Genetic basis of inherited peripheral neuropathies. (Q40389551)

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20 October 2019

title

Genetic basis of inherited peripheral neuropathies (English)

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20 October 2019

2

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20 October 2019

author name string

Suter U

series ordinal

1

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20 October 2019

publication date

1 January 1994

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20 October 2019

language of work or name

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20 October 2019

volume

3

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20 October 2019

issue

2

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20 October 2019

page(s)

95-102

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publication type of scholarly work

20 October 2019

review article

1 reference

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

cites work

1 reference

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A growth arrest-specific (gas) gene codes for a membrane protein

21 January 2018

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Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

21 January 2018

1 reference

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7 January 2021

Studies on cultured rat Schwann cells. III. Assays for peripheral myelin proteins

1 reference

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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

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7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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7 January 2021

Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis

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7 January 2021

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

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7 January 2021

The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons

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7 January 2021

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

1 reference

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7 January 2021

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

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7 January 2021

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

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7 January 2021

De-novo mutation in hereditary motor and sensory neuropathy type I.

1 reference

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7 January 2021

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

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7 January 2021

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

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7 January 2021

The molecular genetics of myelination: An update

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

1 reference

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7 January 2021

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

1 reference

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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

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7 January 2021

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

1 reference

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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

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7 January 2021

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

1 reference

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7 January 2021

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

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7 January 2021

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

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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/10.1002%2FHUMU.1380030203

7 January 2021

Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030203

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/10.1002%2FHUMU.1380030203

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/10.1002%2FHUMU.1380030203

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/10.1002%2FHUMU.1380030203

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/10.1002%2FHUMU.1380030203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030203

7 January 2021

Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7515304%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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