Literature DB >> 20583173

Seize the day: Newborn screening for SMA.

Kathryn J Swoboda1.   

Abstract

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Year:  2010        PMID： 20583173     DOI： 10.1002/ajmg.a.33519

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  Temporal requirement for high SMN expression in SMA mice.

Authors:  Thanh T Le; Vicki L McGovern; Isaac E Alwine; Xueyong Wang; Aurelie Massoni-Laporte; Mark M Rich; Arthur H M Burghes
Journal:  Hum Mol Genet       Date:  2011-06-13       Impact factor: 6.150

2.  Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival?

Authors:  Tara J Lemoine; Kathryn J Swoboda; Susan L Bratton; Richard Holubkov; Michael Mundorff; Rajendu Srivastava
Journal:  Pediatr Crit Care Med       Date:  2012-05       Impact factor: 3.624

3.  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

Review 4.  [Spinal muscular atrophy : Time for newborn screening?]

Authors:  K Vill; A Blaschek; U Schara; H Kölbel; K Hohenfellner; E Harms; B Olgemöller; Maggie C Walter; W Müller-Felber
Journal:  Nervenarzt       Date:  2017-12       Impact factor: 1.214

5.  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

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

7.  Newborn screening for spinal muscular atrophy: The views of affected families and adults.

Authors:  Felicity K Boardman; Philip J Young; Frances E Griffiths
Journal:  Am J Med Genet A       Date:  2017-04-04       Impact factor: 2.802
  7 in total

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