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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J. Brande LV, et al. Among authors: eymard b. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology.
Truffault F, Auger L, Dragin N, Vilquin JT, Fadel E, Thomas de Montpreville V, Mansuet-Lupo A, Regnard JF, Alifano M, Sharshar T, Behin A, Eymard B, Bolgert F, Demeret S, Berrih-Aknin S, Le Panse R. Truffault F, et al. Among authors: eymard b. Sci Rep. 2024 Jun 17;14(1):13955. doi: 10.1038/s41598-024-63162-0. Sci Rep. 2024. PMID: 38886398 Free PMC article.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: eymard b. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S. Masingue M, et al. Among authors: eymard b. Sci Rep. 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. Sci Rep. 2023. PMID: 37640745 Free PMC article.
415 results