Concepedia

Ellen Cottenie

EC

Statistics

Publications

6

Citations

579

H-Index

6

Active since

2012

Affiliations

University College London(Current)

National Hospital for Neurology and Neurosurgery

University of Miami

Dr. John T. Macdonald Foundation

Norfolk and Norwich University Hospital

Ellen Cottenie is an author at University College London specializing in genetics, life sciences, and human genetics.

Publications per year

2012–2016

6

Publications

6

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 · 192 citations · Full text

, , +10

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 · 111 citations · Full text

, , +17

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 · 110 citations · Full text

, , +14

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

, , +14

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

, , +16

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