Literature DB >> 32978515

Spinal muscular atrophy - the dawning of a new era.

Michelle A Farrar1, Matthew C Kiernan2,3.   

Abstract

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Year:  2020        PMID： 32978515     DOI： 10.1038/s41582-020-00410-7

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


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  7 in total

1.  The survival motor neuron protein in spinal muscular atrophy.

Authors:  D D Coovert; T T Le; P E McAndrew; J Strasswimmer; T O Crawford; J R Mendell; S E Coulson; E J Androphy; T W Prior; A H Burghes
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

Review 2.  Great expectations: virus-mediated gene therapy in neurological disorders.

Authors:  Didu Kariyawasam; Ian E Alexander; Manju Kurian; Michelle Anne Farrar
Journal:  J Neurol Neurosurg Psychiatry       Date:  2020-06-05       Impact factor: 10.154

3.  Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Authors:  Richard S Finkel; Eugenio Mercuri; Basil T Darras; Anne M Connolly; Nancy L Kuntz; Janbernd Kirschner; Claudia A Chiriboga; Kayoko Saito; Laurent Servais; Eduardo Tizzano; Haluk Topaloglu; Már Tulinius; Jacqueline Montes; Allan M Glanzman; Kathie Bishop; Z John Zhong; Sarah Gheuens; C Frank Bennett; Eugene Schneider; Wildon Farwell; Darryl C De Vivo
Journal:  N Engl J Med       Date:  2017-11-02       Impact factor: 91.245

4.  The implementation of newborn screening for spinal muscular atrophy: the Australian experience.

Authors:  Didu S T Kariyawasam; Jacqueline S Russell; Veronica Wiley; Ian E Alexander; Michelle A Farrar
Journal:  Genet Med       Date:  2019-10-14       Impact factor: 8.822

5.  Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.

Authors:  Kyle A Beauchamp; Katherine A Johansen Taber; Dale Muzzey
Journal:  Genet Med       Date:  2019-02-14       Impact factor: 8.822

6.  Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.

Authors:  Darryl C De Vivo; Enrico Bertini; Kathryn J Swoboda; Wuh-Liang Hwu; Thomas O Crawford; Richard S Finkel; Janbernd Kirschner; Nancy L Kuntz; Julie A Parsons; Monique M Ryan; Russell J Butterfield; Haluk Topaloglu; Tawfeg Ben-Omran; Valeria A Sansone; Yuh-Jyh Jong; Francy Shu; John F Staropoli; Douglas Kerr; Alfred W Sandrock; Christopher Stebbins; Marco Petrillo; Gabriel Braley; Kristina Johnson; Richard Foster; Sarah Gheuens; Ishir Bhan; Sandra P Reyna; Stephanie Fradette; Wildon Farwell
Journal:  Neuromuscul Disord       Date:  2019-09-12       Impact factor: 4.296

7.  Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.

Authors:  Jacqueline Glascock; Jacinda Sampson; Anne M Connolly; Basil T Darras; John W Day; Richard Finkel; R Rodney Howell; Katherine W Klinger; Nancy Kuntz; Thomas Prior; Perry B Shieh; Thomas O Crawford; Douglas Kerr; Jill Jarecki
Journal:  J Neuromuscul Dis       Date:  2020
  7 in total
  7 in total

1.  Obligations of the "Gift": Reciprocity and Responsibility in Precision Medicine.

Authors:  Sandra Soo-Jin Lee
Journal:  Am J Bioeth       Date:  2020-12-16       Impact factor: 11.229

2.  Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.

Authors:  Arlene M D'Silva; Didu S T Kariyawasam; Stephanie Best; Veronica Wiley; Michelle A Farrar
Journal:  Dev Med Child Neurol       Date:  2021-11-28       Impact factor: 4.864

Review 3.  The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.

Authors:  Christina Q Nguyen; Kristine Alba-Concepcion; Elizabeth E Palmer; Jackie L Scully; Nicole Millis; Michelle A Farrar
Journal:  Orphanet J Rare Dis       Date:  2022-04-18       Impact factor: 4.303

4.  Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).

Authors:  Noman Paracha; Pollyanna Hudson; Stephen Mitchell; C Simone Sutherland
Journal:  Pharmacoeconomics       Date:  2021-10-18       Impact factor: 4.981

5.  Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.

Authors:  Noman Paracha; Pollyanna Hudson; Stephen Mitchell; C Simone Sutherland
Journal:  Pharmacoeconomics       Date:  2021-11-11       Impact factor: 4.981

Review 6.  Delivering paediatric precision medicine: Genomic and environmental considerations along the causal pathway of childhood neurodevelopmental disorders.

Authors:  Sue Woolfenden; Michelle A Farrar; Valsamma Eapen; Anne Masi; Claire E Wakefield; Nadia Badawi; Iona Novak; Natasha Nassar; Raghu Lingam; Russell C Dale
Journal:  Dev Med Child Neurol       Date:  2022-06-06       Impact factor: 4.864

7.  Neurology at the crossroads.

Authors: 
Journal:  Nat Rev Neurol       Date:  2020-11       Impact factor: 42.937
  7 in total

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