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Publications by Katarzyna Kotruchow

A Severe Recessive and a Mild Dominant Form of Charcot-Marie-Tooth Disease Associated With a Newly Identified Glu222Lys GDAP1 Gene Mutation.

Acta Biochimica Polonica
BiochemistryGeneticsMolecular Biology
2014English

Related publications

Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene

Archives of Neurology
2003English

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

American Journal of Human Genetics
Genetics
2014English

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics
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2011English

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A1

2020English

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2U

2020English

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2O

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2B

2020English

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Q

2020English

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