Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

Brain and Development

Volumn 34, Issue 6, 2012, Pages 536-538

  Rossi, Daniela ^a   De Grandis, Elisa ^a   Barzaghi, Chiara ^b   Mascaretti, Monica ^a   Garavaglia, Barbara ^b   Zanotto, Elisabetta ^a   Morana, Giovanni ^a   Biancheri, Roberta ^a  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Basal ganglia; Magnetic resonance imaging; PANK2

Indexed keywords

PANTOTHENATE KINASE 2;

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL BIOLOGY; DEVELOPMENTAL DISORDER; DYSTONIA; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; MENTAL DEVELOPMENT; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROLOGIC EXAMINATION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PRESCHOOL CHILD;

AGE OF ONSET; BRAIN; CHILD, PRESCHOOL; GLOBUS PALLIDUS; HOMOZYGOTE; HUMANS; IRON; MAGNETIC RESONANCE IMAGING; MALE; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84858155272     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.09.010     Document Type: Article

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