Results 211 to 220 of about 72,020 (228)
Some of the next articles are maybe not open access.

Spinal muscular atrophy

International Journal of Obstetric Anesthesia, 2003
Meganne E Leach   +2 more
openaire   +5 more sources

Spinal muscular atrophy

1996
Classification of the varying types of spinal muscular atrophy is somewhat confused as there are a number of different types. Werdnig Hoffman disease (infantile type or type 1) and Kugelberg—Welander (juvenile type or type 3) are the two most common types seen in childhood. (Type 2 is intermediate in severity between the two.)
openaire   +2 more sources

Spinal and bulbar muscular atrophy

2018
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor.
openaire   +3 more sources

CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES

The Lancet, 1980
Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis and genetic counselling. Comprehensive clinical and genetic analyses of 240 consecutive index cases from two English centres (The English SMA Study) have enabled some nosological questions to be resolved.
openaire   +3 more sources

Spinal muscular atrophy — insights and challenges in the treatment era

Nature Reviews Neurology, 2020
E. Mercuri   +4 more
semanticscholar   +1 more source

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