Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Ali-Reza Moslemi"'
Autor:
Maryam Sedghi, Ali‐Reza Moslemi, Montse Olive, Masoud Etemadifar, Behnaz Ansari, Jafar Nasiri, Leila Emrahi, Hamid‐Reza Mianesaz, Nigel G. Laing, Homa Tajsharghi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 11, Pp 2197-2204 (2019)
Abstract Background Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (AL
Externí odkaz:
https://doaj.org/article/1d6b4cc44bbb430d87cb5f6a657766d1
Autor:
Malgorzata Pokrzywa, Michaela Norum, Johan Lengqvist, Mehrnaz Ghobadpour, Saba Abdul-Hussein, Ali-Reza Moslemi, Homa Tajsharghi
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0142094 (2015)
An essential role for embryonic MyHC in foetal development has been found from its association with distal arthrogryposis syndromes, a heterogeneous group of disorders characterised by congenital contractions. The latter probably result from severe m
Externí odkaz:
https://doaj.org/article/762bc39a28de41239128e6873594ea49
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e72396 (2013)
Mutations in TPM2 result in a variety of myopathies characterised by variable clinical and morphological features. We used human and mouse cultured cells to study the effects of β-TM mutants. The mutants induced a range of phenotypes in human myobla
Externí odkaz:
https://doaj.org/article/d0e5b23367a444639221075d1a5d3469
Autor:
Carola Hedberg-Oldfors, Maria Falkenberg, Ali-Reza Moslemi, Niklas Darin, Bradley Peter, Gittan Kollberg, Bertil Macao, Vassili Kalbin, Anders Oldfors, Triinu Siibak
Publikováno v:
Neuromuscular Disorders
Mutations in the mitochondrial DNA polymerase gamma catalytic subunit (POLγA) compromise the stability of mitochondrial DNA (mtDNA) by leading to mutations, deletions and depletions in mtDNA. Patients with mutations in POLγA often differ remarkably
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::affff0501e4142e81e3a40c415939db5
https://doi.org/10.1016/j.nmd.2021.01.004
https://doi.org/10.1016/j.nmd.2021.01.004
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Autor:
Eudeline Alix, Anne-Lise Poulat, Nilay Güneş, Yvonne G. Weber, Maryam Najafi, José M. Serratosa, Ehsan Ghayoor Karimiani, Kaya Bilguvar, Tarek Omar, Katia Hardies, Dana Craiu, Hande Caglayan, Stéphanie Baulac, Fernando Kok, Reza Maroofian, Gaetan Lesca, Heba Morsy, Damien Sanlaville, Carla Marini, Renzo Guerrini, Nina Barišić, Luiza Ramos, Sarah von Spiczak, Miriam Schmidts, Patrick May, Karl Martin Klein, Beyhan Tüysüz, Audrey Labalme, Sarah Weckhuysen, Dilek Uludağ Alkaya, Julitta de Bellescize, Felix Rosenow, Farah Ashrafzadeh, Rudi Balling, Homa Tajsharghi, Amira Nabil, Katalin Sterbova, Felicitas Becker, Nicolas Chatron, Ali-Reza Moslemi, Holger Lerche, Hiltrud Muhle, Ingo Helbig, Haytham Hussien, Sandra Roselli
Publikováno v:
Brain
Brain, 143, pp. 1447-1461
Brain, 143, 1447-1461
Brain, 143, pp. 1447-1461
Brain, 143, 1447-1461
Chatron et al. describe a novel syndrome caused by bi-allelic loss-of-function mutations in GAD1, the gene encoding the GABA synthetic enzyme GAD67. The syndrome is characterized by the unique association of developmental and epileptic encephalopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15499a4b78880b918098714f0ca7fca2
https://doi.org/10.1093/brain/awaa085
https://doi.org/10.1093/brain/awaa085
Autor:
Hong Thi Tran, Reza Maroofian, Emmanuelle Szenker-Ravi, Siavash Ghaderi-Sohi, Fatemeh Ahangari, Andrea Superti-Furga, Thomas Haaf, Kris Vleminckx, Hossein Najmabadi, Caroline Lekszas, Ariana Kariminejad, Pooneh Nikuei, Minoo Rajaei, Mojila Nasseri, Afrooz Azad, Mohammad Reza Abbaszadegan, Bruno Reversade, Thomas Naert, Homa Tajsharghi, Ali-Reza Moslemi
Publikováno v:
Am J Hum Genet
American journal of human genetics, 105(6), 1294-1301. Cell Press
American Journal of Human Genetics
American journal of human genetics, 105(6), 1294-1301. Cell Press
American Journal of Human Genetics
The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-offunction TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a70d59a70391f7f91a99e6370ccf0b2
https://doi.org/10.1016/j.ajhg.2019.10.013
https://doi.org/10.1016/j.ajhg.2019.10.013
Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population
Autor:
Wafa Ali Abusibaa, Camilla Hesse, Carlos Jesus, Lola Svensson, Fernando Mendes, Mahmoud A. Srour, Ali-Reza Moslemi
Publikováno v:
Transfusion Medicine and Hemotherapy. 46:450-454
Background: The Forssman antigen (FORS1 Ag) is expressed on human red blood cells (RBCs). We investigated its presence on RBCs from Palestinian subjects and Swedish subjects by serological testing and by sequencing part of exon 7 of the GBGT1 gene, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1ca7dfc359efbd3173c728469051e97
https://doi.org/10.1159/000497288
https://doi.org/10.1159/000497288
Autor:
Brunhilde Wirth, Sabrina W. Yum, Homa Tajsharghi, Alistair T. Pagnamenta, Andrea H. Németh, Carsten G. Bönnemann, Elgar G, Marks P, Francisca Millan, J Rankin, Matteo P. Ferla, Kaiyrzhanov R, Lassche S, Orioli A, Jenny C. Taylor, Khalid A. Fakhro, Carlo Marcelis, O'Donnell M, Henry Houlden, Chiara Marini-Bettolo, Z Zolkipli-Cunningham, Arianna Tucci, Reza Maroofian, Adam Giess, Heinz Jungbluth, Lavin T, Behnaz Ansari, Yaqun Zou, Mert Karakaya, Ali-Reza Moslemi, Beetz C, Rita Barresi, M O'Driscoll, C C Muraresku, Fiona Norwood, Gutowski N, Francesco Muntoni, A. C. Need, Natalia Dominik, Keivan Basiri, Brusius I, S B Neuhaus, Lauffer M, Andrea Cortese, A.R. Foley, Mary M. Reilly, Anna Sarkozy, Gilbert Wunderlich, Fernandez-Garcia Ma, Sandra Donkervoort, Sahar I. Da'as, Yip J, Maryam Sedghi, Livija Medne
Publikováno v:
Brain
Brain, 144, 2, pp. 584-600
Brain, 144, 584-600
Brain, 144, 2, pp. 584-600
Brain, 144, 584-600
See Arribat (doi.10.1093/brain/awaa464) for a scientific commentary on this article. In a series of 17 individuals with neuropathy and rare biallelic variants in VWA1, Pagnamenta et al. identify a single frameshift present in the majority of patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282bff76a59ea521b5c9e064584e5ff3
https://pubmed.ncbi.nlm.nih.gov/33693694
https://pubmed.ncbi.nlm.nih.gov/33693694
Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population
Autor:
Wafa Ali, Abusibaa, Mahmoud A, Srour, Ali-Reza, Moslemi, Lola, Svensson, Carlos, Jesus, Fernando, Mendes, Camilla, Hesse
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
BACKGROUND: The Forssman antigen (FORS1 Ag) is expressed on human red blood cells (RBCs). We investigated its presence on RBCs from Palestinian subjects and Swedish subjects by serological testing and by sequencing part of exon 7 of the GBGT1 gene, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::03771d665ac393b44c07870d8991376b
https://europepmc.org/articles/PMC6944865/
https://europepmc.org/articles/PMC6944865/
Autor:
Ali-Reza Moslemi, Majid Ghasemi, Mojtaba Baktashian, Homa Tajsharghi, Maryam Sedghi, Ali Fattahpour, Macarena Cabrera-Serrano, Behnaz Ansari
Publikováno v:
Brain Communications
Variants in MCM3AP, encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, sk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33386ad1344b74af29cd5cba2ca274b0
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-17978
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-17978