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List of works by Barbara Ryniewicz

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

scientific article published on 11 March 2008

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

scientific article published on 30 October 2014

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

scientific article

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

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

scientific article published on 16 March 2010

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.

scientific article published on 14 September 2011

[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].

scientific article

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