TY  - GEN
AU  - Maciel,P
AU  - Cruz,V T
AU  - Constante,M
AU  - Iniesta,I
AU  - Costa,M C
AU  - Gallati,S
AU  - Sousa,N
AU  - Sequeiros,J
AU  - Coutinho,P
AU  - Santos,M M
TI  - Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
SN  - 1526-632X
PY  - 2006///0123
KW  - Adult
KW  - Age of Onset
KW  - Ataxia
KW  - diagnosis
KW  - Atrophy
KW  - Basal Ganglia Diseases
KW  - Cerebellum
KW  - metabolism
KW  - Cerebral Cortex
KW  - Cognition Disorders
KW  - DNA Mutational Analysis
KW  - Female
KW  - Ferritins
KW  - genetics
KW  - Genetic Testing
KW  - Globus Pallidus
KW  - Humans
KW  - Iron Metabolism Disorders
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Neurocognitive Disorders
KW  - Neurodegenerative Diseases
KW  - Parkinsonian Disorders
KW  - Pedigree
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000178224.81169.c2
ER  -