Beta-propeller protein-associated neurodegeneration: A new X-linked dominant disorder with brain iron accumulation

Brain

Volumn 136, Issue 6, 2013, Pages 1708-1717

  Hayflick, Susan J ^a,b   Kruer, Michael C ^c   Gregory, Allison ^a   Haack, Tobias B ^d,e   Kurian, Manju A ^f,g   Houlden, Henry H ^h   Anderson, James ^b   Boddaert, Nathalie ⁱ   Sanford, Lynn ^a   Harik, Sami I ^j   Dandu, Vasuki H ^j   Nardocci, Nardo ^k   Zorzi, Giovanna ^k   Dunaway, Todd ^l   Tarnopolsky, Mark ^m   Skinner, Steven ⁿ   Holden, Kenton R ⁿ   Frucht, Steven ^o   Hanspal, Era ^p   Schrander Stumpel, Connie ^q   Mignot, Cyril ^r   Héron, Delphine ^r   Saunders, Dawn E ^g   Kaminska, Margaret ^s   Lin, Jean Pierre ^s   Lascelles, Karine ^s   Cuno, Stephan M ^d,e   Meyer, Esther ^f   Garavaglia, Barbara ^k   Bhatia, Kailash ^t   De Silva, Rajith ^u   Crisp, Sarah ^u   Lunt, Peter ^v   Carey, Martyn ^w   Hardy, John ^h   Meitinger, Thomas ^d,e   Prokisch, Holger ^d,e   Hogarth, Penelope ^a,b   more..

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c Sanford Children's Health Research Center   (United States)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^k DEPARTMENT OF NEUROSURGERY   (Italy)

^l Neurology LLPC   (United States)

^m MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

ⁿ Greenwood Genetic Center   (United States)

^o MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^p ALBANY MEDICAL CENTER   (United States)

^q MAASTRICHT UNIVERSITY   (Netherlands)

^r PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^s EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^t UNIVERSITY COLLEGE LONDON   (United Kingdom)

^u QUEEN S HOSPITAL   (United Kingdom)

^v UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^w QUEEN ELIZABETH HOSPITAL   (United Kingdom)

more..

Author keywords

autophagy; basal ganglia; iron; NBIA; Rett syndrome

Indexed keywords

IRON; LEVODOPA;

ADOLESCENT; ADULT; BETA PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION; BRAIN RADIOGRAPHY; CLINICAL ARTICLE; COHORT ANALYSIS; COMORBIDITY; DEMENTIA; DEVELOPMENTAL DISORDER; DISEASE COURSE; DYSKINESIA; DYSTONIA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GLOBUS PALLIDUS; HUMAN; IDIOPATHIC DISEASE; MALE; MEDICAL HISTORY; MOTOR DYSFUNCTION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEIZURE; SLEEP DISORDER; SPASTICITY; SUBSTANTIA NIGRA;

EID: 84878841473     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt095     Document Type: Review

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