244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands

Tamara Dangouloff; Arthur Burghes; Eduardo F. Tizzano; Laurent Servais; Enrico Bertini; François Boemer; Mickaël Hiligsmann; Wolfgang Mueller-Felber; Danilo Tiziano; Philip Young; Olga Germanenko; Mencia de Lemus; Laetitia Ouillade; Kasper Rucinski; Kristin Stephenson; Wildon Farwell; Ksenija Gorni; F. Hoffmann; Mikael Hjort; Imran Kausar; NBS SMA Study Group

doi:10.1016/j.nmd.2019.11.002

244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands

Tamara Dangouloff, Arthur Burghes, Eduardo F. Tizzano^*, Laurent Servais^*, Enrico Bertini, François Boemer, Mickaël Hiligsmann, Wolfgang Mueller-Felber, Danilo Tiziano, Philip Young, Olga Germanenko, Mencia de Lemus, Laetitia Ouillade, Kasper Rucinski, Kristin Stephenson, Wildon Farwell, Ksenija Gorni, F. Hoffmann, Mikael Hjort, Imran KausarNBS SMA Study Group

^*Corresponding author for this work

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

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Original language	English
Pages (from-to)	93-103
Number of pages	11
Journal	Neuromuscular Disorders
Volume	30
Issue number	1
DOIs	https://doi.org/10.1016/j.nmd.2019.11.002
Publication status	Published - 1 Jan 2020

Keywords

Newborn screening
Pre-symptomatic
Spinal muscular atrophy

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10.1016/j.nmd.2019.11.002

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Dangouloff, T., Burghes, A., Tizzano, E. F., Servais, L., Bertini, E., Boemer, F., Hiligsmann, M., Mueller-Felber, W., Tiziano, D., Young, P., Germanenko, O., de Lemus, M., Ouillade, L., Rucinski, K., Stephenson, K., Farwell, W., Gorni, K., Hoffmann, F., Hjort, M., ... NBS SMA Study Group (2020). 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands. Neuromuscular Disorders, 30(1), 93-103. https://doi.org/10.1016/j.nmd.2019.11.002

@article{3d1120bf9acd49debc7aaebe91917bd9,

title = "244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands",

keywords = "Newborn screening, Pre-symptomatic, Spinal muscular atrophy",

author = "Tamara Dangouloff and Arthur Burghes and Tizzano, \{Eduardo F.\} and Laurent Servais and Enrico Bertini and Fran{\c c}ois Boemer and Micka{\"e}l Hiligsmann and Wolfgang Mueller-Felber and Danilo Tiziano and Philip Young and Olga Germanenko and \{de Lemus\}, Mencia and Laetitia Ouillade and Kasper Rucinski and Kristin Stephenson and Wildon Farwell and Ksenija Gorni and F. Hoffmann and Mikael Hjort and Imran Kausar and \{NBS SMA Study Group\}",

note = "Funding Information: The organizers warmly acknowledge the staff of ENMC: Alexandra Breukel, Managing Director and Annelies Zittersteijn, Operational Manager. This 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 Spierfonds (The Netherlands), Schweizerische Stiftung f{\"u}r die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland) and {\"O}sterreichische Muskelforschung (Austria). The ENMC is also grateful for the support of MDA USA and SMA Europe. Special thanks are extended to the members of the ENMC Company Forum: Amicus Therapeutics, AveXis, Biogen, CSL Behring, Ionis Pharmaceuticals, PerkinElmer, Roche, Sanofi Genzyme, Sanquin Plasma Products, Santhera Pharmaceuticals, and other partner organizations for their support of the ENMC workshops. Funding Information: The organizers warmly acknowledge the staff of ENMC: Alexandra Breukel, Managing Director and Annelies Zittersteijn, Operational Manager. This 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 Spierfonds (The Netherlands), Schweizerische Stiftung f{\"u}r die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland) and {\"O}sterreichische Muskelforschung (Austria).",

year = "2020",

month = jan,

day = "1",

doi = "10.1016/j.nmd.2019.11.002",

language = "English",

volume = "30",

pages = "93--103",

journal = "Neuromuscular Disorders",

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publisher = "Elsevier Ltd",

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Dangouloff, T, Burghes, A, Tizzano, EF, Servais, L, Bertini, E, Boemer, F, Hiligsmann, M, Mueller-Felber, W, Tiziano, D, Young, P, Germanenko, O, de Lemus, M, Ouillade, L, Rucinski, K, Stephenson, K, Farwell, W, Gorni, K, Hoffmann, F, Hjort, M, Kausar, I & NBS SMA Study Group 2020, '244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands', Neuromuscular Disorders, vol. 30, no. 1, pp. 93-103. https://doi.org/10.1016/j.nmd.2019.11.002

TY - JOUR

T1 - 244th ENMC international workshop

T2 - Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands

AU - Dangouloff, Tamara

AU - Burghes, Arthur

AU - Tizzano, Eduardo F.

AU - Servais, Laurent

AU - Bertini, Enrico

AU - Boemer, François

AU - Hiligsmann, Mickaël

AU - Mueller-Felber, Wolfgang

AU - Tiziano, Danilo

AU - Young, Philip

AU - Germanenko, Olga

AU - de Lemus, Mencia

AU - Ouillade, Laetitia

AU - Rucinski, Kasper

AU - Stephenson, Kristin

AU - Farwell, Wildon

AU - Gorni, Ksenija

AU - Hoffmann, F.

AU - Hjort, Mikael

AU - Kausar, Imran

AU - NBS SMA Study Group

N1 - Funding Information: The organizers warmly acknowledge the staff of ENMC: Alexandra Breukel, Managing Director and Annelies Zittersteijn, Operational Manager. This 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 Spierfonds (The Netherlands), Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland) and Österreichische Muskelforschung (Austria). The ENMC is also grateful for the support of MDA USA and SMA Europe. Special thanks are extended to the members of the ENMC Company Forum: Amicus Therapeutics, AveXis, Biogen, CSL Behring, Ionis Pharmaceuticals, PerkinElmer, Roche, Sanofi Genzyme, Sanquin Plasma Products, Santhera Pharmaceuticals, and other partner organizations for their support of the ENMC workshops. Funding Information: The organizers warmly acknowledge the staff of ENMC: Alexandra Breukel, Managing Director and Annelies Zittersteijn, Operational Manager. This 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 Spierfonds (The Netherlands), Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland) and Österreichische Muskelforschung (Austria).

PY - 2020/1/1

Y1 - 2020/1/1

KW - Newborn screening

KW - Pre-symptomatic

KW - Spinal muscular atrophy

U2 - 10.1016/j.nmd.2019.11.002

DO - 10.1016/j.nmd.2019.11.002

M3 - Article

SN - 0960-8966

VL - 30

SP - 93

EP - 103

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 1

ER -