Universal Newborn Screening for Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

Universal Newborn Screening for Spinal Muscular Atrophy

Published:2024-06-01 Issue:6 Volume:178 Page:520
ISSN:2168-6203
Container-title:JAMA Pediatrics
language:en
Short-container-title:JAMA Pediatr

Author:

Oskoui Maryam¹²,Dangouloff Tamara³,Servais Laurent³⁴

Affiliation:

1. Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada

2. Department of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada

3. Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, Liege, Belgium

4. Muscular Dystrophy UK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom

Publisher

American Medical Association (AMA)

Link

https://jamanetwork.com/journals/jamapediatrics/articlepdf/2817306/jamapediatrics_oskoui_2024_ed_240006_1716226339.63018.pdf

Reference16 articles.

1. Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go.;Dangouloff;Neuromuscul Disord,2021

2. Spinal muscular atrophy treatment in patients identified by newborn screening: a systematic review.;Aragon-Gawinska;Genes (Basel),2023

3. Discrepancy in redetermination of SMN2 copy numbers in children with SMA.;Schorling;Neurology,2019

4. Reader response: discrepancy in redetermination of SMN2 copy numbers in children with SMA.;Dangouloff;Neurology,2020

5. 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.;Abiusi;Neuromuscul Disord,2024

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1. SMA-Screening für Neugeborene;Monatsschrift Kinderheilkunde;2024-08-19

2. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy;European Journal of Paediatric Neurology;2024-07