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A man with sarcoidosis and slurred speech

scientific article published on 18 September 2019

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

artículo científico publicado en 2010

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

scientific article published on 07 July 2020

Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

artículo científico publicado en 2012

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

artículo científico publicado en 2013

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

scientific article published on 20 May 2020

Oxaliplatin, neurotoxicity, and the search for the lost channel

artículo científico publicado en 2019

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

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