Gholamreza Shariati

Biallelic mutations in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function

Lydia Green, Noémie Hamilton, Marilena Elpidorou, Reza Maroofian et autres

gb, Égypte, ee, no, om, us, ir, in, ca, fr, kw (code pays fourni par la source)

Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses

Sajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, Pooneh Nikuei et autres

es, ir, us, gb, ru (code pays fourni par la source)

Zygosity‐Dependent Phenotypic Spectrum of RELN ‐Related Disorders: 10 New Patients and Genotype–Phenotype Correlations Across 48 Kindreds

Sajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, Mohammad Salimi Asl et autres

lead to a range of neurodevelopmental phenotypes, from autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) (LIS2) to autosomal dominant focal epilepsies. We carried out exome sequencing (ES) on 10 affected individuals from eight unrelated Iranian families with consanguinity. Nine distinct variants were …

ir, de, us, gb (code pays fourni par la source)

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian et autres

OBJECTIVE: Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a …

de, gb, us, ir, ca, Égypte, qa, in, lu, hu, tr, au, ee, il, fr, nl, Algérie, ae, se, sa, pl (code pays fourni par la source)

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran

Rezvan Zabihi, Mina Zamani, Niloofar Chamanrou, Jawaher Zeighami et autres

Genetic skeletal disorders (GSDs) comprise a diverse group of disorders that affect bone development and homeostasis. In some areas of Iran, GSD occurs more frequently than in other places for still unknown reasons. The aim of this study was to characterize the …

ir (code pays fourni par la source)

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients

Vicente Quiroz, Julian E. Alecu, Umar Zubair, Katerina Bernardi et autres

Epilepsy-dyskinesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrence of epilepsy and movement disorders. Despite their increasing clinical recognition, the molecular and clinical spectrum of EDS remains poorly understood. While numerous genetic aetiologies have been implicated, systematic …

us, ca, om, de, au, mx, cl, br, gb, cn, my, it, gr, in, sk, be, nz, es, tr, tw, Égypte, Tunisie, fr (code pays fourni par la source)

Effect of HER2 Ile655Val polymorphism on the response to trastuzumab treatment in HER2-positive breast cancer patients

Zohreh Gheibipour, Tina Vosoughi, Gholamreza Shariati, Mehran Hoseinzadeh et autres

Abstract Introduction HER2-positive breast cancer (HPBC) occurs in 20–25% of breast cancer patients and is characterized by a poor prognosis. Trastuzumab is a key drug for treating HPBC; however, resistance to trastuzumab is challenging in patients. This study aimed to investigate the …

ir (code pays fourni par la source)

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series

J. Robert Harkness, John McDermott, Shea Marsden, Peter Jamieson et autres

BACKGROUND: The reasons why some individuals have severe neuropathy following an infection are not known. Through the agnostic screening of children with acute axonal neuropathy after an infection, we identified several families with biallelic variants in RCC1. We aimed to describe the …

gb, cy, tr, de, cz, sk, ca, us, ir, sa (code pays fourni par la source)

Deciphering DST -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich et autres

The dystonin gene (DST) encodes three major isoforms, DST-a, DST-b and DST-e. Biallelic pathogenic variants in DST have previously been associated with two allelic monogenic disorders: hereditary sensory and autonomic neuropathy type VI (caused by a loss of DST-a) and epidermolysis bullosa …

pl, de, gb, at, fr, es, ir, us, il, se, ca (code pays fourni par la source)

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin et autres

The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants in tRNA-modification enzymes have been implicated in a wide range of human neurodevelopmental and neurological disorders. However, the molecular basis for many of these disorders remains …

gb, us, de, pk, ca, Maroc, fr, es, nl, tr, se, dk, ir, in, sa, my (code pays fourni par la source)

Genetic Risk of Axonal Neuropathy Following Infection

J. Robert Harkness, John McDermott, Shea Marsden, Peter Jamieson et autres

gb, cy, tr, de, cz, sk, ca, ir, sa, gr (code pays fourni par la source)

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, R Maroofian et autres

Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe …