Charcot-Marie-Tooth disease type 2CC due to<i>NEFH</i>variants causes a progressive, non-length-dependent, motor-predominant phenotype
Menelaos Pipis(Cyprus Institute of Neurology and Genetics), Mary M. Reilly(National Hospital for Neurology and Neurosurgery), Andrea Cortese(University of Pavia), Arnaud Jacquier(Université Claude Bernard Lyon 1), Tanya Stojkovic(Inserm), Mariola Skorupinska(National Hospital for Neurology and Neurosurgery), Guilhem Solé(Université de Bordeaux), Yves Fromes, Matilde Laurá(National Hospital for Neurology and Neurosurgery), Philippe Latour(Hospices Civils de Lyon), Roy Poh(National Hospital for Neurology and Neurosurgery), Jana Vandrovcová(Texas Tech University), Ki Wha Chung(Kongju National University), Raúl Juntas‐Morales(Université de Montpellier), Sachit Shah(Imperial College Healthcare NHS Trust), Byung‐Ok Choi(Samsung Medical Center), Julian Blake(Norfolk and Norwich University Hospitals NHS Foundation Trust), Alexander M. Rossor(National Hospital for Neurology and Neurosurgery), Philippe Petiot(Inserm), James M. Polke(National Hospital for Neurology and Neurosurgery)
Cited by 17
Related Papers
Ensembl 2012
|Nucleic Acids Research|2011|839
Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences
|Briefings in Bioinformatics|2016|815
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
|Nature Genetics|2011|635
Ensembl 2011
|Nucleic Acids Research|2010|600