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1.
AlAbdi, L.* et al.: Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain, DOI: 10.1093/brain/awac364 (2022)
2.
Ban, R. et al.: The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain, DOI: 10.1093/brain/awac344 (2022)
3.
Erdmann, H.* et al.: Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. Brain, DOI: 10.1093/brain/awac336 (2022)
4.
Spitzer, H. et al.: Interpretable surface-based detection of focal cortical dysplasias: A Multi-centre Epilepsy Lesion Detection study. Brain, DOI: 10.1093/brain/awac224 (2022)
5.
Stenton, S. et al.: DNAJC30 defect: A frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain 145, 1624-1631 (2022)
6.
Sundaram, S.M.* et al.: Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency. Brain, DOI: 10.1093/brain/awac243 (2022)
7.
Giesert, F.: c-Abl phosphorylation primes PARIS for neurodegeneration. Brain 144, 3555-3557 (2021)
8.
Invernizzi, F.* et al.: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3. Brain 144:e74 (2021)
9.
Kaiyrzhanov, R.* et al.: Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain 144, e30 (2021)
10.
Macrini, C.* et al.: Features of MOG required for recognition by patients with MOG antibody-associated disorders. Brain 144, 2375-2389 (2021)
11.
Mirza-Schreiber, N. et al.: Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain, DOI: 10.1093/brain/awab360 (2021)
12.
Monfrini, E.* et al.: HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia. Brain 144, 2610-2615 (2021)
13.
Neuray, C.* et al.: Early-onset phenotype of bi-allelic GRN mutations. Brain 144:e22 (2021)
14.
Riedhammer, K.M.* et al.: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain 144, 411-419 (2021)
15.
Zech, M. et al.: MATR3 haploinsufficiency and early-onset neurodegeneration. Brain 144:e72 (2021)
16.
Mak, C.C.Y.* et al.: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020)
17.
Zhou, J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses (vol 142, pg 50, 2019). Brain 143:e15 (2020)
18.
Zhou, J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 143:e8 (2020)
19.
Esposito, A.* et al.: Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain 142, 3876-3891 (2019)
20.
Forouhideh, Y.* et al.: A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain 142, e4 (2019)