Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy (Q24532191)

4 July 2017

title

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy (English)

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4 July 2017

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7

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Eva Nelis

30

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Nathalie Verpoorten

5

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Claudia Stendel

3

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Sabine Rudnik-Schöneborn

21

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Yesim Parman

12

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Peter De Jonghe

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Jan Senderek

1

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Esra Battaloğlu

11

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Haluk Topaloglu

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Roman Chrast

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Klaus Zerres

31

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Bernd Rautenstrauss

28

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Stephan Züchner

22

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Volker Straub

25

object named as

Volker Straub

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4 July 2017

Carsten Bergmann

2

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4 July 2017

Jutta Kirfel

4

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4 July 2017

Mark H G Verheijen

9

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4 July 2017

Greg Lemke

10

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4 July 2017

Sevim Erdem

13

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4 July 2017

Ersin Tan

14

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4 July 2017

Andreas Hahn

16

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4 July 2017

Wolfgang Müller-Felber

17

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4 July 2017

Nicolò Rizzuto

18

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4 July 2017

Gian Maria Fabrizi

19

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4 July 2017

Manfred Stuhrmann

20

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4 July 2017

J Michael Schröder

23

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4 July 2017

Eckhard Buchheim

24

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Jörg Klepper

26

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Kathrin Huehne

27

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Reinhard Büttner

29

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4 July 2017

language of work or name

English

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publication date

21 October 2003

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

73

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4 July 2017

issue

5

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4 July 2017

page(s)

1106-1119

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

The extracellular human melanoma inhibitory activity (MIA) protein adopts an SH3 domain-like fold

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Protein modules and signalling networks

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Local regulation of fat metabolism in peripheral nerves

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Exon skipping in Mcl-1 results in a bcl-2 homology domain 3 only gene product that promotes cell death

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Phenomenon of Schwann cell apoptosis in a case of congenital hypomyelinating neuropathy with basal lamina onion bulb formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180490

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1

29 November 2018

1 reference

12 December 2020

Dominant expression of a novel splice variant of caspase-8 in human peripheral blood lymphocytes

1 reference

12 December 2020

Autosomal recessive hereditary motor and sensory neuropathy

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternative splicing and programmed cell death

1 reference

12 December 2020

4th Workshop of the European CMT-Consortium--62nd ENMC International Workshop: rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands

1 reference

12 December 2020

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F379525

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/379525

1 reference

OpenCitations bibliographic resource ID

4 July 2017

2410580

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2410580

1 reference