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

T. Dangouloff; A. Burghes; E.F. Tizzano; L. Servais; E. Bertini; F. Boemer; M. Hiligsmann; W. Mueller-Felber; D. Tiziano; P. Young; O. Germanenko; M. de Lemus; L. Ouillade; K. Rucinski; K. Stephenson; W. Farwell; K. Gorni; F. Hoffmann; M. Hjort; I. 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: Neuromuscular Disorders

T. Dangouloff, A. Burghes, E.F. Tizzano, L. Servais, E. Bertini, F. Boemer, M. Hiligsmann, W. Mueller-Felber, D. Tiziano, P. Young, O. Germanenko, M. de Lemus, L. Ouillade, K. Rucinski, K. Stephenson, W. Farwell, K. Gorni, F. Hoffmann, M. Hjort, I. KausarNBS SMA Study Group

Ospedale Pediatrico Bambino Gesu

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

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

Keywords

Newborn screening
Pre-symptomatic
Spinal muscular atrophy
Conference Paper
copy number variation
cytoskeleton
DNA extraction
genetic screening
genetic variability
genotype
health care need
homozygosity
human
muscle action potential
Netherlands
neurofilament
newborn screening
phenotype
priority journal
quality of life
real time polymerase chain reaction
spinal muscular atrophy
workshop
newborn
organization
Congresses as Topic
Humans
Infant, Newborn
Muscular Atrophy, Spinal
Neonatal Screening

Access to Document

10.1016/j.nmd.2019.11.002

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85077166094&doi=10.1016%2fj.nmd.2019.11.002&partnerID=40&md5=6960986963dbf1483aaecb13b03eb47e

Cite this

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., ... Group, NBS. SMA. S. (2020). 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands: Neuromuscular Disorders. Neuromuscular Disord., 30(1), 93-103. https://doi.org/10.1016/j.nmd.2019.11.002

244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands : Neuromuscular Disorders. / 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.; Kausar, I.; Group, NBS SMA Study.

In: Neuromuscular Disord., Vol. 30, No. 1, 2020, p. 93-103.

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

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 & Group, NBSSMAS 2020, '244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands: Neuromuscular Disorders', Neuromuscular Disord., vol. 30, no. 1, pp. 93-103. https://doi.org/10.1016/j.nmd.2019.11.002

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. ; Kausar, I. ; Group, NBS SMA Study. / 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands : Neuromuscular Disorders. In: Neuromuscular Disord. 2020 ; Vol. 30, No. 1. pp. 93-103.

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

keywords = "Newborn screening, Pre-symptomatic, Spinal muscular atrophy, Conference Paper, copy number variation, cytoskeleton, DNA extraction, genetic screening, genetic variability, genotype, health care need, homozygosity, human, muscle action potential, Netherlands, neurofilament, newborn screening, phenotype, priority journal, quality of life, real time polymerase chain reaction, spinal muscular atrophy, workshop, newborn, organization, Congresses as Topic, Humans, Infant, Newborn, Muscular Atrophy, Spinal, Neonatal Screening",

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AU - Burghes, A.

AU - Tizzano, E.F.

AU - Servais, L.

AU - Bertini, E.

AU - Boemer, F.

AU - Hiligsmann, M.

AU - Mueller-Felber, W.

AU - Tiziano, D.

AU - Young, P.

AU - Germanenko, O.

AU - de Lemus, M.

AU - Ouillade, L.

AU - Rucinski, K.

AU - Stephenson, K.

AU - Farwell, W.

AU - Gorni, K.

AU - Hoffmann, F.

AU - Hjort, M.

AU - Kausar, I.

AU - Group, NBS SMA Study

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PY - 2020

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KW - quality of life

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KW - organization

KW - Congresses as Topic

KW - Humans

KW - Infant, Newborn

KW - Muscular Atrophy, Spinal

KW - Neonatal Screening

U2 - 10.1016/j.nmd.2019.11.002

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