Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Aida Ghasemi"'
Autor:
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsib
Externí odkaz:
https://doaj.org/article/0c457896fc3643a7a402678d0e4d1664
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants
Publikováno v:
Neuromuscular Disorders. 33:295-301
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96abc331115cf52b197297cd9a8280f7
https://doi.org/10.1016/j.nmd.2023.02.001
https://doi.org/10.1016/j.nmd.2023.02.001
Publikováno v:
Molecular Syndromology. :1-11
Introduction: Homozygous and compound heterozygous variants in GJC2, the gene encoding connexin-47 protein, cause Pelizaeus-Merzbacher-like disease type 1 or hypomyelinating leukodystrophy 2 (HLD2), a severe infantile-onset hypomyelinating leukodystr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e51586fa0c52755783874ea5693fdbf
https://doi.org/10.1159/000529678
https://doi.org/10.1159/000529678
Autor:
Atefeh Davarzani, Amin Shahrokhi, Seyyed Saleh Hashemi, Aida Ghasemi, Mohammad Reza Habibi Kavashkohei, Niloofar Farboodi, Anthony E. Lang, Maryam Ghiasi, Mohammad Rohani, Afagh Alavi
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(6)
Lafora disease (LD) is a severe form of progressive myoclonus epilepsy characterized by generalized seizures, myoclonus, intellectual decline, ataxia, spasticity, dysarthria, visual loss, and in later stages, psychosis and dementia. To date, mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be22ae20ed414dca78b949a37020fb8
https://pubmed.ncbi.nlm.nih.gov/35034233
https://pubmed.ncbi.nlm.nih.gov/35034233
Publikováno v:
Journal of Plant Protection Research. 50:416-422
Physiological and Biochemical Effect of Pyriproxyfen on Indian Meal MothPlodia Interpunctella(Hübner) (Lepidoptera: Pyralidae)Insect growth regulators generally have a selective effect on the target insects and have practically no apparent side effe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f915d3c62d1cec6017f62ff6ff9f48e
https://doi.org/10.2478/v10045-010-0070-9
https://doi.org/10.2478/v10045-010-0070-9