Title |
Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid
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Published in |
BMC Neurology, March 2011
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DOI | 10.1186/1471-2377-11-36 |
Pubmed ID | |
Authors |
Illora A Darbar, Paulo G Plaggert, Maria Bernadete D Resende, Edmar Zanoteli, Umbertina C Reed |
Abstract |
Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior horn, resulting in hypotonia and muscle weakness. The disease is caused by deletion or mutation in the telomeric copy of SMN gene (SMN1) and clinical severity is in part determined by the copy number of the centromeric copy of the SMN gene (SMN2). The SMN2 mRNA lacks exon 7, resulting in a production of lower amounts of the full-length SMN protein. Knowledge of the molecular mechanism of diseases has led to the discovery of drugs capable of increasing SMN protein level through activation of SMN2 gene. One of these drugs is the valproic acid (VPA), a histone deacetylase inhibitor. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 3 | 3% |
Spain | 1 | <1% |
Germany | 1 | <1% |
Unknown | 101 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 17 | 16% |
Student > Master | 15 | 14% |
Student > Ph. D. Student | 10 | 9% |
Student > Postgraduate | 8 | 8% |
Student > Doctoral Student | 8 | 8% |
Other | 15 | 14% |
Unknown | 33 | 31% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 21 | 20% |
Nursing and Health Professions | 13 | 12% |
Agricultural and Biological Sciences | 9 | 8% |
Neuroscience | 7 | 7% |
Sports and Recreations | 6 | 6% |
Other | 14 | 13% |
Unknown | 36 | 34% |