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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039.
Brain. 2023.
PMID: 36757831
Free PMC article.
Circulating exosomal miRNAs in cardiovascular disease pathogenesis: New emerging hopes.
Aghabozorgi AS, Ahangari N, Eftekhaari TE, Torbati PN, Bahiraee A, Ebrahimi R, Pasdar A.
Aghabozorgi AS, et al. Among authors: torbati pn.
J Cell Physiol. 2019 Dec;234(12):21796-21809. doi: 10.1002/jcp.28942. Epub 2019 Jul 5.
J Cell Physiol. 2019.
PMID: 31273798
Review.
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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Keller N, Mendoza-Ferreira N, Maroofian R, Chelban V, Khalil Y, Mills PB, Boostani R, Torbati PN, Karimiani EG, Thiele H, Houlden H, Wirth B, Karakaya M.
Keller N, et al. Among authors: torbati pn.
Neuromuscul Disord. 2020 Jul;30(7):583-589. doi: 10.1016/j.nmd.2020.04.004. Epub 2020 Apr 29.
Neuromuscul Disord. 2020.
PMID: 32522499
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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A.
Van Gucht I, et al. Among authors: torbati pn.
Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18.
Am J Hum Genet. 2021.
PMID: 34010605
Free PMC article.
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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M, Riedhammer KM, Rad A, Torbati PN, Berutti R, Schüle I, Schroda S, Meitinger T, Ćomić J, Bojd SS, Baranzehi T, Shojaei A, Azarfar A, Khazaei MR, Köttgen A, Backofen R, Karimiani EG, Hoefele J, Schmidts M.
Najafi M, et al. Among authors: torbati pn.
Front Pediatr. 2022 Sep 22;10:974840. doi: 10.3389/fped.2022.974840. eCollection 2022.
Front Pediatr. 2022.
PMID: 36245711
Free PMC article.
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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ.
Whittle EF, et al. Among authors: torbati pn.
Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15.
Genet Med. 2023.
PMID: 36520152
Free PMC article.
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ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Ahangari N, Gholampour-Faroji N, Doosti M, Ghayour Mobarhan M, Shahrokhzadeh S, Karimiani EG, Hasani-Sabzevar B, Torbati PN, Haddad-Mashadrizeh A.
Ahangari N, et al. Among authors: torbati pn.
Mol Genet Genomic Med. 2023 Jun;11(6):e2153. doi: 10.1002/mgg3.2153. Epub 2023 Feb 16.
Mol Genet Genomic Med. 2023.
PMID: 36794879
Free PMC article.
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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS.
Banks E, et al. Among authors: torbati pn.
medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845.
medRxiv. 2024.
PMID: 38352438
Free PMC article.
Preprint.
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