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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.
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
Ghasemi MR, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, Bagheri S, Razjouyan K, Salehpour S, Tonekaboni SH, Dianatpour M, Omrani D, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: tonekaboni sh. BMC Med Genomics. 2024 Aug 5;17(1):196. doi: 10.1186/s12920-024-01969-6. BMC Med Genomics. 2024. PMID: 39103847 Free PMC article.
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
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
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.
64 results