PuSH - Publication Server of Helmholtz Zentrum München

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Röeben, B.* et al.: SERAC1 deficiency causes complicated HSP: Evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39-47 (2018)
Banka, S.* et al.: Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations. Mol. Genet. Metab. 113, 301-306 (2014)
Zech, M. et al.: Niemann-pick C disease gene mutations and age-related neurodegenerative disorders. PLoS ONE 8:e82879 (2013)