(Q62583495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252046%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252046%20AND%20SRC:MED&resulttype=core&format=json

Charcot–Marie–Tooth disease

28 October 2019

main subject

1 reference

8

1 reference

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28 October 2019

Pragna I Patel

10

1 reference

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28 October 2019

9

Shooter EM

1 reference

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28 October 2019

author name string

Roa BB

1

1 reference

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28 October 2019

Garcia CA

2

1 reference

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28 October 2019

Pentao L

3

1 reference

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28 October 2019

Killian JM

4

1 reference

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28 October 2019

Trask BJ

5

1 reference

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28 October 2019

Suter U

6

1 reference

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28 October 2019

Snipes GJ

7

1 reference

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28 October 2019

Lupski JR

11

1 reference

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28 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

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28 October 2019

1 reference

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28 October 2019

volume

5

1 reference

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28 October 2019

page(s)

189-194

1 reference

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28 October 2019

issue

2

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1093-189

28 October 2019

exact match

0 references

cites work

Hereditary motor and sensory neuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Autosomal recessive forms of hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Autosomal recessive form of hereditary motor and sensory neuropathy type I.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Retinal genetics: a nullifying effect for rhodopsin

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-189

7 January 2021

Identifiers

DOI

10.1038/NG1093-189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252046%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 October 2019

0 references

1 reference