(Q37073802)

18 August 2017

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs (English)

1 reference

18 August 2017

Michaela Auer-Grumbach

6

object named as

Michaela Auer-Grumbach

0 references

Stephan Züchner

10

object named as

Stephan Zuchner

1 reference

18 August 2017

9

Robert H Baloh

1 reference

18 August 2017

Obaid M Albulym

1

1 reference

18 August 2017

Marina L Kennerson

2

1 reference

18 August 2017

Matthew B Harms

3

1 reference

18 August 2017

Alexander P Drew

4

1 reference

18 August 2017

Anna H Siddell

5

1 reference

18 August 2017

Alan Pestronk

7

1 reference

18 August 2017

Anne Connolly

8

1 reference

18 August 2017

Stephen W Reddel

11

1 reference

18 August 2017

Garth A Nicholson

12

1 reference

18 August 2017

language of work or name

1 reference

10 December 2015

1 reference

18 August 2017

1 reference

18 August 2017

79

1 reference

18 August 2017

3

1 reference

18 August 2017

419-427

1 reference

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

By recruiting HDAC1, MORC2 suppresses p21 Waf1/Cip1 in gastric cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Cytosolic functions of MORC2 in lipogenesis and adipogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

The MORC family: new epigenetic regulators of transcription and DNA damage response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

MORC2 signaling integrates phosphorylation-dependent, ATPase-coupled chromatin remodeling during the DNA damage response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Identification and expression analysis of a novel CW-type zinc finger protein MORC2 in cancer cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Involvement of histone deacetylation in MORC2-mediated down-regulation of carbonic anhydrase IX.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

The HINT1 tumor suppressor regulates both gamma-H2AX and ATM in response to DNA damage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Nucleocytosolic acetyl-coenzyme a synthetase is required for histone acetylation and global transcription

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Histone H2A.Z controls a critical chromatin remodeling step required for DNA double-strand break repair

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

CMT with pyramidal features. Charcot-Marie-Tooth

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4936275

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26659848

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26659848

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The utilization of choline and acetyl coenzyme A for the synthesis of acetylcholine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26659848

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.24575

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

26659848

1 reference