CMT2CC associated withNEFHmutations: a predominantly motor neuronopathy
- 13 September 2021
- journal article
- editorial
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 93 (1), 1.2-1
- https://doi.org/10.1136/jnnp-2021-327438
Abstract
No abstract availableThis publication has 4 references indexed in Scilit:
- Charcot-Marie-Tooth disease type 2CC due toNEFHvariants causes a progressive, non-length-dependent, motor-predominant phenotypeJournal of Neurology, Neurosurgery & Psychiatry, 2021
- Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFHJournal of the Peripheral Nervous System, 2021
- Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal NeuropathyAmerican Journal of Human Genetics, 2016
- Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological propertiesExperimental Neurology, 2015