Spinal Muscular Atrophy, Distal, X-Linked 3

Known as: DSMAX, SMAX3, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE 
 
National Institutes of Health

Papers overview

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2019
2019
We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and… Expand
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2015
2015
ATP7A is a copper-transporting P-type ATPase that is essential for cellular copper homeostasis. Loss-of-function mutations in the… Expand
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2015
2015
Poly- and nanocrystalline manganite composites (1/3)La0.7Ca0.3MnO3/(2/3)La0.8Sr0.2MnO3 prepared by the sol–gel method are studied… Expand
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2012
2012
The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality… Expand
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2009
2009
OBJECTIVE To clinically characterize and map the gene locus in a three-generation family with an X-linked adult-onset distal… Expand
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Review
2009
Review
2009
Classification of neuropathies into Charcot-Marie-Tooth syndrome (CMT, hereditary motor and sensory neuropathy) or purely motor… Expand
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2008
2008
PURPOSE To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence… Expand
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2006
2006
Creating proper 3D models plays an important pole in the development of scene simulation system based on multigen creator and… Expand
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