Eva Janzen

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

Seyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres‐Benito et al. · The American Journal of Human Genetics · 2016 · 164 citations · Full text

Human Protective Modifiers, Spinal Cord Injury, Genetics +6

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis

Eva Janzen, Natalia Mendoza-Ferreira, Seyyedmohsen Hosseinibarkooie et al. · Brain · 2018 · 56 citations · Full text

Spinal Cord Injury, Chp1 Knockdown, Chp1 Levels +15

Genetic heterogeneity in Pakistani microcephaly families

Muhammad Sajid Hussain, Syeda Marriam Bakhtiar, Muhammad Farooq et al. · Clinical Genetics · 2012 · 52 citations

Mcph Families, Mendelian Disorder, Genetic Disorder +13

Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models

Jannik M. Buettner, Josiane K. Sime Longang, Florian Gerstner et al. · iScience · 2021 · 40 citations · Full text

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen et al. · Neurology Genetics · 2018 · 21 citations · Full text