Manuela Pendziwiat

发表

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.