Annemarie Fock

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 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Leroy ten Dam, Wendy S. Frankhuizen, Wim H.J.P. Linssen et al. · Clinical Genetics · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome

Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz et al. · American Journal of Medical Genetics Part A · 2020 · 28 citations · Full text

Medicine, Genetics, Neurology +17

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Xenia Stalpers, Aad Verrips, Bwee Tien Poll‐The et al. · Neuromuscular Disorders · 2013 · 19 citations

Life Sciences, Genetics, Neurology +11