Clinical and morphological phenotype of HMSN 1A mosaicism (Q73299435)

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2 November 2019

title

Clinical and morphological phenotype of HMSN 1A mosaicism (English)

1 reference

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2 November 2019

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5

A Ekici

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2 November 2019

author name string

H Grehl

1

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2 November 2019

B Rautenstrauss

2

1 reference

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2 November 2019

T Liehr

3

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2 November 2019

A Bickel

4

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2 November 2019

K Bathke

6

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2 November 2019

B Neundörfer

7

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2 November 2019

publication date

1 January 1997

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2 November 2019

published in

Neuromuscular Disorders

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2 November 2019

volume

7

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2 November 2019

issue

1

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2 November 2019

page(s)

27-31

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

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

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/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

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/10.1016%2FS0960-8966%2896%2900396-3

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/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

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/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

Inheritance of CMT1A duplication from a mosaic father

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2896%2900396-3

7 January 2021

10.1016/S0960-8966(96)00396-3

Identifiers

DOI

1 reference

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2 November 2019

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