Literature DB >> 8664564

Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, The Netherlands, 10-12 March 1995.

T Munsat1, K Davies.   

Abstract

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Year:  1996        PMID: 8664564     DOI: 10.1016/0960-8966(95)00032-1

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


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  10 in total

1.  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

2.  Spectrum of neuropathophysiology in spinal muscular atrophy type I.

Authors:  Brian N Harding; Shingo Kariya; Umrao R Monani; Wendy K Chung; Maryjane Benton; Sabrina W Yum; Gihan Tennekoon; Richard S Finkel
Journal:  J Neuropathol Exp Neurol       Date:  2015-01       Impact factor: 3.685

3.  An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.

Authors:  Jennifer M Kwon; Kapil Arya; Nancy Kuntz; Han C Phan; Cory Sieburg; Kathryn J Swoboda; Aravindhan Veerapandiyan; Beverly Assman; Silvia Bader-Weder; Travis L Dickendesher; Jennifer Hansen; Helen Lin; Ying Yan; Vamshi K Rao
Journal:  Ann Clin Transl Neurol       Date:  2022-05-14       Impact factor: 5.430

4.  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

5.  Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Authors:  Gabriela E Oprea; Sandra Kröber; Michelle L McWhorter; Wilfried Rossoll; Stefan Müller; Michael Krawczak; Gary J Bassell; Christine E Beattie; Brunhilde Wirth
Journal:  Science       Date:  2008-04-25       Impact factor: 47.728

Review 6.  Spinal muscular atrophy.

Authors:  Maryam Oskoui; Petra Kaufmann
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

7.  Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.

Authors:  Richard S Finkel; Thomas O Crawford; Kathryn J Swoboda; Petra Kaufmann; Peter Juhasz; Xiaohong Li; Yu Guo; Rebecca H Li; Felicia Trachtenberg; Suzanne J Forrest; Dione T Kobayashi; Karen S Chen; Cynthia L Joyce; Thomas Plasterer
Journal:  PLoS One       Date:  2012-04-27       Impact factor: 3.240

8.  Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

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; Susan T Iannaccone; 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; 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 Clin Transl Neurol       Date:  2016-01-21       Impact factor: 4.511

9.  Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.

Authors:  Felicity K Boardman; Chloe Sadler; Philip J Young
Journal:  Mol Genet Genomic Med       Date:  2017-11-23       Impact factor: 2.183

10.  Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy.

Authors:  Giovanni Baranello; Ksenija Gorni; Monica Daigl; Anna Kotzeva; Rachel Evans; Neil Hawkins; David A Scott; Anadi Mahajan; Francesco Muntoni; Laurent Servais
Journal:  Clin Pharmacol Ther       Date:  2021-06-05       Impact factor: 6.903

  10 in total

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