Literature DB >> 19760790

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.

Bakri Elsheikh1, Thomas Prior, Xiaoli Zhang, Robert Miller, Stephen J Kolb, Dan Moore, Walter Bradley, Richard Barohn, Wilson Bryan, Deborah Gelinas, Susan Iannaccone, Robert Leshner, Jerry R Mendell, Michelle Mendoza, Barry Russman, Stephen Smith, Wendy King, John T Kissel.   

Abstract

To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscular atrophy functional rating scale (SMAFRS) scores and were more likely to be non-ambulatory. There was, however, no difference between the groups in quantitative muscle strength or pulmonary function testing. Functional scale may be a more discriminating outcome measure for SMA clinical trials.

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Year:  2009        PMID： 19760790     DOI： 10.1002/mus.21350

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  30 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

Review 2.  Spinal muscular atrophy: diagnosis and management in a new therapeutic era.

Authors:  W David Arnold; Darine Kassar; John T Kissel
Journal:  Muscle Nerve       Date:  2014-12-16       Impact factor: 3.217

3.  Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA.

Authors:  Monique A Lorson; Lee D Spate; Melissa S Samuel; Clifton N Murphy; Christian L Lorson; Randall S Prather; Kevin D Wells
Journal:  Transgenic Res       Date:  2011-02-25       Impact factor: 2.788

4.  Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Authors:  Matthew E R Butchbach; Casey J Lumpkin; Ashlee W Harris; Luciano Saieva; Jonathan D Edwards; Eileen Workman; Louise R Simard; Livio Pellizzoni; Arthur H M Burghes
Journal:  Exp Neurol       Date:  2016-02-15       Impact factor: 5.330

5.  Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

Authors:  Steven F Dobrowolski; Ha T Pham; Frances Pouch Downes; Thomas W Prior; Edwin W Naylor; Kathy J Swoboda
Journal:  Clin Chem       Date:  2012-04-09       Impact factor: 8.327

6.  Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide.

Authors:  Matthew D Howell; Eric W Ottesen; Natalia N Singh; Rachel L Anderson; Ravindra N Singh
Journal:  Mol Ther       Date:  2017-04-13       Impact factor: 11.454

7.  Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.

Authors:  Jasmin E Martin; TrangKimberly T Nguyen; Christopher Grunseich; Jonathan H Nofziger; Philip R Lee; Douglas Fields; Kenneth H Fischbeck; Emily Foran
Journal:  J Neurosci       Date:  2017-04-27       Impact factor: 6.167

8.  A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

Authors:  Francine M Jodelka; Allison D Ebert; Dominik M Duelli; Michelle L Hastings
Journal:  Hum Mol Genet       Date:  2010-09-30       Impact factor: 6.150

9.  SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Authors:  John T Kissel; Bakri Elsheikh; Wendy M King; Miriam Freimer; Charles B Scott; Stephen J Kolb; Sandra P Reyna; Thomas O Crawford; Louise R Simard; Kristin J Krosschell; Gyula Acsadi; Mary K Schroth; Guy D'Anjou; Bernard LaSalle; Thomas W Prior; Susan Sorenson; Jo Anne Maczulski; Kathryn J Swoboda
Journal:  Muscle Nerve       Date:  2014-02       Impact factor: 3.217

Review 10.  Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Authors:  Irene Faravelli; Monica Nizzardo; Giacomo P Comi; Stefania Corti
Journal:  Nat Rev Neurol       Date:  2015-05-19       Impact factor: 42.937
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