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Annals of Clinical and Translational Neurology|May 12, 2017
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathyMaie Walsh, Katrina M Bell, Belinda Chong, et al.Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformationIne Hoogwijs, Simone A Mandelstam, George McGillivray, et al.Human Molecular Genetics|May 10, 2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotypeIvo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, et al.Human Molecular Genetics|February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsTimothy E Green, Joshua E Motelow, Mark F Bennett, et al.Journal of Neurology|April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levelsEppie M Yiu, Geneieve Tai, Roger E Peverill, et al.Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.American Journal of Human Genetics|March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.Pageof 16