Zobrazeno 1 - 10
of 685
pro vyhledávání: '"Dystonic disorder"'
Publikováno v:
BMJ case reports. 14(8)
ATP1A3 gene mutations can result in a spectrum of diseases with diverse neurological manifestations. One such disorder linked to this mutation is rapid-onset dystonia–parkinsonism (RDP), which manifests as dystonia with features of parkinsonism, su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867adbb2cf6dae9089a703b528a3e8af
https://pubmed.ncbi.nlm.nih.gov/34413044
https://pubmed.ncbi.nlm.nih.gov/34413044
Autor:
N.O. Pichkur
Publikováno v:
INTERNATIONAL NEUROLOGICAL JOURNAL. :75-83
Актуальність. Гіперфенілаланінемія (HPA), або підвищення концентрації фенілаланіну (Phe) в крові, є наслідком порушення перетворення феніл
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afd5dba1262077aa65b36f0d466871f7
https://doi.org/10.22141/2224-0713.1.95.2018.127417
https://doi.org/10.22141/2224-0713.1.95.2018.127417
Autor:
Anu Suomalainen, Vidya Velagapudi, Mari Auranen, Mika Juhakoski, Jyrki Kaukonen, Juan C. Landoni, Tommi Torkkeli, Anna Kuukasjärvi
Publikováno v:
European Journal of Human Genetics. 29:1833-1837
The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine mono
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37483ed16efa3ad0d2b4fddceb11acf1
https://doi.org/10.1038/s41431-021-00939-1
https://doi.org/10.1038/s41431-021-00939-1
Publikováno v:
J Neurosci
Journal of Neuroscience, 41(31), 6579-6581. Society for Neuroscience
Journal of Neuroscience, 41(31), 6579-6581. Society for Neuroscience
Musical training is associated with increased structural and functional connectivity between auditory sensory areas and higher-order brain networks involved in speech and motor processing. Whether such changed connectivity patterns facilitate the cor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec3f1d7c4287ebfb3afc790dfcfdec87
https://doi.org/10.1523/jneurosci.0756-21.2021
https://doi.org/10.1523/jneurosci.0756-21.2021
Publikováno v:
Neurol Clin Pract
ObjectivePediatric dystonic storm is an underrecognized entity. We aimed to evaluate the profiles of children presenting with dystonic storm in a referral hospital. Management schema and treatment responsiveness of this uncommonly reported entity wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8108a81bad7713276f12e0addf99b93
https://doi.org/10.1212/cpj.0000000000000989
https://doi.org/10.1212/cpj.0000000000000989
Autor:
Asha Sude, Donald R. Nixdorf
Publikováno v:
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 130:169-174
Objective The aim of this study was to describe the prevalence and clinical characteristics of patients with oromandibular dystonia (OMD) presenting to an academic orofacial pain clinic. OMD diagnosis was based on clinical signs and symptoms, present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c82d2f92ddf6572bceec0de1396b7cd7
https://doi.org/10.1016/j.oooo.2020.05.002
https://doi.org/10.1016/j.oooo.2020.05.002
Publikováno v:
J Clin Sleep Med
Abnormalities of the upper airway anatomy are an underrecognized cause of obstructive sleep apnea. We present a unique case of a 51-year-old man with episodic sleep-maintenance insomnia and oromandibular dystonia requiring botulinum toxin injections
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2779d090d059984e83ad289270a340
https://doi.org/10.5664/jcsm.8454
https://doi.org/10.5664/jcsm.8454
Autor:
Manju A. Kurian, Dora Steel
Publikováno v:
Current Opinion in Neurology. 33:500-507
Purpose of review The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering arra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a7a50d1d84958c6a9a4e808ba751eb
https://doi.org/10.1097/wco.0000000000000831
https://doi.org/10.1097/wco.0000000000000831
Publikováno v:
J Pediatr Pharmacol Ther
This case report describes an adolescent female with a complex psychiatric history and Fragile X syndrome who developed an antipsychotic-withdrawal emergent oculogyric crisis (OGC) in approximately 12 hours following reduction in olanzapine dose from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d663918743f9971ec79faf64405826
https://doi.org/10.5863/1551-6776-25.5.455
https://doi.org/10.5863/1551-6776-25.5.455
Publikováno v:
Medical Problems of Performing Artists. 35:19-27
AIMS: There is a lack of an objective measurement tool for evaluating the quality of bowing performance in string players. The present study aimed to assess kinematic features of bow strokes performed by violinists and violists affected by bow arm dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b17ae75254bd55f595ede4a9e9b27e4
https://doi.org/10.21091/mppa.2020.1003
https://doi.org/10.21091/mppa.2020.1003