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Neurology. Genetics|September 24, 2016
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndromeThanes Termglinchan, Seito Hisamatsu, Junko Ohmori, et al.
Neurology. Genetics|May 24, 2017
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutationSandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, et al.
Neurology. Genetics|May 24, 2017
Genetic analysis of age at onset variation in spinocerebellar ataxia type 2K P Figueroa, Hilary Coon, Nieves Santos, et al.
Neurology. Genetics|September 2, 2016
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)Chantal Depondt, Simona Donatello, Myriam Rai, et al.
Neurology. Genetics|August 31, 2016
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2ADavid S Lynch, Nicholas W Wood, Henry Houlden
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
Neurology. Genetics|May 16, 2019
HTT haplogroups in Finnish patients with Huntington diseaseSusanna Ylönen, Jussi O T Sipilä, Marja Hietala, et al.
Neurology. Genetics|May 2, 2019
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.
Neurology. Genetics|May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZIlona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.
Neurology. Genetics|March 7, 2022
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case ReportFrancesco Nicita, Lorena Travaglini, Francesco Bombelli, et al.
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