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Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Lischewski SA, Konrad K, Dogan I, Didszun C, Costa AS, Schawohl SA, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Schulz JB, Reetz K; EFACTS study group. Lischewski SA, et al. Eur J Neurol. 2025 Jan;32(1):e70011. doi: 10.1111/ene.70011. Eur J Neurol. 2025. PMID: 39797559 Free PMC article.
MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.
Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García A, García-García O, O'Callaghan M, Pascual-Alonso A, Armstrong J, Mds Group, Martinez-Monseny AF. Vega-Hanna L, et al. Among authors: o callaghan m. Diagnostics (Basel). 2024 Dec 25;15(1):10. doi: 10.3390/diagnostics15010010. Diagnostics (Basel). 2024. PMID: 39795538 Free PMC article.
Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.
Villarrubia J, Morales M, Ceberio L, Vitoria I, Bellusci M, Quiñones I, Peña-Quintana L, Ruiz de Valbuena M, O'Callaghan M; en representación del grupo de estudio PREVASMD. Villarrubia J, et al. Among authors: o callaghan m. Rev Clin Esp (Barc). 2024 Nov 28:S2254-8874(24)00153-X. doi: 10.1016/j.rceng.2024.11.007. Online ahead of print. Rev Clin Esp (Barc). 2024. PMID: 39613101
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.
Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A, Brunetti-Pierri N. Rossi A, et al. Among authors: o callaghan m. Med. 2024 Nov 14:100544. doi: 10.1016/j.medj.2024.10.021. Online ahead of print. Med. 2024. PMID: 39547230
660 results