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Page 1
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM. Sentell ZT, et al. Among authors: mougharbel l. Hum Mol Genet. 2024 Dec 18:ddae182. doi: 10.1093/hmg/ddae182. Online ahead of print. Hum Mol Genet. 2024. PMID: 39690811
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Collins Hutchinson ML, St-Onge J, Schlienger S, Boudrahem-Addour N, Mougharbel L, Michaud JF, Lloyd C, Bruneau E, Roux C, Sahly AN, Osterman B, Myers KA, Rouleau GA, Jimenez Cruz DA, Rivière JB, Accogli A, Charron F, Srour M. Collins Hutchinson ML, et al. Among authors: mougharbel l. Mov Disord. 2024 Feb;39(2):400-410. doi: 10.1002/mds.29669. Epub 2024 Feb 5. Mov Disord. 2024. PMID: 38314870
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E, Accogli A, St-Onge J, Addour-Boudrahem N, Prakash G, Kim SH, Brunette-Clement T, Alhajaj G, Mougharbel L, Bruneau E, Myers KA, Dubeau F, Karamchandani J, Farmer JP, Atkinson J, Hall J, Chantal Poulin C, Rosenblatt B, Lafond-Lapalme J, Weil A, Fallet-Bianco C, Albrecht S, Sonenberg N, Riviere JB, Dudley RW, Srour M. Krochmalnek E, et al. Among authors: mougharbel l. Neurol Genet. 2023 Oct 26;9(6):e200103. doi: 10.1212/NXG.0000000000200103. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 37900581 Free PMC article.