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41.
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)
42.
Müller, S.H.* et al.: Genome-wide association study in essential tremor identifies three new loci. Brain 139, 3163-3169 (2016)
43.
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)
44.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
45.
Fischer, D.* et al.: A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. Brain 137:e286 (2014)
46.
Haack, T.B. et al.: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain 137:e295 (2014)
47.
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)
48.
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)
49.
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)
50.
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)
51.
Steenweg, M.E.* et al.: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 135, 1387-1394 (2012)
52.
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)
53.
Piaton, G.* et al.: Class 3 semaphorins influence oligodendrocyte precursor recruitment and remyelination in adult central nervous system. Brain 134, 1156-1167 (2011)
54.
Rolyan, H.* et al.: Telomere shortening reduces Alzheimer's disease amyloid pathology in mice. Brain 134, 2044-2056 (2011)
55.
de Kovel, C.G.F.* et al.: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32 (2010)
56.
Flinn, L.* et al.: Complex I deficiency and dopaminergic neuronal cell loss in parkin-deficient zebrafish (Danio rerio). Brain 132, Part 6, 1613-1623 (2009)
57.
Asmus, F.* et al.: Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 130, 2736-2745 (2007)
58.
Gempel, K.* et al.: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130, 2037-2044 (2007)
59.
Horvath, R.* et al.: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-1684 (2006)
60.
Berg, D.* et al.: Type and frequency of mutations in the LRRK2 gene in familial ans sporadic Parkinson's disease. Brain 128, 3000-3011 (2005)
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