TY  - GEN
AU  - Iacomino,Michele
AU  - Fiorillo,Chiara
AU  - Torella,Annalaura
AU  - Severino,Mariasavina
AU  - Broda,Paolo
AU  - Romano,Catia
AU  - Falsaperla,Raffaele
AU  - Pozzolini,Giulia
AU  - Minetti,Carlo
AU  - Striano,Pasquale
AU  - Nigro,Vincenzo
AU  - Zara,Federico
TI  - Spinal motor neuron involvement in a patient with homozygous PRUNE mutation
SN  - 1532-2130
PY  - 2018///0821
KW  - Brain Diseases
KW  - genetics
KW  - Carrier Proteins
KW  - Developmental Disabilities
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Motor Neurons
KW  - pathology
KW  - Muscular Atrophy, Spinal
KW  - Mutation
KW  - Nervous System Malformations
KW  - Phenotype
KW  - Phosphoric Monoester Hydrolases
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejpn.2017.12.005
ER  -