Biancalana, Valérie

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

Nicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., et al. (2007) · Nature Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 434

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 421

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., & Calvas, P. (2001) · European Journal of Human Genetics

dental development and anomaliesGenetic and rare skin diseases.

Cited by 105

X-linked myotubular myopathy: A prospective international natural history study

Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D'Amico, A., Dowling, J. J., Darras, B. T., et al. (2019) · Neurology

Neurogenetic and Muscular Disorders ResearchMuscle Physiology and Disorders

Cited by 94