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Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
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Published in: | Annals of the Indian Academy of Neurology 2022-03, Vol.25 (2), p.292-294 |
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container_end_page | 294 |
container_issue | 2 |
container_start_page | 292 |
container_title | Annals of the Indian Academy of Neurology |
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creator | Ozturk, Gulten Ayaz, Akif Topcu, Yasemin Akyuz, Gülcan Unver, Olcay Akbeyaz, Ismail Ekinci, Gazanfer Turkdogan, Dilsad |
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doi_str_mv | 10.4103/aian.aian_314_21 |
format | article |
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issn | 0972-2327 1998-3549 |
language | eng |
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source | Medknow Open Access Journals; Publicly Available Content Database; PubMed Central |
subjects | Ataxia Case studies Children Degeneration Diagnosis Gene mutations Genetic aspects Genetic variability Health aspects Letters to the Editor Nervous system Neurodegeneration Pediatric research Seizures Seizures (Medicine) Stress (Physiology) Torticollis |
title | Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients |
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