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Neuromuscular Disorders : NMD|April 23, 2015
Phenotypic variability of TRPV4 related neuropathiesTeresinha Evangelista, Boglarka Bansagi, Angela Pyle, et al.Molecular Neurodegeneration|April 17, 2015
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodiesDavide Chiasserini, Silvia Paciotti, Paolo Eusebi, et al.Nature Communications|May 2, 2026
Genetic landscape of adult executive function reveals a cell-type-specific developmental originMd Shafiqur Rahman, Azra Frkatović-Hodžić, Jelle van den Ameele, et al.Nature Genetics|January 29, 2008
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypesLynsey M Cree, David C Samuels, Susana Chuva de Sousa Lopes, et al.Archives of Neurology|January 16, 2008
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth diseaseTimothy Harrower, Joanna D Stewart, Gavin Hudson, et al.Mutation Research|March 26, 2003
Changes in the human mitochondrial genome after treatment of malignant diseaseTheresa M Wardell, Elaine Ferguson, Patrick F Chinnery, et al.Cell|June 6, 2015
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for DevelopmentWalfred W C Tang, Sabine Dietmann, Naoko Irie, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.Nucleic Acids Research|August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseasesThiloka E Ratnaike, Daniel Greene, Wei Wei, et al.Annals of Neurology|October 2, 2003
Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor, Martina T McDonnell, Emma L Blakely, et al.Pageof 37