(Q83194092)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20232219%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

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

1 reference

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19 January 2020

6

1 reference

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19 January 2020

Magdalena Zimon

9

1 reference

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19 January 2020

Andrzej Kochański

18

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Irena Hausmanowa-Petrusewicz

19 January 2020

17

object named as

Irena Hausmanowa-Petrusewicz

1 reference

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19 January 2020

Anna Kostera-Pruszczyk

3

object named as

Anna Kostera-Pruszczyk

1 reference

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19 January 2020

1

Dagmara Kabzińska

1 reference

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19 January 2020

4

Barbara Ryniewicz

1 reference

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19 January 2020

10

Jonathan Baets

1 reference

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Halina Strugalska-Cynowska

19 January 2020

2

object named as

Halina Strugalska-Cynowska

1 reference

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19 January 2020

5

Renata Posmyk

1 reference

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19 January 2020

author name string

Pavel Seeman

7

1 reference

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19 January 2020

Lucia Báranková

8

1 reference

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19 January 2020

Vincent Timmerman

11

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19 January 2020

Velina Guergueltcheva

12

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19 January 2020

Ivailo Tournev

13

1 reference

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19 January 2020

Stayko Sarafov

14

1 reference

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19 January 2020

Peter De Jonghe

15

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19 January 2020

Albena Jordanova

16

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19 January 2020

publication date

16 March 2010

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19 January 2020

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19 January 2020

volume

11

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19 January 2020

issue

3

1 reference

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19 January 2020

page(s)

357-366

1 reference

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

19 January 2020

exact match

0 references

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20232219%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference