(Q34020724)

30 July 2017

0 references

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. (English)

1 reference

30 July 2017

13

1 reference

30 July 2017

11

Futreal PA

1 reference

30 July 2017

4

Teare MD

2 references

ORCID Public Data File 2021

30 July 2017

3

Williams H

2 references

ORCID Public Data File 2021

30 July 2017

McEntagart M

1

1 reference

30 July 2017

Norton N

2

1 reference

30 July 2017

Dunstan M

5

1 reference

30 July 2017

Baker P

6

1 reference

30 July 2017

Houlden H

7

1 reference

30 July 2017

Reilly M

8

1 reference

30 July 2017

Wood N

9

1 reference

30 July 2017

Harper PS

10

1 reference

30 July 2017

Williams N

12

1 reference

30 July 2017

language of work or name

English

0 references

publication date

4 April 2001

1 reference

American Journal of Human Genetics

30 July 2017

published in

1 reference

30 July 2017

volume

68

1 reference

30 July 2017

issue

5

1 reference

30 July 2017

page(s)

1270-1276

1 reference

A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

30 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=1226107

Inherited peripheral neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Hereditary distal spinal muscular atrophy with vocal cord paralysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Expression patterns of the homeo box-containing genes En-1 and En-2 and the proto-oncogene int-1 diverge during mouse development.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Distal spinal muscular atrophy with vocal cord paralysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Engrailed-1 and netrin-1 regulate axon pathfinding by association interneurons that project to motor neurons.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226107

2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 19

29 October 2018

1 reference

12 December 2020

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24

1 reference

12 December 2020

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

1 reference

12 December 2020

Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy

1 reference

12 December 2020

Distal hereditary motor neuronopathy of the Jerash type

1 reference

12 December 2020

[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome]

1 reference

12 December 2020

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 reference

12 December 2020

Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2

1 reference

12 December 2020

Identifiers

DOI

10.1086/320122

1 reference

release_ysyylbtlwnbtta3bexn2af3wqq

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ysyylbtlwnbtta3bexn2af3wqq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1226107

1 reference

30 July 2017

1 reference