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KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. Rivière JB, et al. Among authors: nafissi s. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820098 Free PMC article.
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
Iranian clinical practice guideline for amyotrophic lateral sclerosis.
Boostani R, Olfati N, Shamshiri H, Salimi Z, Fatehi F, Hedjazi SA, Fakharian A, Ghasemi M, Okhovat AA, Basiri K, Haghi Ashtiani B, Ansari B, Raissi GR, Khatoonabadi SA, Sarraf P, Movahed S, Panahi A, Ziaadini B, Yazdchi M, Bakhtiyari J, Nafissi S. Boostani R, et al. Among authors: nafissi s. Front Neurol. 2023 Jun 2;14:1154579. doi: 10.3389/fneur.2023.1154579. eCollection 2023. Front Neurol. 2023. PMID: 37333000 Free PMC article. Review.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul F, Ng C, Mohamad Sahari UB, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoğlu U, Estiar MA, Majoie CB, Lee H, Nelson SF, Gan-Or Z, Rouleau GA, Van Veldhoven PP, Massie R, Hennekam RC, Kariminejad A, Reversade B. Paul F, et al. Among authors: nafissi s. Hum Mol Genet. 2022 Oct 28;31(21):3729-3740. doi: 10.1093/hmg/ddac120. Hum Mol Genet. 2022. PMID: 35652444
166 results