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Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
Röeben, B.* et al.: Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function. Orphanet J. Rare Dis. 12:135 (2017)
Altmann, J.* et al.: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: Data from the German mitoNET registry. J. Neurol. 263, 961-972 (2016)
Synofzik, M.* et al.: SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large scale multi-centre study. Brain 139, 1378-1393 (2016)
Wolf, B.* et al.: Inducing differentiation of premalignant hepatic cells as a novel therapeutic strategy in hepatocarcinoma. Cancer Res. 76, 5550-5561 (2016)
Obayashi, M.* et al.: Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. J. Neurol. Neurosurg. Psychiatr. 86, 986-995 (2015)
Synofzik, M.* ; Kernstock, C.* ; Haack, T.B. & Schöls, L.*: Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations. J. Neurol. Neurosurg. Psychiatr. 86, 580-581 (2015)
Bürk, K.* et al.: A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Eur. J. Med. Genet. 57, 207-211 (2014)
Synofzik, M.* et al.: PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137, 69-77 (2014)
Synofzik, M.* et al.: Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am. J. Hum. Genet. 95, 689-697 (2014)
van der Zee, J.* et al.: Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol. 128, 397-410 (2014)
Burbulla, L.F.* et al.: Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: Functional impact of disease-related variants on mitochondrial homeostasis. Hum. Mol. Genet. 19, 4437-4452 (2010)