TY  - GEN
AU  - Markovitz,Rebecca
AU  - Ghosh,Rajarshi
AU  - Kuo,Molly E
AU  - Hong,William
AU  - Lim,Jaehyung
AU  - Bernes,Saunder
AU  - Manberg,Stephanie
AU  - Crosby,Kathleen
AU  - Tanpaiboon,Pranoot
AU  - Bharucha-Goebel,Diana
AU  - Bonnemann,Carsten
AU  - Mohila,Carrie A
AU  - Mizerik,Elizabeth
AU  - Woodbury,Suzanne
AU  - Bi,Weimin
AU  - Lotze,Timothy
AU  - Antonellis,Anthony
AU  - Xiao,Rui
AU  - Potocki,Lorraine
TI  - GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
SN  - 1552-4833
PY  - 2021///0112
KW  - Charcot-Marie-Tooth Disease
KW  - genetics
KW  - Child, Preschool
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Glycine-tRNA Ligase
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Muscular Atrophy, Spinal
KW  - Mutation, Missense
KW  - Phenotype
KW  - Spinal Muscular Atrophies of Childhood
KW  - diagnostic imaging
KW  - Survival of Motor Neuron 1 Protein
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1002/ajmg.a.61544
ER  -