-
1
-
-
0032926368
-
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
-
A. Al-Chalabi, P.M. Andersen, P. Nilsson, B. Chioza, J.L. Andersson, C. Russ, C.E. Shaw, J.F. Powell, and P.N. Leigh Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis Hum. Mol. Genet. 8 1999 157 164
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 157-164
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Nilsson, P.3
Chioza, B.4
Andersson, J.L.5
Russ, C.6
Shaw, C.E.7
Powell, J.F.8
Leigh, P.N.9
-
2
-
-
0033230327
-
Late onset death of motor neurons in mice overexpressing wild-type peripherin
-
J.M. Beaulieu, M.D. Nguyen, and J.P. Julien Late onset death of motor neurons in mice overexpressing wild-type peripherin J. Cell Biol. 147 1999 531 544
-
(1999)
J. Cell Biol.
, vol.147
, pp. 531-544
-
-
Beaulieu, J.M.1
Nguyen, M.D.2
Julien, J.P.3
-
3
-
-
0034279413
-
A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34
-
I.P. Blair, C.L. Bennett, A. Abel, B.A. Rabin, J.W. Griffin, K.H. Fischbeck, D.R. Cornblath, and P.F. Chance A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34 Neurogenetics 3 2000 1 6
-
(2000)
Neurogenetics
, vol.3
, pp. 1-6
-
-
Blair, I.P.1
Bennett, C.L.2
Abel, A.3
Rabin, B.A.4
Griffin, J.W.5
Fischbeck, K.H.6
Cornblath, D.R.7
Chance, P.F.8
-
4
-
-
0036849511
-
Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport
-
J. Brownlees, S. Ackerley, A.J. Grierson, N.J. Jacobsen, K. Shea, B.H. Anderton, P.N. Leigh, C.E. Shaw, and C.C. Miller Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport Hum. Mol. Genet. 11 2002 2837 2844
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2837-2844
-
-
Brownlees, J.1
Ackerley, S.2
Grierson, A.J.3
Jacobsen, N.J.4
Shea, K.5
Anderton, B.H.6
Leigh, P.N.7
Shaw, C.E.8
Miller, C.C.9
-
5
-
-
0014336826
-
Proximal axonal enlargement in motor neuron disease
-
S. Carpenter Proximal axonal enlargement in motor neuron disease Neurology 18 1968 841 851
-
(1968)
Neurology
, vol.18
, pp. 841-851
-
-
Carpenter, S.1
-
6
-
-
0033677861
-
The C-terminal tail domain of neurofilament protein-H (NF-H) forms the crossbridges and regulates neurofilament bundle formation
-
J. Chen, T. Nakata, Z. Zhang, and N. Hirokawa The C-terminal tail domain of neurofilament protein-H (NF-H) forms the crossbridges and regulates neurofilament bundle formation J. Cell Sci. 113 Pt. 21 2000 3861 3869
-
(2000)
J. Cell Sci.
, vol.113
, Issue.21 PART
, pp. 3861-3869
-
-
Chen, J.1
Nakata, T.2
Zhang, Z.3
Hirokawa, N.4
-
7
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Y.Z. Chen, C.L. Bennett, H.M. Huynh, I.P. Blair, I. Puls, J. Irobi, I. Dierick, A. Abel, M.L. Kennerson, and B.A. Rabin DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am. J. Hum. Genet. 74 2004 1128 1135
-
(2004)
Am. J. Hum. Genet.
, vol.74
, 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
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
-
8
-
-
0027220073
-
Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments
-
G.Y. Ching, and R.K. Liem Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments J. Cell Biol. 122 1993 1323 1335
-
(1993)
J. Cell Biol.
, vol.122
, pp. 1323-1335
-
-
Ching, G.Y.1
Liem, R.K.2
-
9
-
-
0027465098
-
Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis
-
F. Cote, J.F. Collard, and J.P. Julien Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis Cell 73 1993 35 46
-
(1993)
Cell
, vol.73
, pp. 35-46
-
-
Cote, F.1
Collard, J.F.2
Julien, J.P.3
-
10
-
-
0032483016
-
Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase
-
S. Couillard-Despres, Q. Zhu, P.C. Wong, D.L. Price, D.W. Cleveland, and J.P. Julien Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase Proc. Natl. Acad. Sci. U. S. A. 95 1998 9626 9630
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 9626-9630
-
-
Couillard-Despres, S.1
Zhu, Q.2
Wong, P.C.3
Price, D.L.4
Cleveland, D.W.5
Julien, J.P.6
-
11
-
-
0033830020
-
Extra axonal neurofilaments do not exacerbate disease caused by mutant Cu,Zn superoxide dismutase
-
S. Couillard-Despres, J. Meier, and J.P. Julien Extra axonal neurofilaments do not exacerbate disease caused by mutant Cu,Zn superoxide dismutase Neurobiol. Dis. 7 2000 462 470
-
(2000)
Neurobiol. Dis.
, vol.7
, pp. 462-470
-
-
Couillard-Despres, S.1
Meier, J.2
Julien, J.P.3
-
12
-
-
0035136847
-
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
-
P. De Jonghe, I. Mersivanova, E. Nelis, J. Del Favero, J.J. Martin, C. Van Broeckhoven, O. Evgrafov, and V. Timmerman Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E Ann. Neurol. 49 2001 245 249
-
(2001)
Ann. Neurol.
, vol.49
, pp. 245-249
-
-
De Jonghe, P.1
Mersivanova, I.2
Nelis, E.3
Del Favero, J.4
Martin, J.J.5
Van Broeckhoven, C.6
Evgrafov, O.7
Timmerman, V.8
-
13
-
-
0032484934
-
Pathogenesis of two axonopathies does not require axonal neurofilaments
-
J. Eyer, D.W. Cleveland, P.C. Wong, and A.C. Peterson Pathogenesis of two axonopathies does not require axonal neurofilaments Nature 391 1998 584 587
-
(1998)
Nature
, vol.391
, pp. 584-587
-
-
Eyer, J.1
Cleveland, D.W.2
Wong, P.C.3
Peterson, A.C.4
-
14
-
-
0028001606
-
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
D.A. Figlewicz, A. Krizus, M.G. Martinoli, V. Meininger, M. Dib, G.A. Rouleau, and J.P. Julien Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis Hum. Mol. Genet. 3 1994 1757 1761
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1757-1761
-
-
Figlewicz, D.A.1
Krizus, A.2
Martinoli, M.G.3
Meininger, V.4
Dib, M.5
Rouleau, G.A.6
Julien, J.P.7
-
15
-
-
10744228738
-
NF-M is an essential target for the myelin-directed "outside- in" signaling cascade that mediates radial axonal growth
-
M.L. Garcia, C.S. Lobsiger, S.B. Shah, T.J. Deerinck, J. Crum, D. Young, C.M. Ward, T.O. Crawford, T. Gotow, and Y. Uchiyama NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth J. Cell Biol. 163 2003 1011 1020
-
(2003)
J. Cell Biol.
, vol.163
, pp. 1011-1020
-
-
Garcia, M.L.1
Lobsiger, C.S.2
Shah, S.B.3
Deerinck, T.J.4
Crum, J.5
Young, D.6
Ward, C.M.7
Crawford, T.O.8
Gotow, T.9
Uchiyama, Y.10
-
16
-
-
0036819173
-
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
-
D.M. Georgiou, J. Zidar, M. Korosec, L.T. Middleton, T. Kyriakides, and K. Christodoulou A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family Neurogenetics 4 2002 93 96
-
(2002)
Neurogenetics
, vol.4
, pp. 93-96
-
-
Georgiou, D.M.1
Zidar, J.2
Korosec, M.3
Middleton, L.T.4
Kyriakides, T.5
Christodoulou, K.6
-
17
-
-
8544222694
-
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis
-
F. Gros-Louis, R. Lariviere, G. Gowing, S. Laurent, W. Camu, J.P. Bouchard, V. Meininger, G.A. Rouleau, and J.P. Julien A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis J. Biol. Chem. 279 2004 45951 45956
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 45951-45956
-
-
Gros-Louis, F.1
Lariviere, R.2
Gowing, G.3
Laurent, S.4
Camu, W.5
Bouchard, J.P.6
Meininger, V.7
Rouleau, G.A.8
Julien, J.P.9
-
18
-
-
0026042995
-
Cytopathology of amyotrophic lateral sclerosis
-
A. Hirano Cytopathology of amyotrophic lateral sclerosis Adv. Neurol. 56 1991 91 101
-
(1991)
Adv. Neurol.
, vol.56
, pp. 91-101
-
-
Hirano, A.1
-
19
-
-
0021167918
-
Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis
-
A. Hirano, H. Donnenfeld, S. Sasaki, and I. Nakano Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis J. Neuropathol. Exp. Neurol. 43 1984 461 470
-
(1984)
J. Neuropathol. Exp. Neurol.
, vol.43
, pp. 461-470
-
-
Hirano, A.1
Donnenfeld, H.2
Sasaki, S.3
Nakano, I.4
-
20
-
-
0021157469
-
Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis
-
A. Hirano, I. Nakano, L.T. Kurland, D.W. Mulder, P.W. Holley, and G. Saccomanno Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis J. Neuropathol. Exp. Neurol. 43 1984 471 480
-
(1984)
J. Neuropathol. Exp. Neurol.
, vol.43
, pp. 471-480
-
-
Hirano, A.1
Nakano, I.2
Kurland, L.T.3
Mulder, D.W.4
Holley, P.W.5
Saccomanno, G.6
-
21
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
A. Jordanova, P. De Jonghe, C.F. Boerkoel, H. Takashima, E. De Vriendt, C. Ceuterick, J.J. Martin, I.J. Butler, P. Mancias, and S. Papasozomenos Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease Brain 126 2003 590 597
-
(2003)
Brain
, vol.126
, pp. 590-597
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
Takashima, H.4
De Vriendt, E.5
Ceuterick, C.6
Martin, J.J.7
Butler, I.J.8
Mancias, P.9
Papasozomenos, S.10
-
22
-
-
0033953140
-
Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis
-
J. Kong, and Z. Xu Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis Neurosci. Lett. 281 2000 72 74
-
(2000)
Neurosci. Lett.
, vol.281
, pp. 72-74
-
-
Kong, J.1
Xu, Z.2
-
24
-
-
0038386845
-
Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase
-
R.C. Lariviere, J.M. Beaulieu, M.D. Nguyen, and J.P. Julien Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase Neurobiol. Dis. 13 2003 158 166
-
(2003)
Neurobiol. Dis.
, vol.13
, pp. 158-166
-
-
Lariviere, R.C.1
Beaulieu, J.M.2
Nguyen, M.D.3
Julien, J.P.4
-
25
-
-
0027293898
-
Neurofilaments are obligate heteropolymers in vivo
-
M.K. Lee, Z. Xu, P.C. Wong, and D.W. Cleveland Neurofilaments are obligate heteropolymers in vivo J. Cell Biol. 122 1993 1337 1350
-
(1993)
J. Cell Biol.
, vol.122
, pp. 1337-1350
-
-
Lee, M.K.1
Xu, Z.2
Wong, P.C.3
Cleveland, D.W.4
-
26
-
-
0028116467
-
A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
-
M.K. Lee, J.R. Marszalek, and D.W. Cleveland A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease Neuron 13 1994 975 988
-
(1994)
Neuron
, vol.13
, pp. 975-988
-
-
Lee, M.K.1
Marszalek, J.R.2
Cleveland, D.W.3
-
27
-
-
4143140690
-
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis
-
C.L. Leung, C.Z. He, P. Kaufmann, S.S. Chin, A. Naini, R.K. Liem, H. Mitsumoto, and A.P. Hays A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis Brain Pathol. 14 2004 290 296
-
(2004)
Brain Pathol.
, vol.14
, pp. 290-296
-
-
Leung, C.L.1
He, C.Z.2
Kaufmann, P.3
Chin, S.S.4
Naini, A.5
Liem, R.K.6
Mitsumoto, H.7
Hays, A.P.8
-
28
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
I.V. Mersiyanova, A.V. Perepelov, A.V. Polyakov, V.F. Sitnikov, E.L. Dadali, R.B. Oparin, A.N. Petrin, and O.V. Evgrafov 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 2000 37 46
-
(2000)
Am. J. Hum. Genet.
, vol.67
, 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
Petrin, A.N.7
Evgrafov, O.V.8
-
29
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
M.C. Moreira, S. Klur, M. Watanabe, A.H. Nemeth, I. Le Ber, J.C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, and L. Schols Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Nat. Genet. 36 2004 225 227
-
(2004)
Nat. Genet.
, vol.36
, 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
Tranchant, C.7
Aubourg, P.8
Tazir, M.9
Schols, L.10
-
30
-
-
0034710986
-
Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1
-
M.D. Nguyen, R.C. Lariviere, and J.P. Julien Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1 Proc. Natl. Acad. Sci. U. S. A. 97 2000 12306 12311
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 12306-12311
-
-
Nguyen, M.D.1
Lariviere, R.C.2
Julien, J.P.3
-
31
-
-
17744368458
-
Deregulation of Cdk5 in a mouse model of ALS: Toxicity alleviated by perikaryal neurofilament inclusions
-
M.D. Nguyen, R.C. Lariviere, and J.P. Julien Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions Neuron 30 2001 135 147
-
(2001)
Neuron
, vol.30
, pp. 135-147
-
-
Nguyen, M.D.1
Lariviere, R.C.2
Julien, J.P.3
-
32
-
-
0030872838
-
PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
-
D.A. Nickerson, V.O. Tobe, and S.L. Taylor PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing Nucleic Acids Res. 25 1997 2745 2751
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 2745-2751
-
-
Nickerson, D.A.1
Tobe, V.O.2
Taylor, S.L.3
-
33
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
A.L. Nishimura, M. Mitne-Neto, H.C. Silva, A. Richieri-Costa, S. Middleton, D. Cascio, F. Kok, J.R. Oliveira, T. Gillingwater, and J. Webb A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis Am. J. Hum. Genet. 75 2004 822 831
-
(2004)
Am. J. Hum. Genet.
, vol.75
, 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
Kok, F.7
Oliveira, J.R.8
Gillingwater, T.9
Webb, J.10
-
34
-
-
0027530064
-
Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene
-
O. Ohara, Y. Gahara, T. Miyake, H. Teraoka, and T. Kitamura Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene J. Cell Biol. 121 1993 387 395
-
(1993)
J. Cell Biol.
, vol.121
, pp. 387-395
-
-
Ohara, O.1
Gahara, Y.2
Miyake, T.3
Teraoka, H.4
Kitamura, T.5
-
35
-
-
0037115722
-
Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation
-
R. Perez-Olle, C.L. Leung, and R.K. Liem Effects of Charcot-Marie-Tooth- linked mutations of the neurofilament light subunit on intermediate filament formation J. Cell Sci. 115 2002 4937 4946
-
(2002)
J. Cell Sci.
, vol.115
, pp. 4937-4946
-
-
Perez-Olle, R.1
Leung, C.L.2
Liem, R.K.3
-
36
-
-
5444267945
-
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
-
R. Perez-Olle, S.T. Jones, and R.K. Liem Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models Hum. Mol. Genet. 13 2004 2207 2220
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2207-2220
-
-
Perez-Olle, R.1
Jones, S.T.2
Liem, R.K.3
-
37
-
-
18844446126
-
Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport
-
R. Perez-Olle, M.A. Lopez-Toledano, D. Goryunov, N. Cabrera-Poch, L. Stefanis, K. Brown, and R.K. Liem Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport J. Neurochem. 93 2005 861 874
-
(2005)
J. Neurochem.
, vol.93
, pp. 861-874
-
-
Perez-Olle, R.1
Lopez-Toledano, M.A.2
Goryunov, D.3
Cabrera-Poch, N.4
Stefanis, L.5
Brown, K.6
Liem, R.K.7
-
38
-
-
0037135978
-
Gene replacement in mice reveals that the heavily phosphorylated tail of neurofilament heavy subunit does not affect axonal caliber or the transit of cargoes in slow axonal transport
-
M.V. Rao, M.L. Garcia, Y. Miyazaki, T. Gotow, A. Yaun, S. Mattina, C.M. Ward, N.A. Calcutt, Y. Uchiyama, R.A. Nixon, and D.W. Cleveland Gene replacement in mice reveals that the heavily phosphorylated tail of neurofilament heavy subunit does not affect axonal caliber or the transit of cargoes in slow axonal transport J. Cell Biol. 158 2002 681 693
-
(2002)
J. Cell Biol.
, vol.158
, pp. 681-693
-
-
Rao, M.V.1
Garcia, M.L.2
Miyazaki, Y.3
Gotow, T.4
Yaun, A.5
Mattina, S.6
Ward, C.M.7
Calcutt, N.A.8
Uchiyama, Y.9
Nixon, R.A.10
Cleveland, D.W.11
-
39
-
-
0345237912
-
A neurotoxic peripherin splice variant in a mouse model of ALS
-
J. Robertson, M.M. Doroudchi, M.D. Nguyen, H.D. Durham, M.J. Strong, G. Shaw, J.P. Julien, and W.E. Mushynski A neurotoxic peripherin splice variant in a mouse model of ALS J. Cell Biol. 160 2003 939 949
-
(2003)
J. Cell Biol.
, vol.160
, pp. 939-949
-
-
Robertson, J.1
Doroudchi, M.M.2
Nguyen, M.D.3
Durham, H.D.4
Strong, M.J.5
Shaw, G.6
Julien, J.P.7
Mushynski, W.E.8
-
40
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
D.R. Rosen, T. Siddique, D. Patterson, D.A. Figlewicz, P. Sapp, A. Hentati, D. Donaldson, J. Goto, J.P. O'Regan, and H.X. Deng Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis Nature 362 1993 59 62
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
Hentati, A.6
Donaldson, D.7
Goto, J.8
O'Regan, J.P.9
Deng, H.X.10
-
41
-
-
0032427646
-
Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)
-
J. Tomkins, P. Usher, J.Y. Slade, P.G. Ince, A. Curtis, K. Bushby, and P.J. Shaw Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS) NeuroReport 9 1998 3967 3970
-
(1998)
NeuroReport
, vol.9
, pp. 3967-3970
-
-
Tomkins, J.1
Usher, P.2
Slade, J.Y.3
Ince, P.G.4
Curtis, A.5
Bushby, K.6
Shaw, P.J.7
-
42
-
-
0029970685
-
Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis
-
J.D. Vechio, L.I. Bruijn, Z. Xu, R.H. Brown Jr., and D.W. Cleveland Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis Ann. Neurol. 40 1996 603 610
-
(1996)
Ann. Neurol.
, vol.40
, pp. 603-610
-
-
Vechio, J.D.1
Bruijn, L.I.2
Xu, Z.3
Brown Jr., R.H.4
Cleveland, D.W.5
-
43
-
-
0028004013
-
Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1
-
D.F. Watson, F.N. Nachtman, R.W. Kuncl, and J.W. Griffin Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1 Neurology 44 1994 2383 2387
-
(1994)
Neurology
, vol.44
, pp. 2383-2387
-
-
Watson, D.F.1
Nachtman, F.N.2
Kuncl, R.W.3
Griffin, J.W.4
-
44
-
-
0032482976
-
Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant
-
T.L. Williamson, L.I. Bruijn, Q. Zhu, K.L. Anderson, S.D. Anderson, J.P. Julien, and D.W. Cleveland Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant Proc. Natl. Acad. Sci. U. S. A. 95 1998 9631 9636
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 9631-9636
-
-
Williamson, T.L.1
Bruijn, L.I.2
Zhu, Q.3
Anderson, K.L.4
Anderson, S.D.5
Julien, J.P.6
Cleveland, D.W.7
-
45
-
-
0027410516
-
Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease
-
Z. Xu, L.C. Cork, J.W. Griffin, and D.W. Cleveland Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease Cell 73 1993 23 33
-
(1993)
Cell
, vol.73
, pp. 23-33
-
-
Xu, Z.1
Cork, L.C.2
Griffin, J.W.3
Cleveland, D.W.4
-
46
-
-
0029894157
-
Subunit composition of neurofilaments specifies axonal diameter
-
Z. Xu, J.R. Marszalek, M.K. Lee, P.C. Wong, J. Folmer, T.O. Crawford, S.T. Hsieh, J.W. Griffin, and D.W. Cleveland Subunit composition of neurofilaments specifies axonal diameter J. Cell Biol. 133 1996 1061 1069
-
(1996)
J. Cell Biol.
, vol.133
, pp. 1061-1069
-
-
Xu, Z.1
Marszalek, J.R.2
Lee, M.K.3
Wong, P.C.4
Folmer, J.5
Crawford, T.O.6
Hsieh, S.T.7
Griffin, J.W.8
Cleveland, D.W.9
-
47
-
-
1542350078
-
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan
-
M. Yamamoto, T. Yoshihara, N. Hattori, and G. Sobue Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan Neurogenetics 5 2004 75 77
-
(2004)
Neurogenetics
, vol.5
, pp. 75-77
-
-
Yamamoto, M.1
Yoshihara, T.2
Hattori, N.3
Sobue, G.4
-
48
-
-
0346734108
-
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
-
K. Yamanaka, C. Vande Velde, E. Eymard-Pierre, E. Bertini, O. Boespflug-Tanguy, and D.W. Cleveland Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease Proc. Natl. Acad. Sci. U. S. A. 100 2003 16041 16046
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, 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
-
49
-
-
0036900365
-
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: Analysis of Charcot-Marie-Tooth disease patients and normal individuals
-
T. Yoshihara, M. Yamamoto, N. Hattori, K. Misu, K. Mori, H. Koike, and G. Sobue Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals J. Peripher. Nerv. Syst. 7 2002 221 224
-
(2002)
J. Peripher. Nerv. Syst.
, vol.7
, pp. 221-224
-
-
Yoshihara, T.1
Yamamoto, M.2
Hattori, N.3
Misu, K.4
Mori, K.5
Koike, H.6
Sobue, G.7
-
50
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta
-
C. Zhao, J. Takita, Y. Tanaka, M. Setou, T. Nakagawa, S. Takeda, H.W. Yang, S. Terada, T. Nakata, and Y. Takei Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta Cell 105 2001 587 597
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
Setou, M.4
Nakagawa, T.5
Takeda, S.6
Yang, H.W.7
Terada, S.8
Nakata, T.9
Takei, Y.10
-
51
-
-
0031263931
-
Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
-
Q. Zhu, S. Couillard-Després, and J.P. Julien Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments Exp. Neurol. 148 1997 299 316
-
(1997)
Exp. Neurol.
, vol.148
, pp. 299-316
-
-
Zhu, Q.1
Couillard-Després, S.2
Julien, J.P.3
-
52
-
-
0347090624
-
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
-
S. Zuchner, M. Vorgerd, E. Sindern, and J.M. Schroder The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy Neuromuscular Disord. 14 2004 147 157
-
(2004)
Neuromuscular Disord.
, vol.14
, pp. 147-157
-
-
Zuchner, S.1
Vorgerd, M.2
Sindern, E.3
Schroder, J.M.4
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