PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

Molecular Genetics and Metabolism

Volumn 112, Issue 2, 2014, Pages 183-189

  Illingworth, M A ^a   Meyer, E ^b   Chong, W K ^a   Manzur, A Y ^a   Carr, L J ^a   Younis, R ^c   Hardy, C ^c   McDonald, F ^c   Childs, A M ^d   Stewart, B ^e   Warren, D ^f   Kneen, R ^g   King, M D ^h   Hayflick, S J ⁱ   Kurian, M A ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d LEEDS GENERAL INFIRMARY   (United Kingdom)

^e YORK TEACHING HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^f LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^g ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^h CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

INAD; NBIA; Neurodegeneration with brain iron accumulation; PLA2G6; PLAN

Indexed keywords

BACLOFEN; ERYTHROMYCIN; IRON; OMEPRAZOLE; PHOSPHOLIPASE A2 GROUP VI; PLA2G6 PROTEIN, HUMAN;

ADOLESCENT; APNEA; APRAXIA; ARTICLE; BRAIN SCINTISCANNING; BULBAR PARALYSIS; CEREBELLUM; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM; DYSARTHRIA; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EXTRAPYRAMIDAL SYMPTOM; EYE MOVEMENT; FEMALE; GAIT DISORDER; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GLIOSIS; GLOBUS PALLIDUS; GRAY MATTER; HUMAN; HYPERSALIVATION; MALE; MENTAL DISEASE; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MYELINATION; NEUROAXONAL DYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC CHIASM; OPTIC NERVE ATROPHY; OPTIC TRACT; PHENOTYPE; PHOSPHOLIPASE A2 GROUP VI ASSOCIATED NEURODEGENERATION; PONS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPASTICITY; STRABISMUS; WHITE MATTER; BRAIN; GENETIC VARIABILITY; GENETICS; INFANT; IRELAND; MUTATION; ONSET AGE; PATHOLOGY; RADIOGRAPHY; UNITED KINGDOM;

AGE OF ONSET; BRAIN; CHILD, PRESCHOOL; FEMALE; GENETIC VARIATION; GREAT BRITAIN; GROUP VI PHOSPHOLIPASES A2; HUMANS; INFANT; IRELAND; MALE; MUTATION; NEUROAXONAL DYSTROPHIES; PHENOTYPE;

EID: 84901637005     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.03.008     Document Type: Article

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