(Q42650955)

4 November 2017

Evidence for an oligogenic basis of amyotrophic lateral sclerosis (English)

1 reference

amyotrophic lateral sclerosis

4 November 2017

0 references

author

Marka van Blitterswijk

1

object named as

Marka van Blitterswijk

0 references

Leonard H van den Berg

13

object named as

Leonard H van den Berg

1 reference

4 November 2017

12

Jan H Veldink

1 reference

4 November 2017

Michael A van Es

2

1 reference

4 November 2017

Eric A M Hennekam

3

1 reference

4 November 2017

Dennis Dooijes

4

1 reference

4 November 2017

Wouter van Rheenen

5

1 reference

4 November 2017

Jelena Medic

6

1 reference

4 November 2017

Pierre R Bourque

7

1 reference

4 November 2017

Helenius J Schelhaas

8

1 reference

4 November 2017

Anneke J van der Kooi

9

1 reference

4 November 2017

Marianne de Visser

10

1 reference

4 November 2017

Paul I W de Bakker

11

1 reference

4 November 2017

29 May 2012

1 reference

4 November 2017

Human Molecular Genetics

1 reference

4 November 2017

21

1 reference

4 November 2017

17

1 reference

4 November 2017

3776-3784

1 reference

Genetics of familial amyotrophic lateral sclerosis

4 November 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Recent advances in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

An estimate of amyotrophic lateral sclerosis heritability using twin data.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Reduced frequency of ALS in an ethnically mixed population: a population-based mortality study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Ethnic variation in the incidence of ALS: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Angiogenin protects motoneurons against hypoxic injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

A new role for angiogenin in neurite growth and pathfinding: implications for amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Mutations in FUS cause FALS and SALS in French and French Canadian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

FUS mutations in sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS199

https://api.fatcat.wiki/v0/release/i2kdtqslrvg6fc5gz4y3falprq

21 January 2018

Identifiers

1 reference

mapped directly with Wikidata item

30 July 2022

based on heuristic

Fatcat ID

release_i2kdtqslrvg6fc5gz4y3falprq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i2kdtqslrvg6fc5gz4y3falprq

mapped directly with Wikidata item

30 July 2022

based on heuristic

1 reference

https://api.fatcat.wiki/v0/release/i2kdtqslrvg6fc5gz4y3falprq