Rudolf Korinthenberg

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 410 citations

Neuroregeneration, Molecular Neuroscience, Giant Axonal Neuropathy +11

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Obesity after childhood craniopharyngioma - German multicenter study on pre-operative risk factors and quality of life

Hermann L. Müller, Katharina Bueb, Ute Bartels et al. · Klinische Pädiatrie · 2001 · 267 citations

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 222 citations · Full text

Expansion of the genotypic and phenotypic spectrum in patients with <i>KRAS</i> germline mutations

Martin Zenker, Katarina Lehmann, D. Hansmann et al. · Journal of Medical Genetics · 2006 · 201 citations · Full text