263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

ENMC 263rd Workshop Study Group; Anna Sarkozy; Rosaline Quinlivan; John P. Bourke; Alessandra  Ferlini

doi:10.1016/j.nmd.2023.01.003

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

ENMC 263rd Workshop Study Group, Anna Sarkozy^*, Rosaline Quinlivan, John P. Bourke, Alessandra  Ferlini

^*Corresponding author for this work

Developmental Biology

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Original language	English
Pages (from-to)	274-284
Number of pages	11
Journal	Neuromuscular Disorders
Volume	33
Issue number	3
DOIs	https://doi.org/10.1016/j.nmd.2023.01.003
Publication status	Published - Mar 2023

Bibliographical note

Funding Information:
The workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Française contre les Myopathies (France) , Deutsche Gesellschaft für Muskelkranke (Germany) , Muscular Dystrophy Campaign (UK) , Muskelsvindfonden (Denmark) , Prinses Beatrix Fonds (The Netherlands) , Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland) , Telethon Foundation (Italy) , Spierziekten Nederland (The Netherlands) , and Associated members Partners: Finnish Neuromuscular Association (Finland) , Österreichische Muskelforschung (Austria) , SMA Europe and World Duchenne Organisation . In addition, we would like to thank the members of the ENMC Company Forum: Sanofi, Roche, Lupin Neuroscience, Amicus Therapeutics, Ionis Pharmaceuticals, Biogen, Novartis, PerkinElmer and Astellas.

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10.1016/j.nmd.2023.01.003

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ENMC 263rd Workshop Study Group, Sarkozy, A., Quinlivan, R., Bourke, J. P., &  Ferlini, A. (2023). 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. Neuromuscular Disorders, 33(3), 274-284. https://doi.org/10.1016/j.nmd.2023.01.003

@article{9b98a9fa5b744e6f8f2b34ef165481ef,

title = "263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022",

author = "{ENMC 263rd Workshop Study Group} and Anna Sarkozy and Rosaline Quinlivan and Bourke, {John P.} and Alessandra  Ferlini and In{\`e}s Barth{\'e}l{\'e}my and Cripe, {Linda H.} and Emily Reuben and Teresinha Evangelista and Alessandra  Ferlini and Anca Florian and Josh Gribnau and Lidia Gonzalez-Quereda and Michela Guglieri and Erik Niks and Rahul Phadke and Luisa Politano and Ros Quinlivan and John Vissing and Nicol Voermans and Elizabeth Vroom and Aleksandra Pietrusz and Fernanda Fortunato and Saskia Houwen",

note = "Funding Information: The workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Fran{\c c}aise contre les Myopathies (France) , Deutsche Gesellschaft f{\"u}r Muskelkranke (Germany) , Muscular Dystrophy Campaign (UK) , Muskelsvindfonden (Denmark) , Prinses Beatrix Fonds (The Netherlands) , Schweizerische Stiftung f{\"u}r die Erforschung der Muskelkrankheiten (Switzerland) , Telethon Foundation (Italy) , Spierziekten Nederland (The Netherlands) , and Associated members Partners: Finnish Neuromuscular Association (Finland) , {\"O}sterreichische Muskelforschung (Austria) , SMA Europe and World Duchenne Organisation . In addition, we would like to thank the members of the ENMC Company Forum: Sanofi, Roche, Lupin Neuroscience, Amicus Therapeutics, Ionis Pharmaceuticals, Biogen, Novartis, PerkinElmer and Astellas.",

year = "2023",

month = mar,

doi = "10.1016/j.nmd.2023.01.003",

language = "English",

volume = "33",

pages = "274--284",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd.",

number = "3",

}

ENMC 263rd Workshop Study Group, Sarkozy, A, Quinlivan, R, Bourke, JP &  Ferlini, A 2023, '263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022', Neuromuscular Disorders, vol. 33, no. 3, pp. 274-284. https://doi.org/10.1016/j.nmd.2023.01.003

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. / ENMC 263rd Workshop Study Group; Sarkozy, Anna; Quinlivan, Rosaline et al.
In: Neuromuscular Disorders, Vol. 33, No. 3, 03.2023, p. 274-284.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - 263rd ENMC International Workshop

T2 - Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

AU - ENMC 263rd Workshop Study Group

AU - Sarkozy, Anna

AU - Quinlivan, Rosaline

AU - Bourke, John P.

AU -  Ferlini, Alessandra

AU - Barthélémy, Inès

AU - Cripe, Linda H.

AU - Reuben, Emily

AU - Evangelista, Teresinha

AU -  Ferlini, Alessandra

AU - Florian, Anca

AU - Gribnau, Josh

AU - Gonzalez-Quereda, Lidia

AU - Guglieri, Michela

AU - Niks, Erik

AU - Phadke, Rahul

AU - Politano, Luisa

AU - Quinlivan, Ros

AU - Vissing, John

AU - Voermans, Nicol

AU - Vroom, Elizabeth

AU - Pietrusz, Aleksandra

AU - Fortunato, Fernanda

AU - Houwen, Saskia

N1 - Funding Information: The workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Française contre les Myopathies (France) , Deutsche Gesellschaft für Muskelkranke (Germany) , Muscular Dystrophy Campaign (UK) , Muskelsvindfonden (Denmark) , Prinses Beatrix Fonds (The Netherlands) , Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland) , Telethon Foundation (Italy) , Spierziekten Nederland (The Netherlands) , and Associated members Partners: Finnish Neuromuscular Association (Finland) , Österreichische Muskelforschung (Austria) , SMA Europe and World Duchenne Organisation . In addition, we would like to thank the members of the ENMC Company Forum: Sanofi, Roche, Lupin Neuroscience, Amicus Therapeutics, Ionis Pharmaceuticals, Biogen, Novartis, PerkinElmer and Astellas.

PY - 2023/3

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U2 - 10.1016/j.nmd.2023.01.003

DO - 10.1016/j.nmd.2023.01.003

M3 - Article

C2 - 36804616

AN - SCOPUS:85150079779

SN - 0960-8966

VL - 33

SP - 274

EP - 284

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 3

ER -

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

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