Marius Kuhn

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 194 citations

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

Marius Kuhn, Dieter Gläser, Pushpa Raj Joshi et al. · Journal of Neurology · 2016 · 62 citations

Sequencing, Medicine, Genetics +7

Homozygosity for the common GAA gene splice site mutation c.-32-13T&gt;G in Pompe disease is associated with the classical adult phenotypical spectrum

Olimpia Musumeci, Andrea Thieme, Kristl G. Claeys et al. · Neuromuscular Disorders · 2015 · 43 citations

Pompe Disease, Allelic Variant, Mendelian Disorder +7

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

Katharina Vill, Wolfgang Müller‐Felber, Dieter Gläser et al. · Human Genetics · 2018 · 28 citations · Full text

Developmental Anomaly, Rare Diseases, Sensory Neuropathy +14

Aggressiveness of SJL/J lymphomas correlates with absence of H-2Ds antigens.

Edward F. Rosloniec, Marius Kuhn, Carol Genyea et al. · The Journal of Immunology · 1984 · 26 citations

Clinical Immunology, Cell Therapy, Immunodeficiencies +18