Spinal Muscular Atrophy, Distal, X-Linked 3

Known as: DSMAX, SMAX3, Spinal Muscular Atrophy, Distal, X-Linked Recessive 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2008-2015
0120082015

Papers overview

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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… (More)
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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… (More)
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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… (More)
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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… (More)
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2008
2008
PURPOSE To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence… (More)
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