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European Journal of Neurology|September 20, 2021
Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteriaXavier Ayrignac, Clarisse Carra-Dallière, Pekes Codjia, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 31, 2021
Impact of a frequent nearsplice <i>SOD1</i> variant in amyotrophic lateral sclerosis: optimising <i>SOD1</i> genetic screening for gene therapy opportunitiesFrançois Muratet, Elisa Teyssou, Aude Chiot, et al.The Journal of Clinical Endocrinology and Metabolism|December 15, 2010
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patientsLaurent Maimoun, Pascal Philibert, Benoit Cammas, et al.NPJ Genomic Medicine|November 5, 2021
A recurrent SHANK3 frameshift variant in Autism Spectrum DisorderLivia O Loureiro, Jennifer L Howe, Miriam S Reuter, et al.Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.Plos Genetics|September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsClaire S Leblond, Caroline Nava, Anne Polge, et al.Neuron|March 24, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS GeneAude Nicolas, Kevin P Kenna, Alan E Renton, et al.JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.Pageof 7