Literature DB >> 31882184

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

Tamara Dangouloff1, Arthur Burghes2, Eduardo F Tizzano3, Laurent Servais4.   

Abstract

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Copyright © 2019 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Newborn screening; Pre-symptomatic; Spinal muscular atrophy

Year:  2019        PMID： 31882184     DOI： 10.1016/j.nmd.2019.11.002

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  15 in total

1.  Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.

Authors:  Kevin A Strauss; Michelle A Farrar; Francesco Muntoni; Kayoko Saito; Jerry R Mendell; Laurent Servais; Hugh J McMillan; Richard S Finkel; Kathryn J Swoboda; Jennifer M Kwon; Craig M Zaidman; Claudia A Chiriboga; Susan T Iannaccone; Jena M Krueger; Julie A Parsons; Perry B Shieh; Sarah Kavanagh; Sitra Tauscher-Wisniewski; Bryan E McGill; Thomas A Macek
Journal:  Nat Med       Date:  2022-06-17       Impact factor: 87.241

2.  Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al.

Authors:  Tamara Dangouloff; François Boemer; Jean-Hubert Caberg; Laurent Servais
Journal:  Genet Med       Date:  2020-06-30       Impact factor: 8.822

3.  Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice.

Authors:  Kaitlyn M Kray; Vicki L McGovern; Deepti Chugh; W David Arnold; Arthur H M Burghes
Journal:  Neurobiol Dis       Date:  2021-08-20       Impact factor: 5.996

4.  Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.

Authors:  Eve Fouarge; Arnaud Monseur; Bruno Boulanger; Mélanie Annoussamy; Andreea M Seferian; Silvana De Lucia; Charlotte Lilien; Leen Thielemans; Khazal Paradis; Belinda S Cowling; Chris Freitag; Bradley P Carlin; Laurent Servais
Journal:  Orphanet J Rare Dis       Date:  2021-01-06       Impact factor: 4.123

5.  Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.

Authors:  Yogik Onky Silvana Wijaya; Jamiyan Purevsuren; Nur Imma Fatimah Harahap; Emma Tabe Eko Niba; Yoshihiro Bouike; Dian Kesumapramudya Nurputra; Mawaddah Ar Rochmah; Cempaka Thursina; Sunartini Hapsara; Seiji Yamaguchi; Hisahide Nishio; Masakazu Shinohara
Journal:  Int J Neonatal Screen       Date:  2020-05-29

6.  25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.

Authors:  Francesco Danilo Tiziano; Eduardo F Tizzano
Journal:  Acta Myol       Date:  2020-12-01

Review 7.  Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.

Authors:  Tamara Dangouloff; Camille Botty; Charlotte Beaudart; Laurent Servais; Mickaël Hiligsmann
Journal:  Orphanet J Rare Dis       Date:  2021-01-23       Impact factor: 4.123

Review 8.  Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.

Authors:  Maria Jędrzejowska
Journal:  Degener Neurol Neuromuscul Dis       Date:  2020-12-15

9.  European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.

Authors:  Janbernd Kirschner; Nina Butoianu; Nathalie Goemans; Jana Haberlova; Anna Kostera-Pruszczyk; Eugenio Mercuri; W Ludo van der Pol; Susana Quijano-Roy; Thomas Sejersen; Eduardo F Tizzano; Andreas Ziegler; Laurent Servais; Francesco Muntoni
Journal:  Eur J Paediatr Neurol       Date:  2020-07-09       Impact factor: 3.140

Review 10.  New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?

Authors:  Tai-Heng Chen
Journal:  Int J Mol Sci       Date:  2020-05-07       Impact factor: 5.923
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