Exome sequencing identifies FUS mutations as a cause of essential tremor (Q36152927)

12 August 2017

Exome sequencing identifies FUS mutations as a cause of essential tremor (English)

1 reference

12 August 2017

Guy A Rouleau

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Alexandre Dionne-Laporte

series ordinal

object named as

Alexandre Dionne-Laporte

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Hélène Catoire

series ordinal

object named as

Hélène Catoire

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Nancy D Merner

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Patrick A Dion

1 reference

12 August 2017

Nicolas Dupré

1 reference

12 August 2017

Dan Spiegelman

1 reference

12 August 2017

Patrick Cossette

1 reference

12 August 2017

Simon L Girard

1 reference

12 August 2017

Anne Noreau

1 reference

12 August 2017

Cynthia V Bourassa

1 reference

12 August 2017

Anna Szuto

1 reference

12 August 2017

Annie Levert

1 reference

12 August 2017

Pascale Hince

1 reference

12 August 2017

Sylvain Chouinard

1 reference

12 August 2017

Véronique V Belzil

1 reference

12 August 2017

Jean-Baptiste Rivière

series ordinal

object named as

Jean-Baptiste Rivière

1 reference

12 August 2017

Geneviève Bernard

1 reference

12 August 2017

Sabrina Diab

1 reference

12 August 2017

Michel Panisset

1 reference

12 August 2017

Hélène Fournier

1 reference

12 August 2017

John Raelson

1 reference

12 August 2017

Majid Belouchi

1 reference

12 August 2017

language of work or name

English

0 references

publication date

2 August 2012

1 reference

American Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

1 reference

12 August 2017

1 reference

12 August 2017

313-319

1 reference

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

A yeast model of FUS/TLS-dependent cytotoxicity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Revisiting Mendelian disorders through exome sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Exome sequencing reveals VCP mutations as a cause of familial ALS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

"Hairy baskets" associated with degenerative Purkinje cell changes in essential tremor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Exome sequencing identifies the cause of a mendelian disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Essential tremor--neurodegenerative or nondegenerative disease towards a working definition of ET.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Genetics of essential tremor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B' and the Sm-like protein LSm4, and their interaction with the SMN protein.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Essential tremor: an overdiagnosed condition?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Male sterility and enhanced radiation sensitivity in TLS(-/-) mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

A gene (ETM) for essential tremor maps to chromosome 2p22‐p25

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Mapping of a familial essential tremor gene, FET1, to chromosome 3q13

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Diagnostic criteria for essential tremor: a population perspective.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Genetic contribution of FUS to frontotemporal lobar degeneration

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Essential tremor in Parkinson's disease kindreds from a population of similar genetic background

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Common misdiagnosis of a common neurological disorder: how are we misdiagnosing essential tremor?

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415547

Rapid voice tremor, or "flutter," in amyotrophic lateral sclerosis

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22863194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22863194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel missense and truncating mutations in FUS/TLS in familial ALS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22863194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.07.002

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22863194

1 reference