Concepedia

Maryam Sedghi

MS

Statistics

Publications

21

Citations

646

H-Index

15

Active since

2012

Affiliations

Isfahan University of Medical Sciences(Current)

Alzahra University

University of Skövde

University College London

Sahlgrenska University Hospital

Maryam Sedghi is an author at Isfahan University of Medical Sciences specializing in genetics, medical genetics, and molecular genetics.

Publications per year

2012–2021

21

Publications

21

Mutations in<i>GMPPB</i>cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu et al. · Brain · 2015 · 142 citations · Full text

, , +16

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Pedro M. Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri et al. · Journal of Neurology Neurosurgery & Psychiatry · 2016 · 69 citations · Full text

, , +17

An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou et al. · Brain · 2020 · 55 citations · Full text

, , +17

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

Richard G. Lee, Maryam Sedghi, Mehri Salari et al. · Neurology Genetics · 2018 · 46 citations · Full text

, , +17

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

Keivan Basiri, Katsiaryna Belaya, Wei Wei Liu et al. · Neuromuscular Disorders · 2013 · 39 citations · Full text

, , +15

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