PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
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1.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
2.
Vill, K.* et al.: SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum. Genet. 137, 911-919 (2018)
3.
Vill, K.* et al.: A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Mov. Disord. 32, 797-799 (2017)
4.
Vill, K.* et al.: Early-onset myopathies: Clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany. J. Neuromuscul. Dis. 4, 315-325 (2017)
5.
Zech, M. et al.: Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am. J. Hum. Genet. 99, 1377-1387 (2016)