Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ◽

10.1080/21678421.2020.1797092 ◽

2020 ◽

pp. 1-3

Author(s):

Kazumoto Shibuya ◽

Setsu Sawai ◽

Atsuhiko Sugiyama ◽

Mizuho Koide ◽

Ayumi Nishiyama ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders ◽

10.1080/14660820310011700 ◽

2003 ◽

Vol 4 (2) ◽

pp. 62-73 ◽

Author(s):

Peter M Andersen ◽

Katherine B Sims ◽

Winnie W Xin ◽

Rosemary Kiely ◽

Gilmore O'Neill ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Novel Mutations ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in superoxide dismutase gene: A possible new subtype of familial ALS

Journal of the Neurological Sciences ◽

10.1016/0022-510x(94)90097-3 ◽

1994 ◽

Vol 126 (1) ◽

pp. 77-83 ◽

Author(s):

Masashi Aoki ◽

Masahito Ogasawara ◽

Yoichi Matsubara ◽

Kuniaki Narisawa ◽

Shozo Nakamura ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Familial Amyotrophic Lateral Sclerosis ◽

Familial Als ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.63.6.814a ◽

1997 ◽

Vol 63 (6) ◽

pp. 814a-815a ◽

Author(s):

N G LAING ◽

T SIDDIQUE; ◽

A RADUNOVI ◽

P. LEIGH

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Clinical Features ◽

Gene Mutations ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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A Novel Mutation in Cu/Zn Superoxide Dismutase Gene in Japanese Familial Amyotrophic Lateral Sclerosis

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1994.1506 ◽

1994 ◽

Vol 200 (2) ◽

pp. 695-703 ◽

Author(s):

R. Nakano ◽

S. Sato ◽

T. Inuzuka ◽

K. Sakimura ◽

M. Mishina ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Novel Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

Neuroscience Letters ◽

10.1016/s0304-3940(00)01032-6 ◽

2000 ◽

Vol 285 (2) ◽

pp. 83-86 ◽

Author(s):

Antonio Orlacchio ◽

Toshitaka Kawarai ◽

Anna Maria Massaro ◽

Peter H St George-Hyslop ◽

Sandro Sorbi

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Familial Amyotrophic Lateral Sclerosis ◽

Copper Chaperone ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.92.3.689 ◽

1995 ◽

Vol 92 (3) ◽

pp. 689-693 ◽

Author(s):

M. E. Ripps ◽

G. W. Huntley ◽

P. R. Hof ◽

J. H. Morrison ◽

J. W. Gordon

Keyword(s):

Animal Model ◽

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Transgenic Mice ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Nature ◽

10.1038/364362c0 ◽

1993 ◽

Vol 364 (6435) ◽

pp. 362-362 ◽

Author(s):

Daniel Rosen

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Molecular Analyses of the Cu/Zn Superoxide Dismutase Gene in Patients with Familial Amyotrophic Lateral Sclerosis (ALS) in Japan

Cellular and Molecular Neurobiology ◽

10.1023/a:1020681802277 ◽

1998 ◽

Vol 18 (6) ◽

pp. 639-647

Author(s):

Masashi Aoki ◽

Koji Abe ◽

Yasuto Itoyama

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Familial Amyotrophic Lateral Sclerosis ◽

Molecular Analyses ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

Neuroscience Letters ◽

10.1016/s0304-3940(99)00803-4 ◽

1999 ◽

Vol 276 (2) ◽

pp. 135-137 ◽

Author(s):

Satoshi Kohno ◽

Yoshitomo Takahashi ◽

Hiroaki Miyajima ◽

Masahiro Serizawa ◽

Koichi Mizoguchi

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Novel Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

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Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation

Acta Neuropathologica ◽

10.1007/s00401-004-0893-4 ◽

2004 ◽

Vol 108 (4) ◽

pp. 332-336 ◽

Author(s):

Chun-Feng Tan ◽

Yue-Shan Piao ◽

Shintaro Hayashi ◽

Hiroaki Obata ◽

Yoshitaka Umeda ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Bulbar Onset ◽

Superoxide Dismutase Gene ◽

Lateral Sclerosis

Download Full-text