Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6)

American Journal of Medical Genetics, Part A

Volumn 164, Issue 3, 2014, Pages 815-819

  La Piana, Roberta ^a   Uggetti, Carla ^b   Olivieri, Ivana ^c   Tonduti, Davide ^d   Balottin, Umberto ^c,d   Fazzi, Elisa ^e   Orcesi, Simona ^c  

^a MCGILL UNIVERSITY   (Canada)

^b SAN CARLO BORROMEO HOSPITAL   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e UNIVERSITY OF BRESCIA   (Italy)

Author keywords

ADAR1; Aicardi Gouti res syndrome; Infantile bilateral striatal necrosis

Indexed keywords

ALPHA INTERFERON; LACTIC ACID;

ADAR1 GENE; AICARDI GOUTIERES SYNDROME; ARTICLE; BILATERAL STRIATAL NECROSIS; BRADYKINESIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; FEVER; GENE MUTATION; HUMAN; INFANT; INVOLUNTARY MOVEMENT; IRRITABILITY; LEUKODYSTROPHY; MALE; MICROCEPHALY; MUSCLE RIGIDITY; NECROSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SPASTICITY;

ADAR1; AICARDI-GOUTIÈRES SYNDROME; INFANTILE BILATERAL STRIATAL NECROSIS;

ADENOSINE DEAMINASE; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN; CHILD, PRESCHOOL; CORPUS STRIATUM; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NECROSIS; NERVOUS SYSTEM MALFORMATIONS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84894259907     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36360     Document Type: Article

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