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Nature Genetics|November 3, 2025
Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancerSonia Boscenco, Jacqueline Tait-Mulder, Minsoo Kim, et al.
Brain : a Journal of Neurology|August 1, 2014
Genetic impact on cognition and brain function in newly diagnosed Parkinson's disease: ICICLE-PD studyCristina Nombela, James B Rowe, Sophie E Winder-Rhodes, et al.
American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathyRita Horvath, Elke Holinski-Feder, Vivienne C M Neeve, et al.
Lancet (London, England)|August 18, 2004
Risk of developing a mitochondrial DNA deletion disorderPatrick F Chinnery, Salvatore DiMauro, Sara Shanske, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey Shatunov, Montse Olivé, Zagaa Odgerel, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
Blood|July 19, 2011
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiencyRachel Emma Dickinson, Helen Griffin, Venetia Bigley, et al.
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