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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: benezit a. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. Among authors: benezit a. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, Scoto M, Deconinck N, Servais L; SMA-Registry Study Group. Aragon-Gawinska K, et al. Dev Med Child Neurol. 2020 Mar;62(3):310-314. doi: 10.1111/dmcn.14412. Epub 2019 Dec 4. Dev Med Child Neurol. 2020. PMID: 31799720 Free article.
[Epidemics of gastroenteritis caused by norovirus in Parisian children].
Lecarpentier T, Benezit A, Marostica A, Brasme JF, Vallet C, Chalumeau M, Lebon P, Kaplon J, de Rougemont A, Pothier P, Gendrel D. Lecarpentier T, et al. Among authors: benezit a. Arch Pediatr. 2010 Nov;17(11):1522-6. doi: 10.1016/j.arcped.2010.08.005. Epub 2010 Sep 15. Arch Pediatr. 2010. PMID: 20833005 French.
Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.
Gaume M, Saudeau E, Gomez-Garcia de la Banda M, Azzi-Salameh V, Mbieleu B, Verollet D, Benezit A, Bergounioux J, Essid A, Doehring I, Dabaj I, Desguerre I, Barnerias C, Topouchian V, Glorion C, Quijano-Roy S, Miladi L. Gaume M, et al. Among authors: benezit a. J Pediatr Orthop. 2021 Oct 1;41(9):549-558. doi: 10.1097/BPO.0000000000001897. J Pediatr Orthop. 2021. PMID: 34411042
New human-specific brain landmark: the depth asymmetry of superior temporal sulcus.
Leroy F, Cai Q, Bogart SL, Dubois J, Coulon O, Monzalvo K, Fischer C, Glasel H, Van der Haegen L, Bénézit A, Lin CP, Kennedy DN, Ihara AS, Hertz-Pannier L, Moutard ML, Poupon C, Brysbaert M, Roberts N, Hopkins WD, Mangin JF, Dehaene-Lambertz G. Leroy F, et al. Among authors: benezit a. Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):1208-13. doi: 10.1073/pnas.1412389112. Epub 2015 Jan 12. Proc Natl Acad Sci U S A. 2015. PMID: 25583500 Free PMC article. Clinical Trial.
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