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A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Among authors: pacha la. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
[The high phenotypic variability of RYR1 gene mutations].
Islam Kediha M, Nouioua S, Tazir M, Sternberg D, Lunardi J, Ali Pacha L. Islam Kediha M, et al. Among authors: ali pacha l. Med Sci (Paris). 2022 Dec;38 Hors série n° 1:46-48. doi: 10.1051/medsci/2022178. Epub 2023 Jan 16. Med Sci (Paris). 2022. PMID: 36649637 Free article. French.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M. Renaud M, et al. Among authors: pacha la. JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373. JAMA Neurol. 2018. PMID: 29356829 Free PMC article.
Clinical management and disease-modifying treatment for amyotrophic lateral sclerosis in African hospital centers: the TROPALS study.
Luna J, Jost J, Diagana M, Ait Aissa L, Tazir M, Ali Pacha L, Kacem I, Gouider R, Henning F, Basse A, Cisse O, Balogou AK, Kombate D, Agbetou M, Houinato D, Gnonlonfoun DD, Millogo A, Agba T, Belo M, Sengxeu N, Hamidou B, Preux PM, Benoit M, Couratier P; Tropals Collaboration. Luna J, et al. Among authors: ali pacha l. Amyotroph Lateral Scler Frontotemporal Degener. 2022 May;23(3-4):279-283. doi: 10.1080/21678421.2021.1961806. Epub 2021 Aug 28. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34459327
In-vitro immunomodulatory effects of nicotine on Nitric Oxide, interleukin 1β and interleukin 37 production in human peripheral blood mononuclear cells (PBMC) from patients with Behçet disease.
Ghozali N, Belguendouz H, Messaoudene D, Hadjimi Z, Ihammichene S, Chekaoui A, Benchabane S, Terahi M, Kediha I, Ali Pacha L, Touil-Boukoffa C. Ghozali N, et al. Among authors: ali pacha l. Int Immunopharmacol. 2021 Dec;101(Pt A):108189. doi: 10.1016/j.intimp.2021.108189. Epub 2021 Oct 1. Int Immunopharmacol. 2021. PMID: 34601327
Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study.
Luna J, Diagana M, Ait Aissa L, Tazir M, Ali Pacha L, Kacem I, Gouider R, Henning F, Basse A, Cisse O, Balogou AAK, Kombate D, Agbetou M, Houinato D, Millogo A, Agba T, Belo M, Penoty M, Raymondeau-Moustafa M, Hamidou B, Couratier P, Preux PM, Marin B; TROPALS Collaboration. Luna J, et al. Among authors: ali pacha l. J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):20-29. doi: 10.1136/jnnp-2018-318469. Epub 2018 Sep 21. J Neurol Neurosurg Psychiatry. 2019. PMID: 30242088
Multicenter transversal two-phase study to determine a national prevalence of epilepsy in Algeria.
Moualek D, Pacha LA, Abrouk S, Kediha MI, Nouioua S, Aissa LA, Bellatache M, Belarbi S, Slimani S, Khennouf H, Fellahi L, El Amine Hamimed M, Benali N, Chekkour MC, Maamoun R, Dameche R, Assami S, Tazir M. Moualek D, et al. Among authors: pacha la. Neuroepidemiology. 2012;39(2):131-4. doi: 10.1159/000339637. Epub 2012 Aug 9. Neuroepidemiology. 2012. PMID: 22889740
13 results