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164 results

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Page 1
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: nafissi s. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.
Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG, Barzegar M, Moayedi AR, Badv RS, Mohamadi M, Tavasoli AR, Amirsalari S, Khajeh A, Inaloo S, Fatehi F, Hosseinpour S, Babaei M, Hosseini SA, Mahdi Hosseiny SM, Fayyazi A, Hosseini F, Toosi MB, Khosroshahi N, Ghabeli H, Biglari HN, Kakhki SK, Mirlohi SH, Bidabadi E, Mohammadi B, Omrani A, Sedighi M, Vafaee-Shahi M, Rasulinezhad M, Hoseini SM, Movahedinia M, Rezaei Z, Karimi P, Farshadmoghadam H, Anvari S, Yaghini O, Nasiri J, Zamani G, Ashrafi MR. Mansouri V, et al. Among authors: nafissi s. J Neuromuscul Dis. 2023;10(2):211-225. doi: 10.3233/JND-221614. J Neuromuscul Dis. 2023. PMID: 36776076
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Among authors: nafissi s. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.
Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A, Nafissi S, Qurashi A, Tan Z, Shamshiri H, Nilipour Y, Haghighi A, Desnick RJ, Kornreich R. Haghighi A, et al. Among authors: nafissi s. Eur J Hum Genet. 2016 Feb;24(2):243-51. doi: 10.1038/ejhg.2015.78. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966635 Free PMC article.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
MENA Pompe Working Group; Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna'a N, Al-Sharif F, Bohlega S, Cupler EJ, Fathalla W, Hamdan MA, Makhseed N, Nafissi S, Nilipour Y, Selim L, Shembesh N, Sunbul R, Tonekaboni SH. MENA Pompe Working Group, et al. Among authors: nafissi s. BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3. BMC Neurol. 2015. PMID: 26471939 Free PMC article.
164 results