(Q53370571)

13 May 2018

title

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. (English)

1 reference

13 May 2018

author

Sung-Chul Jung

7

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13 May 2018

author name string

Byung-Ok Choi

1

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13 May 2018

Soo Kyung Koo

2

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13 May 2018

Mi-Hyun Park

3

1 reference

13 May 2018

Hwanseok Rhee

4

1 reference

13 May 2018

Song-Ju Yang

5

1 reference

13 May 2018

Kyoung-Gyu Choi

6

1 reference

13 May 2018

Han Su Kim

8

1 reference

13 May 2018

Young Se Hyun

9

1 reference

13 May 2018

Khriezhanuo Nakhro

10

1 reference

13 May 2018

Hye Jin Lee

11

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13 May 2018

Hae-Mi Woo

12

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13 May 2018

Ki Wha Chung

13

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13 May 2018

publication date

5 July 2012

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13 May 2018

published in

Human Mutation

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13 May 2018

volume

33

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13 May 2018

issue

11

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13 May 2018

page(s)

1610-1615

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13 May 2018

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

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Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

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Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

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Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development

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Depleting endogenous neurotrophin-3 enhances myelin formation in the Trembler-J mouse, a model of a peripheral neuropathy

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

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21 January 2018

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Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

21 January 2018

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Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

21 January 2018

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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

21 January 2018

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The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

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The clinical features of hereditary motor and sensory neuropathy types I and II

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22143

inferred from DOI database lookup

7 January 2021

based on heuristic

Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22143

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22143

1 reference

13 May 2018

PubMed ID

22730194

1 reference

13 May 2018