Ellen Cottenie

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast et al. · The American Journal of Human Genetics · 2013 · 188 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Genetic dysfunction of <i>MT-ATP6</i> causes axonal Charcot-Marie-Tooth disease

Robert D. S. Pitceathly, Sinéad M. Murphy, Ellen Cottenie et al. · Neurology · 2012 · 110 citations · Full text

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochański, Albena Jordanova et al. · The American Journal of Human Genetics · 2014 · 108 citations · Full text

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Adriana Rebelo, Alexander J. Abrams, Ellen Cottenie et al. · The American Journal of Human Genetics · 2016 · 59 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Neurobiology Of Disease +13

Mutations in gamma adducin are associated with inherited cerebral palsy

Michael C. Kruer, Tyler Jepperson, Sudeshna Dutta et al. · Annals of Neurology · 2013 · 57 citations · Full text