Literature DB >> 14683633

Spinal muscular atrophy.

Susan T Iannaccone1, Stephen A Smith, Louise R Simard.   

Abstract

Spinal muscular atrophy is a common genetic disease of the motor neuron (frequency of eight cases per 100,000 live births) with a high mortality during infancy and no known treatment. Death is caused by severe and progressive restrictive lung disease. New information regarding the nature and function of the SMN protein and the availability of new pharmacologic agents now make it possible to consider clinical trials in this disease. Rehabilitation and proper management of medical complications have improved both the quality and duration of life for children with spinal muscular atrophy.

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Year:  2004        PMID： 14683633     DOI： 10.1007/s11910-004-0016-6

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


  73 in total

1.  Preliminary observations on the reliability of the DCN-SMA Study Group methodology. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group.

Authors:  F Samaha; J D Cook; S T Iannaccone; B S Russman; R R Buncher; L Barker; K Burhans
Journal:  Muscle Nerve       Date:  1990       Impact factor: 3.217

2.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors:  L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal:  Nature       Date:  1990-04-05       Impact factor: 49.962

3.  Upright mobility system for spinal muscular atrophy patients.

Authors:  I M Siegel; M Silverman
Journal:  Arch Phys Med Rehabil       Date:  1984-07       Impact factor: 3.966

Review 4.  An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

Authors:  B Wirth
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

5.  Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

Authors:  S Rudnik-Schöneborn; R Forkert; E Hahnen; B Wirth; K Zerres
Journal:  Neuropediatrics       Date:  1996-02       Impact factor: 1.947

6.  Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

Authors:  Hafedh Haddad; Carmen Cifuentes-Diaz; Audrey Miroglio; Natacha Roblot; Vandana Joshi; Judith Melki
Journal:  Muscle Nerve       Date:  2003-10       Impact factor: 3.217

7.  Pulmonary function in spinal muscular atrophy.

Authors:  F J Samaha; C R Buncher; B S Russman; M L White; S T Iannaccone; L Barker; K Burhans; C Smith; B Perkins; L Zimmerman
Journal:  J Child Neurol       Date:  1994-07       Impact factor: 1.987

8.  Involvement of reactive oxygen species in aclarubicin-induced differentiation and invasiveness of HL-60 leukemia cells.

Authors:  Doriane Richard; Patrick Hollender; Benoît Chénais
Journal:  Int J Oncol       Date:  2002-08       Impact factor: 5.650

9.  Reliability of 4 outcome measures in pediatric spinal muscular atrophy.

Authors:  Susan T Iannaccone; Linda S Hynan
Journal:  Arch Neurol       Date:  2003-08

10.  Short-chain fatty acid derivatives induce fetal globin expression and erythropoiesis in vivo.

Authors:  Betty S Pace; Gary L White; George J Dover; Michael S Boosalis; Douglas V Faller; Susan P Perrine
Journal:  Blood       Date:  2002-08-15       Impact factor: 22.113
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  15 in total

1.  IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy.

Authors:  Michela Murdocca; Arianna Malgieri; Andrea Luchetti; Luciano Saieva; Gabriella Dobrowolny; Elvira de Leonibus; Antonio Filareto; Maria Chiara Quitadamo; Giuseppe Novelli; Antonio Musarò; Federica Sangiuolo
Journal:  Mol Med       Date:  2012-09-25       Impact factor: 6.354

2.  The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy.

Authors:  Lili Wan; Daniel J Battle; Jeongsik Yong; Amelie K Gubitz; Stephen J Kolb; Jin Wang; Gideon Dreyfuss
Journal:  Mol Cell Biol       Date:  2005-07       Impact factor: 4.272

3.  Compensatory axon sprouting for very slow axonal die-back in a transgenic model of spinal muscular atrophy type III.

Authors:  Esther Udina; Charles T Putman; Luke R Harris; Neil Tyreman; Victoria E Cook; Tessa Gordon
Journal:  J Physiol       Date:  2017-01-25       Impact factor: 5.182

Review 4.  Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

Authors:  Alberto Giannini; Anna Maria Pinto; Giordano Rossetti; Edi Prandi; Danilo Tiziano; Christina Brahe; Nardo Nardocci
Journal:  Intensive Care Med       Date:  2006-09-09       Impact factor: 17.440

5.  Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts.

Authors:  Virginia B Mattis; Ravi Rai; Jinhua Wang; Cheng-Wei T Chang; Tristan Coady; Christian L Lorson
Journal:  Hum Genet       Date:  2006-09-02       Impact factor: 4.132

6.  Resistance strength training exercise in children with spinal muscular atrophy.

Authors:  Aga Lewelt; Kristin J Krosschell; Gregory J Stoddard; Cindy Weng; Mei Xue; Robin L Marcus; Eduard Gappmaier; Louis Viollet; Barbara A Johnson; Andrea T White; Donata Viazzo-Trussell; Philippe Lopes; Robert H Lane; John C Carey; Kathryn J Swoboda
Journal:  Muscle Nerve       Date:  2015-10       Impact factor: 3.217

7.  Lymphotropic Herpesvirus saimiri uses the SMN complex to assemble Sm cores on its small RNAs.

Authors:  Tracey J Golembe; Jeongsik Yong; Daniel J Battle; Wenqin Feng; Lili Wan; Gideon Dreyfuss
Journal:  Mol Cell Biol       Date:  2005-01       Impact factor: 4.272

8.  Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development.

Authors:  Hongmei Zhang; Natallia Robinson; Chiayen Wu; Wenlan Wang; Melissa A Harrington
Journal:  PLoS One       Date:  2010-07-21       Impact factor: 3.240

9.  U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation.

Authors:  Daisuke Kaida; Michael G Berg; Ihab Younis; Mumtaz Kasim; Larry N Singh; Lili Wan; Gideon Dreyfuss
Journal:  Nature       Date:  2010-09-29       Impact factor: 49.962

Review 10.  Spinal muscular atrophy.

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