(Q24299375)

GOA release 2020-03-11

vocalization behavior

1 reference

GOA release 2020-03-11

1 reference

1 reference

peripheral neuropathy

1 reference

14

0 references

Byung-Ok Choi

1

Byung-Ok Choi

0 references

Ki Wha Chung

15

Ki Wha Chung

0 references

Heasoo Koo

6

Heasoo Koo

0 references

Jeong Hyun Yoo

9

Jeong Hyun Yoo

0 references

Young Se Hyun

3

Young Se Hyun

0 references

Sang-Beom Kim

7

Sang-Beom Kim

0 references

author name string

Sung Hee Kang

2

0 references

Sumaria Kanwal

4

0 references

Sun Wha Park

5

0 references

Young-Chul Choi

8

0 references

Jong-Won Kim

10

0 references

Kee Duk Park

11

0 references

Kyoung-Gyu Choi

12

0 references

Song Ja Kim

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

13

0 references

language of work or name

English

0 references

publication date

June 2011

0 references

published in

Human Mutation

0 references

volume

32

0 references

issue

6

0 references

page(s)

669-77

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Mutations in ZASP define a novel form of muscular dystrophy in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Mutations in myotilin cause myofibrillar myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Diagnosis and new treatments in genetic neuropathies.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Diagnosis, natural history, and management 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=3103632

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

A novel myosin heavy chain gene in human chromosome 19q13.3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Clinical and genetic aspects of distal myopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

The devastating combination of Charcot-Marie-Tooth disease and facioscapulohumeral muscular dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103632

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

30 May 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

Searching for evidence of DFNB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21488

Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

12 December 2020

Becker muscular dystrophy combined with x-linked Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes

1 reference

12 December 2020