Genetics of familial ALS and consequences for diagnosis. French ALS Research Group (Q78130400)

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11 December 2019

title

Genetics of familial ALS and consequences for diagnosis. French ALS Research Group (English)

1 reference

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amyotrophic lateral sclerosis

11 December 2019

main subject

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6

G A Rouleau

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11 December 2019

5

V Briolotti

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11 December 2019

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author name string

W Camu

1

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11 December 2019

J Khoris

2

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11 December 2019

B Moulard

3

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11 December 2019

F Salachas

4

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11 December 2019

V Meininger

7

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11 December 2019

publication date

1 June 1999

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Journal of the Neurological Sciences

11 December 2019

published in

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11 December 2019

volume

165 Suppl 1

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11 December 2019

page(s)

S21-6

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

11 December 2019

cites work

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

7 January 2021

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

7 January 2021

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Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

7 January 2021

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Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene

7 January 2021

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

7 January 2021

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Phenotypic heterogeneity in motor neuron disease patients with CuZn- superoxide dismutase mutations in Scandinavia

7 January 2021

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Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. I.

7 January 2021

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Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

7 January 2021

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Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene

7 January 2021

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Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

7 January 2021

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

7 January 2021

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Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS

7 January 2021

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El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

7 January 2021

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SMN gene deletions in adult-onset spinal muscular atrophy

7 January 2021

1 reference

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Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease

7 January 2021

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Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

7 January 2021

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Identification and characterization of a spinal muscular atrophy-determining gene

7 January 2021

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Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

7 January 2021

1 reference

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

7 January 2021

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Machado-Joseph disease and SCA3: the genotype meets the phenotypes

7 January 2021

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Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

7 January 2021

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10.1016/S0022-510X(99)00022-2

7 January 2021

Identifiers

DOI

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11 December 2019

1 reference