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Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
American Journal of Human Genetics|December 24, 2013
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationSabrina Dusi, Lorella Valletta, Tobias B Haack, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)Allison Gregory, Mitesh Lotia, Suh Young Jeong, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Brain : a Journal of Neurology|May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationSusan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
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