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Page 1
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: nilipour y. 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.
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: nilipour y. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
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: nilipour y. 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.
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H. Fattahi Z, et al. Among authors: nilipour y. Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21. Clin Genet. 2017. PMID: 27234031
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hedberg-Oldfors C, Abramsson A, Osborn DPS, Danielsson O, Fazlinezhad A, Nilipour Y, Hübbert L, Nennesmo I, Visuttijai K, Bharj J, Petropoulou E, Shoreim A, Vona B, Ahangari N, López MD, Doosti M, Banote RK, Maroofian R, Edling M, Taherpour M, Zetterberg H, Karimiani EG, Oldfors A, Jamshidi Y. Hedberg-Oldfors C, et al. Among authors: nilipour y. Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032. Hum Mol Genet. 2019. PMID: 30715372 Free PMC article.
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F. Alavi A, et al. Among authors: nilipour y. J Neurogenet. 2017 Sep;31(3):161-169. doi: 10.1080/01677063.2017.1346093. Epub 2017 Jul 7. J Neurogenet. 2017. PMID: 28687063
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S. Fatehi F, et al. Among authors: nilipour y. Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24. Eur J Neurol. 2020. PMID: 32558070 Free PMC article.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: nilipour y. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
60 results