(Q37522718)

20 August 2017

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation (English)

1 reference

20 August 2017

Katherine Mathews

5

0 references

Anthony Antonellis

4

object named as

Anthony Antonellis

1 reference

20 August 2017

Rabia Chaudhry

1

1 reference

20 August 2017

Aditi Kidambi

2

1 reference

20 August 2017

Megan Hwa Brewer

3

1 reference

20 August 2017

Garth Nicholson

6

1 reference

20 August 2017

Marina Kennerson

7

1 reference

20 August 2017

29 March 2013

1 reference

20 August 2017

1 reference

20 August 2017

47

1 reference

20 August 2017

6

1 reference

20 August 2017

922-924

1 reference

Integrative genomics viewer

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Molecular genetics of X-linked Charcot-Marie-Tooth disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Connexin mutations in X-linked Charcot-Marie-Tooth disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMUS.23743

Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMUS.23743

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5175269

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene

5 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553728

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553728

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23553728

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MUS.23743

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23553728

1 reference