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Pottier, C.* et al.: Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: A genome-wide association study. Lancet Neurol. 17, 548-558 (2018)
Röeben, B.* et al.: SERAC1 deficiency causes complicated HSP: Evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39-47 (2018)
Bublitz, S.K.* et al.: Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin. Genet. 92, 561-562 (2017)
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
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)
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)
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)
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)
Heni, M. et al.: Evidence for altered transport of insulin across the blood-brain barrier in insulin-resistant humans. Acta Diabetol. 51, 679-681 (2013)
Sartorius, T. et al.: Insulin action in the brain depends on whole-body insulin sensitivity. Diabetologia 56, S297 (2013)