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Van Bergen, N.J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 142, 50-58 (2019)
Vaz, F.M.* et al.: Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 142, 3382-3397 (2019)
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
Distelmaier, F.* ; Haack, T.B. ; Wortmann, S.B. ; Mayr, J.A.* & Prokisch, H.: Treatable mitochondrial diseases: Cofactor metabolism and beyond. Brain 140:e11 (2017)
Robak, L.A.* et al.: Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain 140, 3191-3203 (2017)
Brenner, D.* et al.: NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139:e28 (2016)
Holzerova, E. et al.: Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346-354 (2016)
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)
Marroquin, N.* et al.: Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: No evidence for pathogenicity of the p.P34S variant. Brain 139, E8-U10 (2016)
Müller, S.H.* et al.: Genome-wide association study in essential tremor identifies three new loci. Brain 139, 3163-3169 (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)
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
Fischer, D.* et al.: A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. Brain 137:e286 (2014)
Haack, T.B. et al.: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain 137:e295 (2014)
Müller, K.* et al.: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain 137:e309 (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)
Hayflick, S.J.* et al.: Beta-propeller protein-associated neurodegeneration: A new X-linked dominant disorder with brain iron accumulation. Brain 136, 1708-1717 (2013)
Stogmann, E.* et al.: Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2. Brain 136, 1155-1160 (2013)
Steenweg, M.E.* et al.: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 135, 1387-1394 (2012)
Gerards, M.* et al.: Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: New function for an old gene. Brain 134, 210-219 (2011)