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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: beiraghi toosi m. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R, Eshraghi P, Fakharian A, Hadipour Z, Haghi Ashtiani B, Moravej H, Nilipour Y, Sarraf P, Sayadpour Zanjani K, Nafissi S. Fatehi F, et al. Among authors: beiraghi toosi m. Front Neurol. 2021 Sep 21;12:739931. doi: 10.3389/fneur.2021.739931. eCollection 2021. Front Neurol. 2021. PMID: 34621239 Free PMC article. Review.
Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing. Objective: This guideline's main objective was to develop a national guideline for Pompe …
Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians …
Effect of Curcumin on Pediatric Intractable Epilepsy.
Erfani M, Ashrafzadeh F, Rahimi HR, Ebrahimi SA, Kalali K, Beiraghi Toosi M, Faraji Rad E. Erfani M, et al. Among authors: beiraghi toosi m. Iran J Child Neurol. 2022 Summer;16(3):35-45. doi: 10.22037/ijcn.v15i4.28648. Epub 2022 Jul 16. Iran J Child Neurol. 2022. PMID: 36204434 Free PMC article.
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Magrinelli F, Bhatia KP, Beiraghi Toosi M, Arab F, Karimiani EG, Sedighzadeh S, Ansari B, Neshatdoust M, Rocca C, Houlden H, Maroofian R. Magrinelli F, et al. Among authors: beiraghi toosi m. Mov Disord Clin Pract. 2022 Aug 23;10(1):101-108. doi: 10.1002/mdc3.13529. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36698997 Free PMC article. Review.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: beiraghi toosi m. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Among authors: beiraghi toosi m. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: beiraghi toosi m. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy.
Beiraghi Toosi M, Akhondian J, Ashraf Zadeh F, Donyadideh N, Javid A. Beiraghi Toosi M, et al. Iran J Child Neurol. 2018 Spring;12(2):113-116. Iran J Child Neurol. 2018. PMID: 29696053 Free PMC article.
Wilson's disease (WD) is a rare autosomal recessive disease due to copper metabolism disturbance. The clinical presentation spectrum of Wilson's disease is wide and initial findings of the disease depend on the organ involved. ...
Wilson's disease (WD) is a rare autosomal recessive disease due to copper metabolism disturbance. The clinical presentation spectrum …
Sentinel node mapping in Marjolin's ulcers: is it feasible?
Motamedolshariati M, Rezaei E, Beiraghi-Toosi A, Jahani A, Tayyebi Meibodi N, Fattahi A, Sadeghi R. Motamedolshariati M, et al. Among authors: beiraghi toosi a. Wounds. 2015 Mar;27(3):54-62. Wounds. 2015. PMID: 25786077 Free article.
INTRODUCTION: This study evaluated the feasibility of sentinel node biopsy in Marjolin's ulcers using peritumoral injection of the radiotracer and blue dye. ...CONCLUSION: Lymphatic mapping and sentinel node biopsy do not seem feasible in Marjolin's ulcers located i …
INTRODUCTION: This study evaluated the feasibility of sentinel node biopsy in Marjolin's ulcers using peritumoral injection of the ra …
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