Katrin Rupprich

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Active since

2019

Affiliations

Hertie Institute for Clinical Brain Research(Current)

University of Tübingen

Essen University Hospital

Katrin Rupprich is an author at Hertie Institute for Clinical Brain Research specializing in neuromuscular pathology, genetic epidemiology, and neuromuscular disorders.

Top concepts

GeneticsMedicineNeurologyPathologyNeurogeneticsNeuropathologyGenetic EpidemiologyNeuromuscular DisordersNeuromuscular Pathology

Publications per year

2019–2020

Publications

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Marcus Deschauer, Holger Hengel, Katrin Rupprich et al. · Brain · 2020 · 33 citations · Full text

Distal Muscle Weakness, Collagen Vi, Mendelian Disorder +14

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Joohyun Park, Bianca Flores, Katalin Scherer et al. · Journal of Medical Genetics · 2019 · 16 citations · Full text

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