Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Motahareh Sheikh‐Hosseini"'
Autor:
Mehdi Hashemipour, Mostafa Neissi, Mahsa Rashid, Karim Sevari, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 3, Pp 536-540 (2024)
Introduction: Christianson syndrome is a neurological disorder characterized by recurrent seizures resulting from abnormal brain neuron discharge. Primarily emerging in childhood, Christianson syndrome is marked by a complex clinical presentation int
Externí odkaz:
https://doaj.org/article/f778393495f1420294f060abe01d6847
Autor:
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
Abstract Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with
Externí odkaz:
https://doaj.org/article/6b7989370270443b8948f18fe9fb778c
Autor:
Mostafa Neissi, Javad Mohammadi-Asl, Misagh Mohammadi-Asl, Mojdeh Roghani, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran
Publikováno v:
Cell Journal, Vol 26, Iss 6, Pp 392-397 (2024)
This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineuralhearing loss (HL) and retinitis pigmentosa (RP), often associated with the USH2A gene. Focusing on an Iranian familyexhibiting USH2 sympto
Externí odkaz:
https://doaj.org/article/9660720922d54b10a7849b220925e1ec
Autor:
Mehdi Hashemipour, Ayad Neissi, Mostafa Neissi, Misagh Mohammadi-Asl, Motahareh Sheikh-Hosseini, Sasan Bavi, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 2, Pp 352-356 (2024)
Background: Intellectual disabilities encompass a spectrum of neurodevelopmental disorders profoundly impacting an individual's cognitive abilities, adaptive behaviors, and communication skills. This article delves into the complex challenges encount
Externí odkaz:
https://doaj.org/article/b3516dca4eac4955a5646f50a8083e3c
Autor:
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Misagh Mohammadi‐Asl, Adnan Issa Al‐Badran, Mojdeh Roghani, Javad Mohammadi‐Asl, Kamele Jorfi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 10, Pp n/a-n/a (2024)
Key Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient. The proband's symptoms—including se
Externí odkaz:
https://doaj.org/article/4518447d5e9049adb1c8fc4f78c59515
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 1, Pp 170-174 (2024)
Autism spectrum disorder has evolved from a rare childhood-onset disorder to a widely acknowledged, extensively researched, and heterogeneous lifelong condition. This study focuses on an Iranian pedigree affected by autism spectrum disorder. By emplo
Externí odkaz:
https://doaj.org/article/52032793fa944b49aa54b423ae2a88e6
Publikováno v:
Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized
Externí odkaz:
https://doaj.org/article/733f23a80c5f4c478c38579feaf34e1c
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-4 (2022)
Abstract Background Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders characterized by congenital contractures of the distal limb joints without a neuromuscular disease. This case study seeks to report an aff
Externí odkaz:
https://doaj.org/article/44770f27999a4d7aae666fed106c13a2
Publikováno v:
International Journal of Biomedicine, Vol 11, Iss 4, Pp 594-597 (2021)
Canavan disease is an autosomal recessive genetic disease and rare fatal childhood neurological disorder caused by mutations in the ASPA gene, which resulted in a catalytic deficiency of the ASPA enzyme that catalyzes the hydrolysis of NAA into aspar
Externí odkaz:
https://doaj.org/article/8fe8a54d246e49829df6c48f0d026032
Autor:
Mostafa Neissi, Husham Khirullah Abdulzahra, Motahareh Sheikh-Hosseini, Hadideh Mabudi, Javad Mohammadi-Asl, Raed Abdulelah Al-Badran
Publikováno v:
International Journal of Biomedicine, Vol 12, Iss 1, Pp 164-166 (2022)
Hereditary hearing loss is the most common sensory neural disorder, which has been revealed to have high genetic heterogeneity. Herein, we aimed to figure out the underlying genetics of the subject from an Iranian deaf family. Next-generation sequenc
Externí odkaz:
https://doaj.org/article/8514a31c6b964ce7b45b655e89ec5086