Literature DB >> 29348544

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy.

Enrico Bertini1, Eugenio Mercuri2.   

Abstract

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Year:  2018        PMID： 29348544     DOI： 10.1038/nrneurol.2017.189

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


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  10 in total

1.  209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

Authors:  Richard Finkel; Enrico Bertini; Francesco Muntoni; Eugenio Mercuri
Journal:  Neuromuscul Disord       Date:  2015-04-28       Impact factor: 4.296

2.  Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

Authors:  Roberto De Sanctis; Marika Pane; Giorgia Coratti; Concetta Palermo; Daniela Leone; Maria Carmela Pera; Emanuela Abiusi; Stefania Fiori; Nicola Forcina; Lavinia Fanelli; Simona Lucibello; Elena S Mazzone; Francesco Danilo Tiziano; Eugenio Mercuri
Journal:  Neuromuscul Disord       Date:  2017-10-10       Impact factor: 4.296

3.  Natural history of infantile-onset spinal muscular atrophy.

Authors:  Stephen J Kolb; Christopher S Coffey; Jon W Yankey; Kristin Krosschell; W David Arnold; Seward B Rutkove; Kathryn J Swoboda; Sandra P Reyna; Ai Sakonju; Basil T Darras; Richard Shell; Nancy Kuntz; Diana Castro; Julie Parsons; Anne M Connolly; Claudia A Chiriboga; Craig McDonald; W Bryan Burnette; Klaus Werner; Mathula Thangarajh; Perry B Shieh; Erika Finanger; Merit E Cudkowicz; Michelle M McGovern; D Elizabeth McNeil; Richard Finkel; Susan T Iannaccone; Edward Kaye; Allison Kingsley; Samantha R Renusch; Vicki L McGovern; Xueqian Wang; Phillip G Zaworski; Thomas W Prior; Arthur H M Burghes; Amy Bartlett; John T Kissel
Journal:  Ann Neurol       Date:  2017-12-08       Impact factor: 10.422

4.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Authors:  Markus Feldkötter; Verena Schwarzer; Radu Wirth; Thomas F Wienker; Brunhilde Wirth
Journal:  Am J Hum Genet       Date:  2001-12-21       Impact factor: 11.025

5.  Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

Authors:  Jerry R Mendell; Samiah Al-Zaidy; Richard Shell; W Dave Arnold; Louise R Rodino-Klapac; Thomas W Prior; Linda Lowes; Lindsay Alfano; Katherine Berry; Kathleen Church; John T Kissel; Sukumar Nagendran; James L'Italien; Douglas M Sproule; Courtney Wells; Jessica A Cardenas; Marjet D Heitzer; Allan Kaspar; Sarah Corcoran; Lyndsey Braun; Shibi Likhite; Carlos Miranda; Kathrin Meyer; K D Foust; Arthur H M Burghes; Brian K Kaspar
Journal:  N Engl J Med       Date:  2017-11-02       Impact factor: 91.245

6.  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

Review 7.  Childhood spinal muscular atrophy: controversies and challenges.

Authors:  Eugenio Mercuri; Enrico Bertini; Susan T Iannaccone
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

8.  Observational study of spinal muscular atrophy type I and implications for clinical trials.

Authors:  Richard S Finkel; Michael P McDermott; Petra Kaufmann; Basil T Darras; Wendy K Chung; Douglas M Sproule; Peter B Kang; A Reghan Foley; Michelle L Yang; William B Martens; Maryam Oskoui; Allan M Glanzman; Jean Flickinger; Jacqueline Montes; Sally Dunaway; Jessica O'Hagen; Janet Quigley; Susan Riley; Maryjane Benton; Patricia A Ryan; Megan Montgomery; Jonathan Marra; Clifton Gooch; Darryl C De Vivo
Journal:  Neurology       Date:  2014-07-30       Impact factor: 9.910

9.  Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.

Authors:  K Zerres; S Rudnik-Schöneborn
Journal:  Arch Neurol       Date:  1995-05

10.  Developmental milestones in type I spinal muscular atrophy.

Authors:  Roberto De Sanctis; Giorgia Coratti; Amy Pasternak; Jacqueline Montes; Marika Pane; Elena S Mazzone; Sally Dunaway Young; Rachel Salazar; Janet Quigley; Maria C Pera; Laura Antonaci; Leonardo Lapenta; Allan M Glanzman; Danilo Tiziano; Francesco Muntoni; Basil T Darras; Darryl C De Vivo; Richard Finkel; Eugenio Mercuri
Journal:  Neuromuscul Disord       Date:  2016-10-05       Impact factor: 4.296
  10 in total
  2 in total

1.  Systemic nature of spinal muscular atrophy revealed by studying insurance claims.

Authors:  Scott L Lipnick; Denis M Agniel; Rahul Aggarwal; Nina R Makhortova; Samuel G Finlayson; Alexandra Brocato; Nathan Palmer; Basil T Darras; Isaac Kohane; Lee L Rubin
Journal:  PLoS One       Date:  2019-03-14       Impact factor: 3.240

2.  RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.

Authors:  Richard S Finkel; John W Day; Darryl C De Vivo; Janbernd Kirschner; Eugenio Mercuri; Francesco Muntoni; Perry B Shieh; Eduardo Tizzano; Isabelle Desguerre; Susana Quijano-Roy; Kayoko Saito; Marcus Droege; Omar Dabbous; Farid Khan; Lydie Renault; Frederick A Anderson; Laurent Servais
Journal:  J Neuromuscul Dis       Date:  2020
  2 in total

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