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European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 20, Issue 4, pp. 604 - 610
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 21, Issue 2, pp. 269 - 271
Abstract Background mutations in HPCA , a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases... 
Pediatrics | Neurology | DYT2 | Dystonia | Recessive | Isolated | Pediatric | HPCA | PROTEIN | PEDIATRICS | PRIMARY TORSION DYSTONIA | MUTATIONS | CLINICAL NEUROLOGY | FAMILY | Dystonia - genetics | Young Adult | Hippocalcin - genetics | Genetic Testing | Humans | Adolescent | Age of Onset | Adult | Female | Male | Mutation | Child | Nucleotide sequencing | Genetic screening | DNA sequencing
Journal Article
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2018, Volume 13, Issue 1, pp. 135 - 11
Journal Article
neurogenetics, ISSN 1364-6745, 7/2017, Volume 18, Issue 3, pp. 175 - 178
Journal Article
Movement Disorders, ISSN 0885-3185, 10/2019, Volume 34, Issue 10, pp. 1516 - 1527
Background Childhood‐onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood‐onset... 
childhood | DBS | WES | dystonia | KMT2B | Analysis | Dystonia
Journal Article
JIMD Reports, ISSN 2192-8304, 2015, Volume 22, pp. 115 - 120
We report about a patient with infantile-onset neurodegenerative disease associated with isolated mitochondrial respiratory chain complex III (cIII)... 
Cerebellar atrophy | Olivopontocerebellar atrophy | Deep gray matter | Percutaneous endoscopic gastrostomy | Dystonic posture
Journal Article
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