Bernard Échenne
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genetic Neurodegenerative Diseases, Metabolism and Genetic Disorders
Most-Cited Works
- → Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus(2000)494 cited
- → Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations(2004)445 cited
- → Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results(2004)405 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions(2012)262 cited
- → Levodopa-responsive dystonia(2000)191 cited
- → Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy(2002)167 cited
- → Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q(1997)166 cited
- → Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy(2011)154 cited
- → Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression(2009)153 cited