Valérie Biancalana
Institut de génétique et de biologie moléculaire et cellulaire(FR)Hôpitaux Universitaires de Strasbourg(FR)Génétique Moléculaire Génomique Microbiologie(FR)Hôpital Civil, Strasbourg(FR)Université de Strasbourg(FR)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cellular transport and secretion, Cardiomyopathy and Myosin Studies, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation(1991)641 cited
- Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats(1996)
- → Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy(2007)431 cited
- → Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans(2003)428 cited
- → Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles(2003)418 cited
- → Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy(2000)411 cited
- →