Concepedia

Neda Mazaheri

NM

19

Publications

723

Citations

15

H-Index

2017

Active since

Affiliations

Shahid Chamran University of Ahvaz(Current)

University College London

Ahvaz Jundishapur University of Medical Sciences

National Hospital for Neurology and Neurosurgery

St George's, University of London

Neda Mazaheri is an author at Shahid Chamran University of Ahvaz specializing in medicine, genetics, and neuropathology.

ORCID

Top concepts

Publications per year

2017–2022

19

Publications

19

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

, , +15

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 · 91 citations · Full text

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 · 66 citations · Full text

, , +7

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 · 57 citations · Full text

, , +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

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