TY  - GEN
AU  - Wolf,Nicole I
AU  - Vanderver,Adeline
AU  - van Spaendonk,Rosalina M L
AU  - Schiffmann,Raphael
AU  - Brais,Bernard
AU  - Bugiani,Marianna
AU  - Sistermans,Erik
AU  - Catsman-Berrevoets,Coriene
AU  - Kros,Johan M
AU  - Pinto,Pedro Soares
AU  - Pohl,Daniela
AU  - Tirupathi,Sandya
AU  - Strømme,Petter
AU  - de Grauw,Ton
AU  - Fribourg,Sébastien
AU  - Demos,Michelle
AU  - Pizzino,Amy
AU  - Naidu,Sakkubai
AU  - Guerrero,Kether
AU  - van der Knaap,Marjo S
AU  - Bernard,Geneviève
TI  - Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
SN  - 1526-632X
PY  - 2015///0126
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Cross-Sectional Studies
KW  - Female
KW  - Hereditary Central Nervous System Demyelinating Diseases
KW  - diagnosis
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mitochondrial Diseases
KW  - Mutation
KW  - genetics
KW  - RNA Polymerase III
KW  - Young Adult
N1  - Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/WNL.0000000000001002
ER  -