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Muscle & Nerve|January 21, 2016
Muscle magnetic resonance imaging in congenital myasthenic syndromesSarah Finlayson, Jasper M Morrow, Pedro M Rodriguez Cruz, et al.American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.Brain : a Journal of Neurology|May 19, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsyRicardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, et al.Human Molecular Genetics|August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and miceAlistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.Autophagy|September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patientsCeline Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.Brain : a Journal of Neurology|September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelAndrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.Plos Genetics|December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor developmentStefano Lise, Yvonne Clarkson, Emma Perkins, et al.Journal of Medical Genetics|April 1, 2018
Retrospective natural history of thymidine kinase 2 deficiencyCaterina Garone, Robert W Taylor, Andrés Nascimento, et al.Pageof 5