Mona Grimmel

<i>KCNC1</i>‐related disorders: new de novo variants expand the phenotypic spectrum

Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich et al. · Annals of Clinical and Translational Neurology · 2019 · 65 citations · Full text

Progressive Myoclonus Epilepsy, Genetics, Pathology +18

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 59 citations · Full text

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ralf A. Husain, Mona Grimmel, Matias Wagner et al. · The American Journal of Human Genetics · 2020 · 50 citations · Full text

Neurodegenerative Diseases, Allelic Variant, Neurological Disorder +12

Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex

Ruth Falb, Amelie J. Müller, Wolfram Klein et al. · Journal of Medical Genetics · 2021 · 41 citations · Full text

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra Donkervoort et al. · Nature Communications · 2022 · 41 citations · Full text