L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype (Q83194092)

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19 January 2020

title

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype (English)

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6

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Magdalena Zimon

9

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19 January 2020

Andrzej Kochański

18

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Irena Hausmanowa-Petrusewicz

19 January 2020

17

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Irena Hausmanowa-Petrusewicz

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Anna Kostera-Pruszczyk

3

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Anna Kostera-Pruszczyk

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Dagmara Kabzińska

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4

Barbara Ryniewicz

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10

Jonathan Baets

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Halina Strugalska-Cynowska

19 January 2020

2

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Halina Strugalska-Cynowska

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5

Renata Posmyk

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author name string

Pavel Seeman

7

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19 January 2020

Lucia Báranková

8

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Vincent Timmerman

11

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Velina Guergueltcheva

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Ivailo Tournev

13

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19 January 2020

Stayko Sarafov

14

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Peter De Jonghe

15

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Albena Jordanova

16

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publication date

16 March 2010

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19 January 2020

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volume

11

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issue

3

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19 January 2020

page(s)

357-366

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https://scigraph.springernature.com/pub.10.1007/s10048-010-0237-6

19 January 2020

exact match

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cites work

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

1 reference

12 December 2020

Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase

1 reference

12 December 2020

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

1 reference

12 December 2020

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

1 reference

12 December 2020

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

1 reference

12 December 2020

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease

1 reference

12 December 2020

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

1 reference

12 December 2020

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

1 reference

12 December 2020

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

1 reference

12 December 2020

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

1 reference

12 December 2020

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

12 December 2020

GDAP1 mutations in Czech families with early-onset CMT

1 reference

12 December 2020

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

1 reference

12 December 2020

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

1 reference

12 December 2020

CMT4A: identification of a Hispanic GDAP1 founder mutation

1 reference

12 December 2020

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

1 reference

12 December 2020

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

1 reference

12 December 2020

10.1007/S10048-010-0237-6

Identifiers

DOI

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19 January 2020

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