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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22.
Ann Rheum Dis. 2022.
PMID: 35868845
Free PMC article.
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP.
Charif M, et al. Among authors: titah sm.
Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10.
Am J Med Genet A. 2015.
PMID: 26061759
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Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
Titah SM, Meunier I, Blanchet C, Lopez S, Rondouin G, Lenaers G, Amati-Bonneau P, Reynier P, Paquis-Flucklinger V, Hamel CP.
Titah SM, et al.
Eur J Ophthalmol. 2012 Mar-Apr;22(2):254-8. doi: 10.5301/EJO.2011.8370.
Eur J Ophthalmol. 2012.
PMID: 21623591
Free article.
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