Maryam Sedghi

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 · 139 citations · Full text

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 · 66 citations · Full text

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 · 53 citations · Full text

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

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 · 38 citations · Full text