(Q46754892)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

The rare G93D mutation causes a slowly progressing lower motor neuron disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

5

1 reference

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2 January 2020

Andrea Calvo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Adriano Chiò

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Federica Lombardo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Luca Sbaiz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Cristina Mari

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Dario Alimonti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Luisella Tarenzi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Gabriella Restagno

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

publication date

1 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

2 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

35-39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

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

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

Evolution of CuZn superoxide dismutase and the Greek key beta-barrel structural motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

Calorimetric analysis of thermodynamic stability and aggregation for apo and holo amyotrophic lateral sclerosis-associated Gly-93 mutants of superoxide dismutase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

Beyond Mendel: an evolving view of human genetic disease transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F17482960701788198

10.1080/17482960701788198

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18273717%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference