Literature DB >> 5439897

Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia.

S H Quarfordt, D C DeVivo, W K Engel, R I Levy, D S Fredrickson.   

Abstract

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Year:  1970        PMID： 5439897     DOI： 10.1001/archneur.1970.00480240061009

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  7 in total

Review 1.  The nosology of the spinal muscular atrophies.

Authors:  A E Emery
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

2.  X-linked adult form of spinal muscular atrophy.

Authors:  I Hausmanowa-Petrusewicz; J Borkowska; Z Janczewski
Journal:  J Neurol       Date:  1983       Impact factor: 4.849

3.  Glucose metabolism and pancreatic defects in spinal muscular atrophy.

Authors:  Melissa Bowerman; Kathryn J Swoboda; John-Paul Michalski; Gen-Sheng Wang; Courtney Reeks; Ariane Beauvais; Kelley Murphy; John Woulfe; Robert A Screaton; Fraser W Scott; Rashmi Kothary
Journal:  Ann Neurol       Date:  2012-08       Impact factor: 10.422

4.  Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.

Authors:  Lisa M Walter; Christiane E Koch; Corinne A Betts; Nina Ahlskog; Katharina E Meijboom; Tirsa L E van Westering; Gareth Hazell; Amarjit Bhomra; Peter Claus; Henrik Oster; Matthew J A Wood; Melissa Bowerman
Journal:  Hum Mol Genet       Date:  2018-10-15       Impact factor: 6.150

5.  Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.

Authors:  Melissa Bowerman; John-Paul Michalski; Ariane Beauvais; Lyndsay M Murray; Yves DeRepentigny; Rashmi Kothary
Journal:  Hum Mol Genet       Date:  2014-02-04       Impact factor: 6.150

Review 6.  ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets.

Authors:  Emmanuelle Coque; Cédric Raoul; Mélissa Bowerman
Journal:  Front Neurosci       Date:  2014-08-28       Impact factor: 4.677

Review 7.  Metabolic Dysfunction in Spinal Muscular Atrophy.

Authors:  Marc-Olivier Deguise; Lucia Chehade; Rashmi Kothary
Journal:  Int J Mol Sci       Date:  2021-05-31       Impact factor: 5.923
  7 in total

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