|
Volumn 258, Issue 2, 2011, Pages 335-337
|
Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations
d
CH de Calais
*
(France)
|
Author keywords
[No Author keywords available]
|
Indexed keywords
LACTIC ACID;
ADULT;
CASE REPORT;
CEREBELLAR ATAXIA;
DARS2 GENE;
EXON;
FEMALE;
HETEROZYGOSITY;
HUMAN;
HUMAN GENOME;
LACTATE BLOOD LEVEL;
LETTER;
LEUKOENCEPHALOPATHY;
LEUKOENCEPHALOPHATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND HIGH BRAIN LACTATE;
LIMB TREMOR;
MISSENSE MUTATION;
NEUROIMAGING;
NEUROLOGIC EXAMINATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY;
PEDIGREE ANALYSIS;
PRIORITY JOURNAL;
PROPRIOCEPTION;
SEQUENCE ANALYSIS;
SPASTIC PARAPLEGIA;
VIBRATION SENSE;
WALKING DIFFICULTY;
WHITE MATTER;
ADULT;
ASPARTATE-TRNA LIGASE;
BASE SEQUENCE;
BRAIN;
FEMALE;
HUMANS;
LEUKOENCEPHALOPATHIES;
MAGNETIC RESONANCE IMAGING;
MALE;
PEDIGREE;
POINT MUTATION;
YOUNG ADULT;
|
EID: 79953787680
PISSN: 03405354
EISSN: 14321459
Source Type: Journal
DOI: 10.1007/s00415-010-5755-5 Document Type: Letter |
Times cited : (35)
|
References (7)
|