.3
Rugarli, E.I.4
-
136
-
-
0027424297
-
Identification of katanin, an ATPase that severs and disassembles stable microtubules
-
McNally F.J., and Vale R.D. Identification of katanin, an ATPase that severs and disassembles stable microtubules. Cell 75 3 (1993) 419-429
-
(1993)
Cell
, vol.75
, Issue.3
, pp. 419-429
-
-
McNally, F.J.1
Vale, R.D.2
-
137
-
-
0344664376
-
Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation
-
McDermott C.J., Grierson A.J., Wood J.D., Bingley M., Wharton S.B., Bushby K.M., et al. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann. Neurol. 54 6 (2003) 748-759
-
(2003)
Ann. Neurol.
, vol.54
, Issue.6
, pp. 748-759
-
-
McDermott, C.J.1
Grierson, A.J.2
Wood, J.D.3
Bingley, M.4
Wharton, S.B.5
Bushby, K.M.6
-
138
-
-
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 2 (2002) 153-163
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.2
, pp. 153-163
-
-
Errico, A.1
Ballabio, A.2
Rugarli, E.I.3
-
139
-
-
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 4 (2005) 599-606
-
(2005)
J. Cell Biol.
, vol.168
, Issue.4
, pp. 599-606
-
-
Evans, K.J.1
Gomes, E.R.2
Reisenweber, S.M.3
Gundersen, G.G.4
Lauring, B.P.5
-
140
-
-
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 13 (2004) 1135-1147
-
(2004)
Curr. Biol.
, vol.14
, Issue.13
, pp. 1135-1147
-
-
Trotta, N.1
Orso, G.2
Rossetto, M.G.3
Daga, A.4
Broadie, K.5
-
141
-
-
0035184654
-
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
-
Zhao X., Alvarado D., Rainier S., Lemons R., Hedera P., Weber C.H., et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat. Genet. 29 3 (2001) 326-331
-
(2001)
Nat. Genet.
, vol.29
, Issue.3
, pp. 326-331
-
-
Zhao, X.1
Alvarado, D.2
Rainier, S.3
Lemons, R.4
Hedera, P.5
Weber, C.H.6
-
142
-
-
10044286171
-
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
-
Durr A., Camuzat A., Colin E., Tallaksen C., Hannequin D., Coutinho P., et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch. Neurol. 61 12 (2004) 1867-1872
-
(2004)
Arch. Neurol.
, vol.61
, Issue.12
, pp. 1867-1872
-
-
Durr, A.1
Camuzat, A.2
Colin, E.3
Tallaksen, C.4
Hannequin, D.5
Coutinho, P.6
-
143
-
-
19944433320
-
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
-
Abel A., Fonknechten N., Hofer A., Durr A., Cruaud C., Voit T., et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5 4 (2004) 239-243
-
(2004)
Neurogenetics
, vol.5
, Issue.4
, pp. 239-243
-
-
Abel, A.1
Fonknechten, N.2
Hofer, A.3
Durr, A.4
Cruaud, C.5
Voit, T.6
-
144
-
-
0242523160
-
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia
-
Wilkinson P.A., Hart P.E., Patel H., Warner T.T., and Crosby A.H. SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J. Neurol. Sci. 216 1 (2003) 43-45
-
(2003)
J. Neurol. Sci.
, vol.216
, Issue.1
, pp. 43-45
-
-
Wilkinson, P.A.1
Hart, P.E.2
Patel, H.3
Warner, T.T.4
Crosby, A.H.5
-
145
-
-
2942564556
-
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene
-
D'Amico A., Tessa A., Sabino A., Bertini E., Santorelli F.M., and Servidei S. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 62 11 (2004) 2138-2139
-
(2004)
Neurology
, vol.62
, Issue.11
, pp. 2138-2139
-
-
D'Amico, A.1
Tessa, A.2
Sabino, A.3
Bertini, E.4
Santorelli, F.M.5
Servidei, S.6
-
146
-
-
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 S.M., Engel W., Neumann L.M., Kunze J., and Neesen J. 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. 23 1 (2004) 98
-
(2004)
Hum. Mutat.
, vol.23
, Issue.1
, pp. 98
-
-
Sauter, S.M.1
Engel, W.2
Neumann, L.M.3
Kunze, J.4
Neesen, J.5
-
147
-
-
23944446679
-
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
-
Scarano V., Mancini P., Criscuolo C., De Michele G., Rinaldi C., Tucci T., et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J. Neurol. 252 8 (2005) 901-903
-
(2005)
J. Neurol.
, vol.252
, Issue.8
, pp. 901-903
-
-
Scarano, V.1
Mancini, P.2
Criscuolo, C.3
De Michele, G.4
Rinaldi, C.5
Tucci, T.6
-
148
-
-
0037168428
-
SPG3A: an additional family carrying a new atlastin mutation
-
Tessa A., Casali C., Damiano M., Bruno C., Fortini D., Patrono C., et al. SPG3A: an additional family carrying a new atlastin mutation. Neurology 59 12 (2002) 2002-2005
-
(2002)
Neurology
, vol.59
, Issue.12
, pp. 2002-2005
-
-
Tessa, A.1
Casali, C.2
Damiano, M.3
Bruno, C.4
Fortini, D.5
Patrono, C.6
-
149
-
-
0041429541
-
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
-
Dalpozzo F., Rossetto M.G., Boaretto F., Sartori E., Mostacciuolo M.L., Daga A., et al. Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. Neurology 61 4 (2003) 580-581
-
(2003)
Neurology
, vol.61
, Issue.4
, pp. 580-581
-
-
Dalpozzo, F.1
Rossetto, M.G.2
Boaretto, F.3
Sartori, E.4
Mostacciuolo, M.L.5
Daga, A.6
-
150
-
-
5344275885
-
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
-
Hedera P., Fenichel G.M., Blair M., and Haines J.L. Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Arch. Neurol. 61 10 (2004) 1600-1603
-
(2004)
Arch. Neurol.
, vol.61
, Issue.10
, pp. 1600-1603
-
-
Hedera, P.1
Fenichel, G.M.2
Blair, M.3
Haines, J.L.4
-
151
-
-
0036260824
-
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
-
Muglia M., Magariello A., Nicoletti G., Patitucci A., Gabriele A.L., Conforti F.L., et al. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann. Neurol. 51 6 (2002) 794-795
-
(2002)
Ann. Neurol.
, vol.51
, Issue.6
, pp. 794-795
-
-
Muglia, M.1
Magariello, A.2
Nicoletti, G.3
Patitucci, A.4
Gabriele, A.L.5
Conforti, F.L.6
-
152
-
-
0742281520
-
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin
-
Zhu P.P., Patterson A., Lavoie B., Stadler J., Shoeb M., Patel R., et al. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J. Biol. Chem. 278 49 (2003) 49063-49071
-
(2003)
J. Biol. Chem.
, vol.278
, Issue.49
, pp. 49063-49071
-
-
Zhu, P.P.1
Patterson, A.2
Lavoie, B.3
Stadler, J.4
Shoeb, M.5
Patel, R.6
-
153
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
Zuchner S., Noureddine M., Kennerson M., Verhoeven K., Claeys K., De Jonghe P., et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat. Genet. 37 3 (2005) 289-294
-
(2005)
Nat. Genet.
, vol.37
, Issue.3
, pp. 289-294
-
-
Zuchner, S.1
Noureddine, M.2
Kennerson, M.3
Verhoeven, K.4
Claeys, K.5
De Jonghe, P.6
-
154
-
-
0032231934
-
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
-
De Michele G., De Fusco M., Cavalcanti F., Filla A., Marconi R., Volpe G., et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am. J. Hum. Genet. 63 1 (1998) 135-139
-
(1998)
Am. J. Hum. Genet.
, vol.63
, Issue.1
, pp. 135-139
-
-
De Michele, G.1
De Fusco, M.2
Cavalcanti, F.3
Filla, A.4
Marconi, R.5
Volpe, G.6
-
155
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93 6 (1998) 973-983
-
(1998)
Cell
, vol.93
, Issue.6
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernandez, P.6
-
156
-
-
0035957066
-
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
-
McDermott C.J., Dayaratne R.K., Tomkins J., Lusher M.E., Lindsey J.C., Johnson M.A., et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 56 4 (2001) 467-471
-
(2001)
Neurology
, vol.56
, Issue.4
, pp. 467-471
-
-
McDermott, C.J.1
Dayaratne, R.K.2
Tomkins, J.3
Lusher, M.E.4
Lindsey, J.C.5
Johnson, M.A.6
-
157
-
-
2442542546
-
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
-
Wilkinson P.A., Crosby A.H., Turner C., Bradley L.J., Ginsberg L., Wood N.W., et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 127 Pt 5 (2004) 973-980
-
(2004)
Brain
, vol.127
, Issue.PART 5
, pp. 973-980
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
Bradley, L.J.4
Ginsberg, L.5
Wood, N.W.6
-
158
-
-
0034874791
-
AAA proteases of mitochondria: quality control of membrane proteins and regulatory functions during mitochondrial biogenesis
-
Langer T., Kaser M., Klanner C., and Leonhard K. AAA proteases of mitochondria: quality control of membrane proteins and regulatory functions during mitochondrial biogenesis. Biochem. Soc. Trans. 29 Pt 4 (2001) 431-436
-
(2001)
Biochem. Soc. Trans.
, vol.29
, Issue.PART 4
, pp. 431-436
-
-
Langer, T.1
Kaser, M.2
Klanner, C.3
Leonhard, K.4
-
159
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F., Quattrini A., Pirozzi M., Valsecchi V., Dina G., Broccoli V., et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J. Clin. Invest. 113 2 (2004) 231-242
-
(2004)
J. Clin. Invest.
, vol.113
, Issue.2
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirozzi, M.3
Valsecchi, V.4
Dina, G.5
Broccoli, V.6
-
160
-
-
0033912567
-
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
-
Fontaine B., Davoine C.S., Durr A., Paternotte C., Feki I., Weissenbach J., et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am. J. Hum. Genet. 66 2 (2000) 702-707
-
(2000)
Am. J. Hum. Genet.
, vol.66
, Issue.2
, pp. 702-707
-
-
Fontaine, B.1
Davoine, C.S.2
Durr, A.3
Paternotte, C.4
Feki, I.5
Weissenbach, J.6
-
161
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
-
Hansen J.J., Durr A., Cournu-Rebeix I., Georgopoulos C., Ang D., Nielsen M.N., et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. 70 5 (2002) 1328-1332
-
(2002)
Am. J. Hum. Genet.
, vol.70
, Issue.5
, pp. 1328-1332
-
-
Hansen, J.J.1
Durr, A.2
Cournu-Rebeix, I.3
Georgopoulos, C.4
Ang, D.5
Nielsen, M.N.6
-
162
-
-
0034279183
-
KIF5C, a novel neuronal kinesin enriched in motor neurons
-
Kanai Y., Okada Y., Tanaka Y., Harada A., Terada S., and Hirokawa N. KIF5C, a novel neuronal kinesin enriched in motor neurons. J. Neurosci. 20 17 (2000) 6374-6384
-
(2000)
J. Neurosci.
, vol.20
, Issue.17
, pp. 6374-6384
-
-
Kanai, Y.1
Okada, Y.2
Tanaka, Y.3
Harada, A.4
Terada, S.5
Hirokawa, N.6
-
163
-
-
33644657709
-
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
-
Blair M.A., Ma S., and Hedera P. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics 7 1 (2006) 47-50
-
(2006)
Neurogenetics
, vol.7
, Issue.1
, pp. 47-50
-
-
Blair, M.A.1
Ma, S.2
Hedera, P.3
-
164
-
-
4644258352
-
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
-
Fichera M., Lo Giudice M., Falco M., Sturnio M., Amata S., Calabrese O., et al. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 63 6 (2004) 1108-1110
-
(2004)
Neurology
, vol.63
, Issue.6
, pp. 1108-1110
-
-
Fichera, M.1
Lo Giudice, M.2
Falco, M.3
Sturnio, M.4
Amata, S.5
Calabrese, O.6
-
165
-
-
32944472875
-
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia
-
Lo Giudice M., Neri M., Falco M., Sturnio M., Calzolari E., Di Benedetto D., et al. A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch. Neurol. 63 2 (2006) 284-287
-
(2006)
Arch. Neurol.
, vol.63
, Issue.2
, pp. 284-287
-
-
Lo Giudice, M.1
Neri, M.2
Falco, M.3
Sturnio, M.4
Calzolari, E.5
Di Benedetto, D.6
-
166
-
-
18644365196
-
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
-
Reid E., Kloos M., Ashley-Koch A., Hughes L., Bevan S., Svenson I.K., et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71 5 (2002) 1189-1194
-
(2002)
Am. J. Hum. Genet.
, vol.71
, Issue.5
, pp. 1189-1194
-
-
Reid, E.1
Kloos, M.2
Ashley-Koch, A.3
Hughes, L.4
Bevan, S.5
Svenson, I.K.6
-
167
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta
-
Zhao C., Takita J., Tanaka Y., Setou M., Nakagawa T., Takeda S., et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105 5 (2001) 587-597
-
(2001)
Cell
, vol.105
, Issue.5
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
Setou, M.4
Nakagawa, T.5
Takeda, S.6
-
168
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Zuchner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36 5 (2004) 449-451
-
(2004)
Nat. Genet.
, vol.36
, Issue.5
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
-
169
-
-
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., Xu P., Huang W., Zhou Y., 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. 25 2 (2005) 135-141
-
(2005)
Hum. Mutat.
, vol.25
, Issue.2
, pp. 135-141
-
-
Chen, S.1
Song, C.2
Guo, H.3
Xu, P.4
Huang, W.5
Zhou, Y.6
-
170
-
-
33644955275
-
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)
-
Munhoz R.P., Kawarai T., Teive H.A., Raskin S., Sato C., Liang Y., et al. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Mov. Disord. 21 2 (2005) 279-281
-
(2005)
Mov. Disord.
, vol.21
, Issue.2
, pp. 279-281
-
-
Munhoz, R.P.1
Kawarai, T.2
Teive, H.A.3
Raskin, S.4
Sato, C.5
Liang, Y.6
-
171
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier S., Chai J.H., Tokarz D., Nicholls R.D., and Fink J.K. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 73 4 (2003) 967-971
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.4
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.3
Nicholls, R.D.4
Fink, J.K.5
-
172
-
-
20044364199
-
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
-
Reed J.A., Wilkinson P.A., Patel H., Simpson M.A., Chatonnet A., Robay D., et al. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 6 2 (2005) 79-84
-
(2005)
Neurogenetics
, vol.6
, Issue.2
, pp. 79-84
-
-
Reed, J.A.1
Wilkinson, P.A.2
Patel, H.3
Simpson, M.A.4
Chatonnet, A.5
Robay, D.6
-
173
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
Skibinski G., Parkinson N.J., Brown J.M., Chakrabarti L., Lloyd S.L., Hummerich H., et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat. Genet. 37 8 (2005) 806-808
-
(2005)
Nat. Genet.
, vol.37
, Issue.8
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
Hummerich, H.6
-
174
-
-
27644469489
-
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse
-
Schmitt-John T., Drepper C., Mussmann A., Hahn P., Kuhlmann M., Thiel C., et al. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat. Genet. 37 11 (2005) 1213-1215
-
(2005)
Nat. Genet.
, vol.37
, Issue.11
, pp. 1213-1215
-
-
Schmitt-John, T.1
Drepper, C.2
Mussmann, A.3
Hahn, P.4
Kuhlmann, M.5
Thiel, C.6
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