A review of genetic counseling for Charcot Marie Tooth disease (CMT). (Q38100659)

28 August 2017

title

A review of genetic counseling for Charcot Marie Tooth disease (CMT). (English)

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28 August 2017

Carly E Siskind

1

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28 August 2017

Seema Panchal

2

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28 August 2017

Corrine O Smith

3

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28 August 2017

Shawna M E Feely

4

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28 August 2017

Joline C Dalton

5

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28 August 2017

Alice B Schindler

6

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28 August 2017

Karen M Krajewski

7

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28 August 2017

publication date

21 April 2013

1 reference

Journal of Genetic Counseling

28 August 2017

published in

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28 August 2017

volume

22

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28 August 2017

issue

4

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28 August 2017

page(s)

422-436

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Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

28 August 2017

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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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

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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

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

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Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

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CMT1X phenotypes represent loss of GJB1 gene function

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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Phenotype expression in women with CMT1X

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Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

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12 December 2020

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

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High frequency of SH3TC2 mutations in Czech HMSN I patients

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12 December 2020

10.1007/S10897-013-9584-4

Identifiers

DOI

1 reference

28 August 2017

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