PuSH - Publication Server of Helmholtz Zentrum München

90 Records found.
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1.
Vetrivel, S. et al.: Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. Exp. Eye Res., accepted (2019)
2.
Altmann, J.* et al.: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: Data from the German mitoNET registry. J. Neurol. 263, 961-972 (2016)
3.
Fuchs, H. et al.: The first Scube3 mutant mouse line with pleiotropic phenotypic alterations. Genes Genomes Genetics G3 6, 4035-4046 (2016)
4.
Haack, T.B. et al.: Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am. J. Hum. Genet. 99, 735-743 (2016)
5.
Klopstock, T.* ; Klopstock, B.* & Prokisch, H.: Mitochondrial replacement approaches: Challenges for clinical implementation. Genome Med. 8:126 (2016)
6.
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
7.
Kumar, S.* et al.: Generation and standardized, systemic phenotypic analysis of Pou3f3L423P mutant mice. PLoS ONE 11:e0150472 (2016)
8.
Peleg, S.* et al.: Life span extension by targeting a link between metabolism and histone acetylation in Drosophila. EMBO Rep. 17, 455-469 (2016)
9.
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)
10.
Zimprich, A. et al.: Serum response factor (SRF) ablation interferes with acute stress-associated immediate and long-term coping mechanisms. Mol. Neurobiol. 54, 8242–8262 (2016)
11.
Distelmaier, F.* et al.: MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy. Neurogenetics 16, 319-323 (2015)
12.
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
13.
Hrabě de Angelis, M. et al.: Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nat. Genet. 47, 969-978 (2015)
14.
Kessler, T.* et al.: ADAMTS-7 inhibits re-endothelialization of injured arteries and promotes vascular remodeling via cleavage of thrombospondin-1. Circulation 131, 1191-1201 (2015)
15.
Kuepper, C.* et al.: Familial dyskinesia with facial myokymia due to ADCY5 mutation: Treatment with propranolol. Eur. J. Neurol. 22, 30 (2015)
16.
Lee, S.* et al.: Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status of hearing. Hum. Mol. Genet. 24, 7286-7294 (2015)
17.
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)
18.
Saarikangas, J.* et al.: MIM-induced membrane bending promotes dendritic spine initiation. Dev. Cell 33, 644-659 (2015)
19.
Schludi, M.H.* et al.: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol. 130, 537-555 (2015)
20.
Schludi, M.H.* et al.: Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol. 130, 557-558 (2015)