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

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

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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",

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

note = "Cited By :13 Export Date: 19 March 2021 CODEN: NEDIE Correspondence Address: Tizzano, E.F.; Department of Clinical and Molecular Genetics, Pso. Vall d{\textquoteright} Hebron, 119-129, Spain; email: etizzano@vhebron.net",

year = "2020",

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

language = "English",

volume = "30",

pages = "93--103",

journal = "Neuromuscular Disord.",

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T1 - 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands

T2 - Neuromuscular Disorders

AU - Dangouloff, T.

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

N1 - Cited By :13 Export Date: 19 March 2021 CODEN: NEDIE Correspondence Address: Tizzano, E.F.; Department of Clinical and Molecular Genetics, Pso. Vall d’ Hebron, 119-129, Spain; email: etizzano@vhebron.net

PY - 2020

Y1 - 2020

KW - Newborn screening

KW - Pre-symptomatic

KW - Spinal muscular atrophy

KW - Conference Paper

KW - copy number variation

KW - cytoskeleton

KW - DNA extraction

KW - genetic screening

KW - genetic variability

KW - genotype

KW - health care need

KW - homozygosity

KW - human

KW - muscle action potential

KW - Netherlands

KW - neurofilament

KW - newborn screening

KW - phenotype

KW - priority journal

KW - quality of life

KW - real time polymerase chain reaction

KW - spinal muscular atrophy

KW - workshop

KW - newborn

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

DO - 10.1016/j.nmd.2019.11.002

M3 - Article

VL - 30

SP - 93

EP - 103

JO - Neuromuscular Disord.

JF - Neuromuscular Disord.

SN - 0960-8966

IS - 1

ER -