Markovitz, Rebecca <br/><br/>
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.  [electronic resource] 

 -  American journal of medical genetics. Part A  05 2020 
 - 1167-1176 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.61544  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Charcot-Marie-Tooth Disease--genetics<br/>Child, Preschool<br/>Female<br/>Genetic Predisposition to Disease<br/>Glycine-tRNA Ligase--genetics<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Muscular Atrophy, Spinal--genetics<br/>Mutation, Missense--genetics<br/>Phenotype<br/>Spinal Muscular Atrophies of Childhood--diagnostic imaging<br/>Survival of Motor Neuron 1 Protein--genetics