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Spinal Muscular Atrophy, Distal, X-Linked 3

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

Related topics

Related topics

5 relations
Congenital talipes varusDistal amyotrophyTalipes cavus

Broader (2)

Genetic Diseases, X-LinkedSpinal Muscular Atrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Report of a novel ATP7A mutation causing distal motor neuropathy
2018
2018
Extruded octenyl succinylated starch stabilized polyvinyl acetate latexes: A comparison between regular and waxy potato starch
2015
2015
X‐linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron
ATP7A is a copper‐transporting P‐type ATPase that is essential for cellular copper homeostasis. Loss‐of‐function mutations in the… 
2012
2012
Conditional Knockout of the Menkes Disease Copper Transporter Demonstrates Its Critical Role in Embryogenesis
The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality… 
2009
2009
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21
Objective: To clinically characterize and map the gene locus in a three-generation family with an X-linked adult-onset distal… 
Review
2009
Review
2009
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Classification of neuropathies into Charcot-Marie-Tooth syndrome (CMT, hereditary motor and sensory neuropathy) or purely motor… 
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