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Nature Genetics|April 28, 2019
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology|November 1, 2011
Extending the clinical research network approach to all of healthcareJ Darbyshire, J Sitzia, D Cameron, et al.
Annals of Neurology|April 13, 2024
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1ACarolynne M Doherty, Paige Howard, Luke F O'Donnell, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adultsDavid S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Nature|September 13, 1990
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorderP H St George-Hyslop, J L Haines, L A Farrer, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
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