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

Anna Sarkozy; Rosaline Quinlivan; John P. Bourke; Alessandra Ferlini; Inès Barthélémy; Linda H. Cripe; Emily Reuben; Teresinha Evangelista; Anca Florian; Josh Gribnau; Lidia Gonzalez-Quereda; Michela Guglieri; Erik Niks; Rahul Phadke; Luisa Politano; Ros Quinlivan; John Vissing; Nicol Voermans; Elizabeth Vroom; Aleksandra Pietrusz; Fernanda Fortunato; Saskia Houwen; ENMC 263rd Workshop Study Group

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

Anna Sarkozy^*, Rosaline Quinlivan, John P. Bourke, Alessandra Ferlini, Inès Barthélémy, Linda H. Cripe, Emily Reuben, Teresinha Evangelista, Anca Florian, Josh Gribnau, Lidia Gonzalez-Quereda, Michela Guglieri, Erik Niks, Rahul Phadke, Luisa Politano, Ros Quinlivan, John Vissing, Nicol Voermans, Elizabeth Vroom, Aleksandra PietruszFernanda Fortunato, Saskia Houwen, ENMC 263rd Workshop Study Group

^*Corresponding author for this work

Research output: Contribution to journal › Conference article › Research › peer-review

13 Citations (Scopus)

Original language	English
Journal	Neuromuscular Disorders
Volume	33
Issue number	3
Pages (from-to)	274-284
Number of pages	11
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2023.01.003
Publication status	Published - 2023
Event	263rd ENMC International Workshop - Hoofddorp, Netherlands Duration: 13 May 2022 → 15 May 2022

Workshop

Workshop	263rd ENMC International Workshop
Country/Territory	Netherlands
City	Hoofddorp
Period	13/05/2022 → 15/05/2022

Access to Document

10.1016/j.nmd.2023.01.003

Cite this

Sarkozy, A., Quinlivan, R., Bourke, J. P., Ferlini, A., Barthélémy, I., Cripe, L. H., Reuben, E., Evangelista, T., Florian, A., Gribnau, J., Gonzalez-Quereda, L., Guglieri, M., Niks, E., Phadke, R., Politano, L., Quinlivan, R., Vissing, J., Voermans, N., Vroom, E., ... ENMC 263rd Workshop Study Group (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

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. / Sarkozy, Anna; Quinlivan, Rosaline; Bourke, John P.; Ferlini, Alessandra; Barthélémy, Inès; Cripe, Linda H.; Reuben, Emily; Evangelista, Teresinha; Florian, Anca; Gribnau, Josh; Gonzalez-Quereda, Lidia; Guglieri, Michela; Niks, Erik; Phadke, Rahul; Politano, Luisa; Quinlivan, Ros; Vissing, John; Voermans, Nicol; Vroom, Elizabeth; Pietrusz, Aleksandra; Fortunato, Fernanda; Houwen, Saskia; ENMC 263rd Workshop Study Group.

In: Neuromuscular Disorders, Vol. 33, No. 3, 2023, p. 274-284.

Research output: Contribution to journal › Conference article › Research › peer-review

Sarkozy, A, Quinlivan, R, Bourke, JP, Ferlini, A, Barthélémy, I, Cripe, LH, Reuben, E, Evangelista, T, Florian, A, Gribnau, J, Gonzalez-Quereda, L, Guglieri, M, Niks, E, Phadke, R, Politano, L, Quinlivan, R, Vissing, J, Voermans, N, Vroom, E, Pietrusz, A, Fortunato, F, Houwen, S & ENMC 263rd Workshop Study Group 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

Sarkozy A, Quinlivan R, Bourke JP, Ferlini A, Barthélémy I, Cripe LH et al. 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. 2023;33(3):274-284. https://doi.org/10.1016/j.nmd.2023.01.003

Sarkozy, Anna ; Quinlivan, Rosaline ; Bourke, John P. ; Ferlini, Alessandra ; Barthélémy, Inès ; Cripe, Linda H. ; Reuben, Emily ; Evangelista, Teresinha ; Florian, Anca ; Gribnau, Josh ; Gonzalez-Quereda, Lidia ; Guglieri, Michela ; Niks, Erik ; Phadke, Rahul ; Politano, Luisa ; Quinlivan, Ros ; Vissing, John ; Voermans, Nicol ; Vroom, Elizabeth ; Pietrusz, Aleksandra ; Fortunato, Fernanda ; Houwen, Saskia ; ENMC 263rd Workshop Study Group. / 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. In: Neuromuscular Disorders. 2023 ; Vol. 33, No. 3. pp. 274-284.

@inproceedings{edb93afada7b48ed9391e50e923aeadd,

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 = "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 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 and {ENMC 263rd Workshop Study Group}",

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.; 263rd ENMC International Workshop ; Conference date: 13-05-2022 Through 15-05-2022",

year = "2023",

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

language = "English",

volume = "33",

pages = "274--284",

journal = "Journal of Neuromuscular Diseases",

issn = "0960-8966",

publisher = "Elsevier",

number = "3",

}

TY - GEN

T1 - 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

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 - 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

AU - ENMC 263rd Workshop Study Group

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

Y1 - 2023

U2 - 10.1016/j.nmd.2023.01.003

DO - 10.1016/j.nmd.2023.01.003

M3 - Conference article

C2 - 36804616

AN - SCOPUS:85150079779

VL - 33

SP - 274

EP - 284

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

SN - 0960-8966

IS - 3

T2 - 263rd ENMC International Workshop

Y2 - 13 May 2022 through 15 May 2022

ER -