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9 Records found.
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1.
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)
2.
Gorza, M.: Molecular dissection of SON's interactome reveals the molecular link to splicing. München, Technische Universität, Fakultät Wissenschaftszentrum Weihenstephan, Diss., 2014, 147 S.
3.
Haack, T.B. et al.: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)
4.
Iuso, A. et al.: Impairment of Drosophila orthologs of the human orphan protein c19orf12 induces bang sensitivity and neurodegeneration. PLoS ONE 9:e89439 (2014)
5.
Kucharska, J. et al.: Cyr61 activates retinal cells and prolongs photoreceptor survival in rd1 mouse model of retinitis pigmentosa. J. Neurochem. 130, 227-240 (2014)
6.
Synofzik, M.* et al.: Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am. J. Hum. Genet. 95, 689-697 (2014)
7.
Texier, Y. et al.: Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry. Mol. Cell. Proteomics 13, 1382-1391 (2014)
8.
Gai, X.* et al.: Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93, 482-495 (2013)
9.
Haack, T.B. et al.: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)