Neda Mazaheri

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 106 citations · Full text

Life Sciences, Neurology, Neuroscience +17

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher et al. · Nature Communications · 2020 · 100 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri et al. · The American Journal of Human Genetics · 2017 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Jaya Punetha, Céline Zheng et al. · The American Journal of Human Genetics · 2019 · 58 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky et al. · Neurology · 2018 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17