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Papers共 284 篇Author StatisticsCo-AuthorSimilar Experts

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Characterisation of a Large, Single-Centre Cohort of Patients with Becker Muscular Dystrophy to Inform Standardised Care Guidelines
Pietro Riguzzi, Holly Borland, Meredith K. James, John Bourke, Chiara Marini Bettolo, Robert Muni Lofra,Jordi Diaz-Manera,Giorgio Tasca,Marianela Schiava, Maha ElSeed, Elizabeth Harris, Emma Grover, Chloe Geagan, Carla Bolano Diaz, Ariele Barreto Haagsma, Doaa Salman, Tara Reeves, Goknur S. Kocak, Emma Robinson, Peter Waldock, Michelle McCallum, Jassi Michell-Sodhi,Dionne Moat, Karen Wong,Ana Topf,Elena Pegoraro,Luca Bello,Volker Straub, Michela Guglieri
Journal of Neurologyno. 7 (2025): 1-13
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Strategy for Drug Repurposing in Fibroadipogenic Replacement During Muscle Wasting: Application to Duchenne Muscular Dystrophy
Izzy Matthews, Priyanka Mehra,Xavier Suárez-Calvet, Patricia Piñol-Jurado, Dan Cox, Vellia Justian, Ana Carrasco-Rozas, Zoe Laidler, Andrew Bowey, Paul Rushton, Susana López-Fernández,Jordi Díaz-Manera, Esther Fernández-Simón
Frontiers in cell and developmental biology (2025): 1505697-1505697
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Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
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P281: JOURNEY: A Natural History Study of Limb-Girdle Muscular Dystrophies R3–R5, Baseline Characteristics of Study Cohort
Linda P. Lowes, Carlos Ortez Gonzalez, Kristl Claeys, Chamindra Laverty,Andrea Gangfuss,Crystal Proud,Jordi Diaz Manera, Meredith James, Lindsay Alfano,Herb Stevenson, Lixi Yu, André Mueller-York, Giacomo Comi
Genetics in Medicine Open (2025): 102246
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Author Statistics

#Papers: 284

#Citation: 6289

H-Index: 40

G-Index: 75

Sociability: 8

Diversity: 3

Activity: 64

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