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List of works by Hanna Drac

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

scientific article published on 02 March 2011

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

scientific article

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

scientific article published on 11 March 2008

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

scientific article published in March 2004

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

scientific article

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

scientific article published on 3 November 2010

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

scientific article

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family

scientific article published on May 2010

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

scientific article published on September 2006

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

scientific article published on 01 September 2007

Phenomenon of Schwann cell apoptosis in a case of congenital hypomyelinating neuropathy with basal lamina onion bulb formation

scientific article

Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient

scientific article published on 2 November 2015

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation

scientific article published on 29 December 2020

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