J
Jaana Lahdetie
Publications - 4
Citations - 718
Jaana Lahdetie is an academic researcher. The author has contributed to research in topics: SMA* & Point mutation. The author has an hindex of 4, co-authored 4 publications receiving 550 citations.
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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Catherine L. Bladen,David Salgado,Soledad Monges,Maria E. Foncuberta,Kyriaki Kekou,Konstantina Kosma,Konstantina Kosma,Hugh Dawkins,Leanne Lamont,Anna J. Roy,Teodora Chamova,Velina Guergueltcheva,Sophelia H. S. Chan,Lawrence Korngut,Craig Campbell,Yi Dai,Jen Wang,Nina Barišić,Petr Brabec,Jaana Lahdetie,Maggie C. Walter,Olivia Schreiber-Katz,Veronika Karcagi,Marta Garami,Venkatarman Viswanathan,Farhad Bayat,Filippo Buccella,En Kimura,Zaïda Koeks,Janneke C. van den Bergen,Miriam Rodrigues,Richard Roxburgh,Anna Lusakowska,Anna Kostera-Pruszczyk,Janusz Zimowski,Rosário Santos,Elena Neagu,Svetlana Artemieva,Vedrana Milic Rasic,Dina Vojinovic,Manuel Posada,Clemens Bloetzer,Pierre Yves Jeannet,Franziska Joncourt,Jordi Díaz-Manera,Eduard Gallardo,Ayse Karaduman,Haluk Topaloglu,Rasha El Sherif,Angela Stringer,Andriy V. Shatillo,Ann Martin,Holly L. Peay,Matthew I. Bellgard,Jan Kirschner,Kevin M. Flanigan,Volker Straub,Kate Bushby,Jan J.G.M. Verschuuren,Annemieke Aartsma-Rus,Annemieke Aartsma-Rus,Christophe Béroud,Christophe Béroud,Hanns Lochmüller +63 more
TL;DR: The development and analysis of the TREAT‐NMD DMD Global database is described and mutations were identified that would potentially benefit from novel genetic therapies for DMD including stop codon read‐through therapies and exon skipping therapy.
Journal ArticleDOI
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Zaïda Koeks,Catherine L. Bladen,David Salgado,Erik W. van Zwet,Oksana Pogoryelova,Grace McMacken,Soledad Monges,Maria E. Foncuberta,Kyriaki Kekou,Konstantina Kosma,Hugh Dawkins,Leanne Lamont,Matthew I. Bellgard,Anna J. Roy,Teodora Chamova,Velina Guergueltcheva,Sophelia H. S. Chan,Lawrence Korngut,Craig Campbell,Yi Dai,Jen Wang,Nina Barišić,Petr Brabec,Jaana Lahdetie,Maggie C. Walter,Olivia Schreiber-Katz,Veronika Karcagi,Marta Garami,Agnes Herczegfalvi,Venkatarman Viswanathan,Farhad Bayat,Filippo Buccella,Alessandra Ferlini,En Kimura,Janneke C. van den Bergen,Miriam Rodrigues,Richard Roxburgh,Anna Lusakowska,Anna Kostera-Pruszczyk,Rosário Santos,Elena Neagu,Svetlana Artemieva,Vedrana Milic Rasic,Dina Vojinovic,Dina Vojinovic,Manuel Posada,Clemens Bloetzer,Andrea Klein,Jordi Díaz-Manera,Eduard Gallardo,Ayşe Karaduman,Tunca Oznur,Haluk Topaloglu,Rasha El Sherif,Angela Stringer,Andriy V. Shatillo,Ann Martin,Holly L. Peay,Jan Kirschner,Kevin M. Flanigan,Volker Straub,Kate Bushby,Christophe Béroud,Jan J.G.M. Verschuuren,Hanns Lochmüller +64 more
TL;DR: The data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy.
Journal ArticleDOI
The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia
Catherine L. Bladen,Karen Rafferty,Volker Straub,Soledad Monges,Angelica Moresco,Hugh Dawkins,Anna J. Roy,Teodora Chamova,Velina Guergueltcheva,Lawrence Korngut,Craig Campbell,Yi Dai,Nina Barišić,Tea Kos,Petr Brabec,Jes Rahbek,Jaana Lahdetie,Sylvie Tuffery-Giraud,Mireille Claustres,Rabah Ben Yaou,Maggie C. Walter,Olivia Schreiber,Veronika Karcagi,Agnes Herczegfalvi,Venkatarman Viswanathan,Farhad Bayat,Isis de la caridad Guerrero Sarmiento,Anna Ambrosini,Francesca Ceradini,En Kimura,Janneke C. van den Bergen,Miriam Rodrigues,Richard Roxburgh,Anna Lusakowska,Jorge Oliveira,Rosário Santos,Elena Neagu,Niculina Butoianu,Svetlana Artemieva,Vedrana Milic Rasic,Manuel Posada,Francesc Palau,Björn Lindvall,Clemens Bloetzer,Ayşe Karaduman,Haluk Topaloglu,Serap Inal,Piraye Oflazer,Angela Stringer,Andriy V. Shatillo,Ann Martin,Holly L. Peay,Kevin M. Flanigan,David Salgado,David Salgado,Brigitta von Rekowski,Stephen Lynn,Emma Heslop,Sabina Gainotti,Domenica Taruscio,Jan Kirschner,Jan J.G.M. Verschuuren,Kate Bushby,Christophe Béroud,Hanns Lochmüller +64 more
TL;DR: How the TREAT‐NMD national patient registries for DMD were established and how successful they have been at fostering collaboration between academia, patient organizations, and industry are described are described.
Journal ArticleDOI
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Catherine L. Bladen,Rachel Thompson,Jacqueline Jackson,Connie Garland,Claire E. Wegel,Anna Ambrosini,Paolo Pisano,Maggie C. Walter,Olivia Schreiber,Anna Lusakowska,Maria Jędrzejowska,Anna Kostera-Pruszczyk,Ludo van der Pol,Renske I. Wadman,Ole Gredal,Ayse Karaduman,Haluk Topaloglu,Öznur Yilmaz,Vitaliy Matyushenko,Vedrana Milic Rasic,Ana Kosac,Veronika Karcagi,Marta Garami,Agnes Herczegfalvi,Soledad Monges,Angelica Moresco,Lilien P Chertkoff,Teodora Chamova,Velina Guergueltcheva,Niculina Butoianu,Dana Craiu,Lawrence Korngut,Craig Campbell,Jana Haberlová,Jana Strenková,Moises Alejandro,Alatorre Jimenez,Genaro G. Ortiz,Gracia Viviana Gonzalez Enriquez,Miriam Rodrigues,Richard Roxburgh,Hugh Dawkins,Leanne Youngs,Jaana Lahdetie,Natalija Angelkova,Pascale Saugier-Veber,Jean Marie Cuisset,Clemens Bloetzer,Pierre Yves Jeannet,Andreas Klein,Andrés Nascimento,Eduardo F. Tizzano,David Salgado,David Salgado,E Mercuri,Thomas Sejersen,Jan Kirschner,Karen Rafferty,Volker Straub,Kate Bushby,Jan J.G.M. Verschuuren,Christophe Béroud,Hanns Lochmüller +62 more
TL;DR: This study describes the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients, and analyses a selection of clinical items from the SMA registries.