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Page 1
Neuromuscular disorders in the omics era.
Dabaj I, Ducatez F, Marret S, Bekri S, Tebani A. Dabaj I, et al. Clin Chim Acta. 2024 Jan 15;553:117691. doi: 10.1016/j.cca.2023.117691. Epub 2023 Dec 9. Clin Chim Acta. 2024. PMID: 38081447 Review.
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Cesar S, Campuzano O, Cruzalegui J, Fiol V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D, Ortez C, Carrera L, Expósito J, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada J, Nascimento A, Sarquella-Brugada G. Cesar S, et al. Among authors: dabaj i. Front Cell Dev Biol. 2023 Mar 10;11:1142937. doi: 10.3389/fcell.2023.1142937. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36968203 Free PMC article.
Ischemic stroke on SARS-CoV2 vasculitis in a healthy young girl.
Petat H, Hassani A, Dabaj I, Tzaroukian L, Goujard B, Michelet I, More R. Petat H, et al. Among authors: dabaj i. Health Sci Rep. 2023 Jan 23;6(1):e1046. doi: 10.1002/hsr2.1046. eCollection 2023 Jan. Health Sci Rep. 2023. PMID: 36704422 Free PMC article.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: dabaj i. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Cousin MA, et al. Among authors: dabaj i. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4. Genome Med. 2022. PMID: 35698242 Free PMC article.
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Boutouchent N, Bourilhon J, Sudrié-Arnaud B, Bonnevalle A, Guyant-Maréchal L, Acquaviva C, Dujardin-Ippolito L, Bekri S, Dabaj I, Tebani A. Boutouchent N, et al. Among authors: dabaj i. Diagnostics (Basel). 2021 Aug 28;11(9):1561. doi: 10.3390/diagnostics11091561. Diagnostics (Basel). 2021. PMID: 34573903 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: dabaj i. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
33 results