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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: tonekaboni sh. BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3. BMC Neurol. 2015. PMID: 26471939 Free PMC article.
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H. Nilipour Y, et al. Among authors: tonekaboni sh. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. Eur J Neurol. 2018. PMID: 29498452
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.
Karimzadeh P, Tonekaboni SH, Ashrafi MR, Shafeghati Y, Rezayi A, Salehpour S, Ghofrani M, Taghdiri MM, Rahmanifar A, Zaman T, Aryani O, Shoar BN, Shiva F, Tavasoli A, Houshmand M. Karimzadeh P, et al. Among authors: tonekaboni sh. J Child Neurol. 2013 Dec;28(12):1599-606. doi: 10.1177/0883073812464526. Epub 2012 Nov 8. J Child Neurol. 2013. PMID: 23143717
Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
Sabeghi D, InanlooRahatloo K, Mirzadeh HS, Khani M, Shamshiri H, Taghavi T, Alavi A, Boostani R, Tonekaboni SH, Akhondian J, Ebrahimi M, Salehi N, Nafissi S, Elahi E. Sabeghi D, et al. Among authors: tonekaboni sh. Acta Neurol Belg. 2024 Aug;124(4):1363-1370. doi: 10.1007/s13760-024-02598-7. Epub 2024 Jul 4. Acta Neurol Belg. 2024. PMID: 38965176
65 results