ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene (Q77060627)

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2 December 2019

title

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene (English)

1 reference

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amyotrophic lateral sclerosis

2 December 2019

main subject

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8

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2 December 2019

Juraj Sepčić

9

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2 December 2019

Antonio Amoroso

15

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2 December 2019

author name string

G Masè

1

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2 December 2019

S Ros

2

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2 December 2019

A Gemma

3

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2 December 2019

L Bonfigli

4

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2 December 2019

N Carraro

5

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2 December 2019

G Cazzato

6

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2 December 2019

M Rolfo

7

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2 December 2019

A Jurjevic

10

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2 December 2019

D Pirulli

11

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2 December 2019

M Boniotto

12

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2 December 2019

S Zezlina

13

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2 December 2019

S Crovella

14

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2 December 2019

publication date

1 October 2001

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Journal of the Neurological Sciences

2 December 2019

published in

1 reference

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2 December 2019

volume

191

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2 December 2019

issue

1-2

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2 December 2019

page(s)

11-18

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Amyotrophic lateral sclerosis

2 December 2019

cites work

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Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

7 January 2021

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

7 January 2021

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Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis

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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Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation

7 January 2021

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Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations

7 January 2021

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Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

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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Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser)

7 January 2021

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7 January 2021

Non-Alzheimer dementias

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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

7 January 2021

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Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

7 January 2021

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Frontotemporal dementia with motor neuron disease (amyotrophic lateral sclerosis with dementia).

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Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS).

7 January 2021

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Frontal type dementia preceding amyotrophic lateral sclerosis: a neuropsychological and SPECT study of five clinical cases

7 January 2021

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Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

7 January 2021

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Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

7 January 2021

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Cerebral blood flow and oxygen metabolism in progressive dementia associated with amyotrophic lateral sclerosis

7 January 2021

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Pyramidal tract deficits and polyneuropathy in hyperthyroidism, Combination clinically mimicking amyotrophic lateral sclerosis

7 January 2021

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Amyotrophic lateral sclerosis associated with thyrotoxicosis

7 January 2021

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Motor neurone disease and hyperthyroid Graves' disease: a chance association?

7 January 2021

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Amyotrophic lateral sclerosis. Associated clinical disorders and immunological evaluations

7 January 2021

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Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium

7 January 2021

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Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation

7 January 2021

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10.1016/S0022-510X(01)00625-6

7 January 2021

Identifiers

DOI

1 reference

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2 December 2019

1 reference