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List of works by Valérie Biancalana

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

scientific article

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

scientific article published on 01 January 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in June 2005

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

scientific article published in September 2004

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

scientific article

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

scientific article (publication date: September 2007)

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

scientific article

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

scientific article published on February 2010

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

scientific article published on 12 September 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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