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"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

artículo científico publicado en 2008

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

artículo científico publicado en 2011

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

artículo científico publicado en 2014

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

artículo científico publicado en 2002

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

artículo científico publicado en 2003

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy

artículo científico publicado en 2005

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France

artículo científico publicado en 2004

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

artículo científico publicado en 2012

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

artículo científico publicado en 2007

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

artículo científico publicado en 2012

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

artículo científico

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

artículo científico publicado en 2018

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

article

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