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Page 1
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
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
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, Amirsalari S, Rayegani SM, Tonekaboni SH. Karimzadeh P, et al. Among authors: tonekaboni sh. Neuromuscul Disord. 2022 Oct;32(10):806-810. doi: 10.1016/j.nmd.2022.08.002. Epub 2022 Aug 6. Neuromuscul Disord. 2022. PMID: 36309462 Review.
A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings.
Alijanpour S, Ghafouri-Fard S, Tonekaboni SH, Karimzadeh P, Ahmadabadi F, Rahimian E, Panjeshahi S, Miryounesi M. Alijanpour S, et al. Among authors: tonekaboni sh. Basic Clin Neurosci. 2024 Jul-Aug;15(4):541-552. doi: 10.32598/bcn.2023.5507.1. Epub 2024 Jul 1. Basic Clin Neurosci. 2024. PMID: 39553263 Free PMC article.
Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.
Tehrani Fateh S, Bagheri S, Sadeghi H, Salehpour S, Fazeli Bavandpour F, Sadeghi B, Jamshidi S, Tonekaboni SH, Mirfakhraie R, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: tonekaboni sh. Neurol Sci. 2023 Dec;44(12):4491-4498. doi: 10.1007/s10072-023-06960-0. Epub 2023 Jul 15. Neurol Sci. 2023. PMID: 37452996
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
65 results