SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Annals of Neurology

Volumn 66, Issue 3, 2009, Pages 419-424

  Spiegel, Ronen ^a,b,c   Shaag, Avraham ^a   Edvardson, Simon ^a   Mandel, Hanna ^c   Stepensky, Polina ^a   Shalev, Stavit A ^b,c   Horovitz, Yoseph ^b,c   Pines, Ophry ^d   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b HAEMEK MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; GENE PRODUCT; MITOCHONDRIAL THIAMINE PYROPHOSPHATE TRANSPORTER; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; COGNITION; CORPUS STRIATUM; FEMALE; FLACCID PARALYSIS; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; MALE; MICROCEPHALY; MISSENSE MUTATION; NERVE CELL NECROSIS; NEUROPATHY; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD; SLC25A19 GENE;

ADOLESCENT; ADULT; BASAL GANGLIA DISEASES; CHILD; CORPUS STRIATUM; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; FEMALE; FUNCTIONAL LATERALITY; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NECROSIS; PEDIGREE; PHENOTYPE; POLYNEUROPATHIES;

EID: 70350070203     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21752     Document Type: Article

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