Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Q57390292)

Michael Hunter

1

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Nicolas Levy

Nicolas Levy

18

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Hanns Lochmüller

Hanns Lochmüller

14

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Luba Kalaydjieva

19

Luba Kalaydjieva

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author name string

Rafaëlle Bernard

2

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Elizabeth Freitas

3

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Amandine Boyer

4

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Ian J. Martins

6

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Ivailo Tournev

7

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Albena Jordanova

8

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Velina Guergelcheva

9

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Boryana Ishpekova

10

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Ivo Kremensky

11

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Garth Nicholson

12

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Beate Schlotter

13

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Thomas Voit

15

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Jaume Colomer

16

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P.K. Thomas

HMSNL in a 13-year-old Bulgarian girl

17

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publication date

23 June 2003

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published in

Human Mutation

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volume

22

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issue

2

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page(s)

129-135

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cites work

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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

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Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

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Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

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Identification of a novel class in the alpha/beta hydrolase fold superfamily: the N-myc differentiation-related proteins.

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Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

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inferred from DOI database lookup

7 January 2021

based on heuristic

The many faces of Charcot-Marie-Tooth disease

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inferred from DOI database lookup

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Identification of a stress-induced protein during human trophoblast differentiation by differential display analysis.

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