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Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: tasca g. medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671. medRxiv. 2024. PMID: 38293186 Free PMC article. Preprint.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Baneye Maiga A, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: tasca g. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592369. doi: 10.1101/2024.05.03.592369. bioRxiv. 2024. PMID: 38765987 Free PMC article. Preprint.
Harmonization of homologous recombination deficiency testing in ovarian cancer: Results from the MITO16A/MaNGO-OV2 trial.
Roma C, Esposito Abate R, Sacco A, Califano D, Arenare L, Bergantino F, Pisano C, Cecere SC, Scambia G, Lorusso D, Artioli G, Tasca G, Spina A, Russo D, Gadducci A, De Angelis C, Bologna A, Marchini S, Capoluongo ED, Perrone F, Pignata S, Normanno N. Roma C, et al. Among authors: tasca g. Eur J Cancer. 2024 May 23;206:114127. doi: 10.1016/j.ejca.2024.114127. Online ahead of print. Eur J Cancer. 2024. PMID: 38797038
Axial involvement as a prominent feature in SMPX-related distal myopathy.
Salman D, Bolano-Diaz C, Muni-Lofra R, Wong K, Elseed M, Harris E, Diaz-Manera J, Guglieri M, Marini-Bettolo C, Straub V, Tasca G. Salman D, et al. Among authors: tasca g. Neuromuscul Disord. 2024 Apr 4;39:3-4. doi: 10.1016/j.nmd.2024.04.002. Online ahead of print. Neuromuscul Disord. 2024. PMID: 38615630 Free article. No abstract available.
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.
Schiava M, Lofra RM, Bourke JP, Díaz-Manera J, James MK, Elseed MA, Malinova M, Michel-Sodhi J, Moat D, Ghimenton E, Mccallum M, Díaz CFB, Mayhew A, Wong K, Richardson M, Tasca G, Eglon G, Eagle M, Turner C, Heslop E, Straub V, Bettolo CM, Guglieri M. Schiava M, et al. Among authors: tasca g. Eur J Neurol. 2024 Jun;31(6):e16267. doi: 10.1111/ene.16267. Epub 2024 Mar 31. Eur J Neurol. 2024. PMID: 38556893
272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands.
Lilleker JB, Naddaf E, Saris CGJ, Schmidt J, de Visser M, Weihl CC; 272nd ENMC workshop participants. Lilleker JB, et al. Neuromuscul Disord. 2024 Apr;37:36-51. doi: 10.1016/j.nmd.2024.03.001. Epub 2024 Mar 7. Neuromuscul Disord. 2024. PMID: 38522330
436 results