Pouria Mohammadi

A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy

Pouria Mohammadi, Morteza Heidari, Nejat Mahdieh et al. · Acta Neurologica Belgica · 2021 · 22 citations

Life Sciences, Genetics, Neurology +11

Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin et al. · Brain · 2023 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene

Ali Reza Tavasoli, Elmira Haji Esmaeil Memar, Mahmoud Reza Ashrafi et al. · Journal of Molecular Neuroscience · 2022 · 15 citations

Life Sciences, Genetics, Molecular Genetics +17

Whole‐exome sequencing identified first homozygous frameshift variant in the <i>COLEC10</i> gene in an Iranian patient causing 3MC syndrome type 3

Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi et al. · Molecular Genetics & Genomic Medicine · 2021 · 14 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of a novel missense c.386G &gt; A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

Pouria Mohammadi, Mohammad Ali Daneshmand, Nejat Mahdieh et al. · Acta Neurologica Belgica · 2020 · 11 citations

Life Sciences, Genetics, Molecular Genetics +11