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Clinical Neurophysiology, ISSN 1388-2457, 10/2019, Volume 130, Issue 10, p. e193
Journal Article
Brain and nerve = Shinkei kenkyu no shinpo, ISSN 1881-6096, 04/2019, Volume 71, Issue 4, p. 380
Ocular telangiectasias are pathognomonic of ataxia telangiectasia (AT), and they usually appear after 6 years of age. Skin and visceral telangiectasias may... 
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2018, Volume 83, Issue 4, pp. 794 - 806
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 180 - 187
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 782 - 788
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 10/2019, Volume 130, Issue 10, p. e222
Journal Article
Pediatric Neurology, ISSN 0887-8994, 12/2017, Volume 77, pp. 91 - 91
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 05/2018, Volume 9, Issue MAY, p. 375
Pallidal deep brain stimulation (DBS) improves the symptoms of dystonia. The improvement processes of dystonic movements (phasic symptoms) and tonic symptoms... 
Deep brain stimulation | Local field potentials | Motor cortex | Coherence | Globus pallidus | Resting-state | Dystonia | Usage | Care and treatment | Basal ganglia | Analysis | Oscillation | Research | Brain stimulation | motor cortex | coherence | local field potentials | globus pallidus | dystonia | resting-state
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2014, Volume 37, Issue 3, pp. 362 - 365
Abstract Background Ataxia telangiectasia (A-T) is a common inherited cause of early childhood-onset ataxia, distinguished by progressive cerebellum... 
Neurology | Myoclonic jerk | Ataxia telangiectasia | AFP | ATM gene | Extrapyramidal sign | GENE | KINASE | DYSTONIA | CLINICAL NEUROLOGY | Ataxia Telangiectasia - diagnosis | Female | Ataxia Telangiectasia - complications | Child | Humans | Myoclonus - etiology | Ataxia | Diagnosis | Medical colleges | Telangiectasis | Diagnostic imaging | Index Medicus
Journal Article
Brain and Development, ISSN 0387-7604, 08/2018, Volume 40, Issue 7, pp. 566 - 569
Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the gene. Patients exhibit severe intellectual disability with... 
RPS6KA3 | Coffin-Lowry syndrome | MRI | Periventricular cystic lesions | RSK2 | RPS6KA3: RSK2 | BRAIN | CLINICAL NEUROLOGY | Medical colleges | Genes | Genetic aspects
Journal Article