(Q34195421)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21705420%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4 (English)

1 reference

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6 February 2020

2

1 reference

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6 February 2020

Stephen W Reddel

3

1 reference

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6 February 2020

author name string

Garth Nicholson

1

1 reference

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6 February 2020

Adrienne E Grant

4

1 reference

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6 February 2020

Charles F Towne

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21705420%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Cole J Ferguson

6

1 reference

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6 February 2020

Ericka Simpson

7

1 reference

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6 February 2020

Angela Scheuerle

8

1 reference

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6 February 2020

Michelle Yasick

9

1 reference

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6 February 2020

Stuart Hoffman

10

1 reference

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6 February 2020

Randall Blouin

11

1 reference

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6 February 2020

Carla Brandt

12

1 reference

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6 February 2020

Giovanni Coppola

13

1 reference

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6 February 2020

Sat D Batish

15

1 reference

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6 February 2020

Miriam H Meisler

16

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6 February 2020

Leslie G Biesecker

14

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6 February 2020

language of work or name

English

0 references

publication date

1 July 2011

1 reference

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6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21705420%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

134

1 reference

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6 February 2020

issue

Pt 7

1 reference

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6 February 2020

page(s)

1959-1971

1 reference

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Charcot-Marie-Tooth disease subtypes and genetic testing strategies

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Charcot-Marie-Tooth disease: a clinico-genetic confrontation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3122378

Abundance, distribution, and mutation rates of homopolymeric nucleotide runs in the genome of Caenorhabditis elegans

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR148

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR148

Criteria for demyelination based on the maximum slowing due to axonal degeneration, determined after warming in water at 37 degrees C: diagnostic yield in chronic inflammatory demyelinating polyneuropathy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR148

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWR148

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21705420%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21705420%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

21705420

1 reference