(Q74297199)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

10 November 2019

main subject

1 reference

based on heuristic

inferred from title

progressive muscular atrophy

1 reference

1 reference

L Cervenakova

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

I I Protas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A Hirano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

V I Votiakov

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M K Nedzved

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

N D Kolomiets

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

I Taller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

K Y Park

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

N Sambuughin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

D C Gajdusek

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P Brown

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

L G Goldfarb

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 August 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

177

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

124-130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

Motor neuron disease in the province of Turin, Italy, 1966–1980

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

The central nervous system in motor neurone disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Autosomal dominant adult amyotrophic lateral sclerosis. A six generation Dutch family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Familial motor neuron disease. Evidence for at least three different types

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

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%2800%2900350-6

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%2800%2900350-6

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%2800%2900350-6

Mutations in all five exons ofSOD-1 may cause ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Identification and characterization of a spinal muscular atrophy-determining gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

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%2800%2900350-6

Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

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%2800%2900350-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

Familial amyotrophic lateral sclerosis. A subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900350-6

10.1016/S0022-510X(00)00350-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10980308%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference