(Q33894031)

24878229

29 July 2017

title

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease (English)

1 reference

29 July 2017

Manoj P Menezes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Leigh Waddell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Simranpreet Kaur

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Daniel G MacArthur

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Miriam H Meisler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

language of work or name

1 reference

4 May 2014

1 reference

24878229

29 July 2017

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

24

1 reference

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5 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

666-670

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Hereditary peripheral neuropathies of childhood: an overview for clinicians

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Clinical and genetic characterization of manifesting carriers of DMD mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

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=4096049

The complete genome of an individual by massively parallel DNA 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=4096049

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=4096049

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096049

The clinical features of hereditary motor and sensory neuropathy types I and II

29 October 2018

1 reference

12 December 2020

The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

1 reference

12 December 2020

Charcot-Marie-Tooth disease

1 reference

12 December 2020

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

1 reference

12 December 2020

10.1016/J.NMD.2014.04.010

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878229%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

24878229

1 reference