(Q77060627)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11676987%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11676987%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

2 December 2019

main subject

1 reference

8

1 reference

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2 December 2019

Juraj Sepčić

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11676987%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

Antonio Amoroso

15

1 reference

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2 December 2019

author name string

G Masè

1

1 reference

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2 December 2019

S Ros

2

1 reference

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2 December 2019

A Gemma

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11676987%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

L Bonfigli

4

1 reference

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2 December 2019

N Carraro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11676987%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

G Cazzato

6

1 reference

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2 December 2019

M Rolfo

7

1 reference

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2 December 2019

A Jurjevic

10

1 reference

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2 December 2019

D Pirulli

11

1 reference

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2 December 2019

M Boniotto

12

1 reference

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2 December 2019

S Zezlina

13

1 reference

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2 December 2019

S Crovella

14

1 reference

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2 December 2019

publication date

1 October 2001

1 reference

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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

1 reference

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2 December 2019

issue

1-2

1 reference

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2 December 2019

page(s)

11-18

1 reference

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Amyotrophic lateral sclerosis

2 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

7 January 2021

Non-Alzheimer dementias

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

Amyotrophic lateral sclerosis associated with thyrotoxicosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

Amyotrophic lateral sclerosis. Associated clinical disorders and immunological evaluations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900625-6

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

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11676987%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

1 reference