Selina Reich

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 194 citations · Full text

Life Sciences, Developmental Biology, Genetics +11

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Andreas Traschütz, Andrea Cortese, Selina Reich et al. · Neurology · 2021 · 164 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients

Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz et al. · Annals of Neurology · 2020 · 77 citations · Full text

Life Sciences, Genetics, Neurology +16

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Stefanie N. Hayer, Tine Deconinck, Benjamin Bender et al. · Orphanet Journal of Rare Diseases · 2017 · 67 citations · Full text

Life Sciences, Genetics, Neurology +16

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9