Mohammad Yahya Vahidi Mehrjardi

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 68 citations · Full text

Circulating microRNA-122, microRNA-126-3p and microRNA-146a are associated with inflammation in patients with pre-diabetes and type 2 diabetes mellitus: A case control study

Fahime Zeinali, Seyed Mohsen Aghaei Zarch, Alireza Jahan-Mihan et al. · PLoS ONE · 2021 · 68 citations · Full text

Immunology, Inflammation, Metabolic Syndrome +16

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

Brain Development, Exome Sequencing, Synaptic Transmission +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

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan et al. · Brain · 2019 · 50 citations · Full text