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» Authors » Mohammad Miryounesi

Mohammad Miryounesi

Explore the profile of Mohammad Miryounesi including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 64
Citations 220
Followers 0
Related Specialties
Neurology
Genetics
General Medicine
Top 10 Co-Authors
Soudeh Ghafouri-Fard
Mohammad-Reza Ghasemi
Hossein Sadeghi
Farzad Hashemi-Gorji
Reza Mirfakhraie
Sahand Tehrani Fateh
Feyzollah Hashemi-Gorji
Majid Fardaei
Shadab Salehpour
Vahid Reza Yassaee
Published In
Neurol Sci
Int J Mol Cell Med
J Pediatr Endocrinol Metab
BMC Med Genomics
Gene
Affiliations
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Recent Articles
11.
Novel variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review
Ghasemi M, Tehrani Fateh S, Hashemi-Gorji F, Sheikhi Nooshabadi M, Alijanpour S, Mardi A, et al.
Epilepsy Behav Rep . 2024 Aug; 27:100702. PMID: 39188779
The gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of...
12.
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review
Elahi Vahed I, Tehrani Fateh S, Kamali M, Hashemi-Gorji F, Esmaeilzadeh Z, Sadeghi H, et al.
Mol Genet Metab Rep . 2024 Aug; 40:101125. PMID: 39157536
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the gene, which...
13.
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Ghasemi M, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, et al.
BMC Med Genomics . 2024 Aug; 17(1):196. PMID: 39103847
Background And Objective: Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled...
14.
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Nakamura Y, Shimada I, Maroofian R, Falabella M, Zaki M, Fujimoto M, et al.
Brain . 2024 Jul; 147(11):3949-3967. PMID: 39082157
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have...
15.
Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy
Babaee M, Nilipour Y, Alijanpour S, Ghasemi A, Taghdiri M, Sarraf P, et al.
Neuropathology . 2024 Jun; 45(1):48-54. PMID: 38922716
Glycogen storage diseases (GSDs) are a group of metabolic disorders affecting glycogen metabolism, with polyglucosan body myopathy type 1 (PGBM1) being a rare variant linked to RBCK1 gene mutations. Understanding...
16.
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
Moghimi P, Hashemi-Gorji F, Jamshidi S, Tehrani Fateh S, Salehpour S, Sadeghi H, et al.
Biochem Genet . 2024 Apr; PMID: 38619706
Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders characterized by clinical, locus, and allele heterogeneity. This study aims to investigate the phenotype and genotype spectrum of...
17.
Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome
Norouzi Rostami F, Sadeghi H, Hashemi-Gorji F, Tehrani Fateh S, Mirfakhraie R, Karimzadeh P, et al.
Heliyon . 2024 Mar; 10(6):e27434. PMID: 38501011
Background And Aims: The occurrence of thiamine metabolism dysfunction syndrome (THMD), a rare autosomal recessive condition, may be linked to various mutations found in the and genes. The disease chiefly...
18.
The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum
Shokrollahi N, Tehrani Fateh S, Nouri M, Behnam A, Moghimi P, Sadeghi H, et al.
Neurol Sci . 2024 Feb; 45(8):3979-3987. PMID: 38421525
Background: The ultra-rare autosomal recessive genetic disorder, You-Hoover-Fong Syndrome (YHFS), is caused by defects in the TELO2 gene and is characterized by intellectual disability, developmental delay, and ocular impairments. This...
19.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
Ghasemi M, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, et al.
BMC Med Genomics . 2024 Feb; 17(1):51. PMID: 38347586
Background: Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some...
20.
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases
Tehrani Fateh S, Mohammad Zadeh N, Salehpour S, Hashemi-Gorji F, Omidi A, Sadeghi H, et al.
BMC Med Genomics . 2024 Jan; 17(1):20. PMID: 38216990
Background: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of...