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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. Carmignac V, et al. Among authors: mukhtar mm. Ann Neurol. 2007 Apr;61(4):340-51. doi: 10.1002/ana.21089. Ann Neurol. 2007. PMID: 17444505
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V. Mihaylova V, et al. Among authors: mukhtar mm. Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. Neurology. 2009. PMID: 19949040 No abstract available.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Saha M, et al. Among authors: mukhtar mm. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31. Physiol Genomics. 2018. PMID: 30345904 Free PMC article.
Mucosal leishmaniasis in a Sudanese patient.
Abbas K, Musatafa MA, Abass S, Kheir MM, Mukhtar M, Elamin EM, Elhassan AM. Abbas K, et al. Among authors: mukhtar m. Am J Trop Med Hyg. 2009 Jun;80(6):935-8. Am J Trop Med Hyg. 2009. PMID: 19478252
120 results