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Neurogenetics|June 2, 2011
Call for participation in the neurogenetics consortium within the Human Variome ProjectAndrea Haworth, Lars Bertram, Paola Carrera, et al.European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.Scientific Reports|July 29, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in SpainRafael Sivera, Marina Frasquet, Vincenzo Lupo, et al.Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.Human Mutation|August 6, 2013
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academiaCatherine L Bladen, Karen Rafferty, Volker Straub, et al.Pageof 12