SPINAL MUSCULAR ATROPHY, JOKELA TYPE

Known as: SMAJ 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2015-2015
01220152015

Papers overview

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2016
2016
OBJECTIVES Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of… (More)
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2016
2016
Divergent phenotypes in different individuals carrying an identical genetic defect are well known to occur in several… (More)
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2016
2016
The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron… (More)
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2015
2015
OBJECTIVE A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN… (More)
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2015
2015
OBJECTIVE We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G… (More)
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