PuSH - Publication Server of Helmholtz Zentrum München

Journal browsing

61 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
▮◀ ◀◀ 1 ... 2 ... 3 ... 4 ... ▶▶ ▶▮
Lay all publications on this page into basket
1.
Bremer, J.* et al.: Mutual reinforcement of lymphotoxin-driven myositis and impaired autophagy in murine muscle. Brain, DOI: 10.1093/brain/awaf260 (2025)
2.
Erdmann, H.* et al.: Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. Brain 149, 993-1006 (2025)
3.
Fiorini, C.* et al.: Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy. Brain:awaf422 (2025)
4.
Jacob, M.* et al.: Deciphering DST-associated disorders: Biallelic variants affecting DST-b cause a congenital myopathy. Brain 149, 653-667 (2025)
5.
Merkevicius, K.* et al.: The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency. Brain:awaf430 (2025)
6.
Peymani, F. et al.: Pleiotropic effects of MORC2 derive from its epigenetic signature. Brain:awaf159 (2025)
7.
Zech, M. et al.: Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. Brain 148, 2827-2846 (2025)
8.
Binks, S.N.M.* et al.: Novel risk loci in LGI1-antibody encephalitis: Genome-wide association study discovery and validation cohorts. Brain 148, 737-745 (2024)
9.
Blickhaeuser, B. et al.: Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain 147, 1967-1974 (2024)
10.
Souza Oliveira, D.* et al.: A direct spinal cord-computer interface enables the control of the paralysed hand in spinal cord injury. Brain, DOI: 10.1093/brain/awae088 (2024)
11.
Joza, S.* et al.: Progression of clinical markers in prodromal Parkinson's disease and dementia with Lewy bodies: a multicentre study. Brain 146, 3258-3272 (2023)
12.
Nasca, A.* et al.: Variants in ATP5F1B are associated with dominantly inherited dystonia. Brain 146, 2730-2738 (2023)
13.
AlAbdi, L.* et al.: Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain 146, 1373-1387 (2022)
14.
Ban, R. et al.: The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain 145, e125-e127 (2022)
15.
Erdmann, H.* et al.: Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. Brain 146, 1388-1402 (2022)
16.
Spitzer, H. et al.: Interpretable surface-based detection of focal cortical dysplasias: A Multi-centre Epilepsy Lesion Detection study. Brain 145, 3859-3871 (2022)
17.
Stenton, S. et al.: DNAJC30 defect: A frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain 145, 1624-1631 (2022)
18.
Sundaram, S.M.* et al.: Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency. Brain 145, 4264-4274 (2022)
19.
Giesert, F.: c-Abl phosphorylation primes PARIS for neurodegeneration. Brain 144, 3555-3557 (2021)
20.
Invernizzi, F.* et al.: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3. Brain 144:e74 (2021)
▮◀ ◀◀ 1 ... 2 ... 3 ... 4 ... ▶▶ ▶▮