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2011, ISBN 9780444520142, Volume 100
Myoclonus dystonia syndrome (MDS) refers to a group of heterogeneous nondegenerative clinical conditions characterized by the association of myoclonus and... 
Dystonic Disorders - genetics | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Mutation - genetics | Humans | Molecular Chaperones - genetics
Book Chapter
International Review of Neurobiology, ISSN 0074-7742, 01/2013, Volume 110, pp. 153 - 164
Neurodegeneration with brain iron accumulation (NBIA) includes a heterogeneous group of genetically defined progressive disorders with iron accumulation in the... 
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2015, Volume 5, p. 78
Mutations in PARK2, encoding Parkin, cause an autosomal recessive form of juvenile Parkinson Disease (JPD). The aim of the present study was to investigate the... 
oxygen consumption | PARK2 | mitochondrial membrane potential | mitochondrial dynamics | Parkin | Oxygen consumption | Mitochondrial dynamics | Mitochondrial membrane potential | Parkinson Disease | parkin
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2015, Volume 13, Issue 4, p. 143
  The list of disorders that cause a movement disorder in the pediatric population is very wide, from benign transient conditions to several genetic and... 
Pediatrics
Journal Article
2013, ISBN 0444595651, Volume 113
The Neuroaxonal Dystrophies (NADs) are a group of clinically and genetically heterogeneous neurodegenerative conditions. These disorders show the unique... 
Pantothenate Kinase-Associated Neurodegeneration - diagnosis | Diagnosis, Differential | Neuroaxonal Dystrophies - diagnosis | Phenotype | Pantothenate Kinase-Associated Neurodegeneration - genetics | Humans | Infant | Mutation | Neuroaxonal Dystrophies - genetics | Child
Book Chapter
Reference
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 19
Background: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the... 
NCL Genes | Italy | Childhood NCL | Epidemiology | MEDICINE, RESEARCH & EXPERIMENTAL | CLN1 GENE | WEST | BATTEN-DISEASE | PATIENT | MUTATIONS | Molecular Epidemiology | Humans | Female | Italy - epidemiology | Male | Child | Neuronal Ceroid-Lipofuscinoses - epidemiology | Cohort Studies
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 06/2019, Volume 90, Issue 6, pp. 724 - 726
Correspondence to Dr Sarosh R Irani, John Radcliffe Hospital, Oxford OX3 9DU, UK; sarosh.irani@ndcn.ox.ac.uk Introduction N-methyl-D-aspartate receptor... 
autoantibody | movement disorders | autoimmune | NMDA receptor | encephalitis | SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | CHILDREN | Phenomenology | Video recordings | Encephalitis | Patents | Medical research | Convulsions & seizures | Researchers | Brain research | Immunotherapy | Patients | Age | 1506 | PostScript
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Journal Article