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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.
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.
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: nilipour y. BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3. BMC Neurol. 2015. PMID: 26471939 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
Late-onset pompe disease in Iran: A clinical and genetic report.
Nazari F, Sinaei F, Nilipour Y, Fatehi F, Streubel B, Ashrafi MR, Aryani O, Nafissi S. Nazari F, et al. Among authors: nilipour y. Muscle Nerve. 2017 Jun;55(6):835-840. doi: 10.1002/mus.25413. Epub 2017 Feb 3. Muscle Nerve. 2017. PMID: 27649523
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
60 results