Literature DB >> 8614490

From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy.

T O Crawford1.   

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Year:  1996        PMID： 8614490     DOI： 10.1212/wnl.46.2.335

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.

Authors:  B Schrank; R Götz; J M Gunnersen; J M Ure; K V Toyka; A G Smith; M Sendtner
Journal:  Proc Natl Acad Sci U S A       Date:  1997-09-02       Impact factor: 11.205

2.  Spinal muscular atrophy--type I.

Authors:  M K M Hardart; R D Truog
Journal:  Arch Dis Child       Date:  2003-10       Impact factor: 3.791

Review 3.  Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.

Authors:  Jonathan J Cherry; Dione T Kobayashi; Maureen M Lynes; Nikolai N Naryshkin; Francesco Danilo Tiziano; Phillip G Zaworski; Lee L Rubin; Jill Jarecki
Journal:  Assay Drug Dev Technol       Date:  2014-08       Impact factor: 1.738

4.  Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy.

Authors:  Kristin J Krosschell; Charles B Scott; Jo Anne Maczulski; Aga J Lewelt; Sandra P Reyna; Kathryn J Swoboda
Journal:  Muscle Nerve       Date:  2011-06-22       Impact factor: 3.217

5.  Motor unit number estimation in infants and children with spinal muscular atrophy.

Authors:  Mark B Bromberg; Kathryn J Swoboda
Journal:  Muscle Nerve       Date:  2002-03       Impact factor: 3.217

6.  Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.

Authors:  Sibylle Jablonka; Bettina Holtmann; Gunter Meister; Michael Bandilla; Wilfried Rossoll; Utz Fischer; Michael Sendtner
Journal:  Proc Natl Acad Sci U S A       Date:  2002-06-28       Impact factor: 11.205
  6 in total

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