Zobrazeno 1 - 10
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pro vyhledávání: '"Hyperexplexia"'
Akademický článek
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Publikováno v:
静岡赤十字病院研究報 = Journal of Japanese Red Cross Shizuoka Hospital. 37(1):15-19
Startle病（Hyperekplexia）は驚愕反応の亢進状態を特徴とする稀な疾患であり，聴覚・触覚性の刺激による過剰な驚愕反応は筋硬直や筋痙攣，ミオクローヌスを生じ，転倒や呼吸困難などを
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::65524b66b72c1fa819aeaba702673ca2
http://id.nii.ac.jp/1063/00013083/
http://id.nii.ac.jp/1063/00013083/
Autor:
Anthony H. Dickenson
Publikováno v:
Brain : a journal of neurology. 141(1)
See Dickenson (doi:10.1093/brain/awx334) for a scientific commentary on this article.Inhibitory interneurons in the spinal cord use glycine and GABA for fast inhibitory neurotransmission. While there is abundant research on these inhibitory pain path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::934df0602bc0f9278e32a8b1b1057049
https://pubmed.ncbi.nlm.nih.gov/29149236
https://pubmed.ncbi.nlm.nih.gov/29149236
Publikováno v:
Movement disorders, 18(12), 1538-1541. John Wiley and Sons Inc.
Movement Disorders, 18(12), 1538-1541. Wiley
Movement Disorders, 18(12), 1538-1541. Wiley
Excessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the a, su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f359bf8aa2ef0274fcd6d5d1f26164fb
https://doi.org/10.1002/mds.10613
https://doi.org/10.1002/mds.10613
Publikováno v:
Journal of the Neurological Sciences, 378, 175-176. Elsevier Science
Journal of the Neurological Sciences, 378, 175-176
Journal of the Neurological Sciences, 378, pp. 175-176
Journal of the Neurological Sciences, 378, 175-176
Journal of the Neurological Sciences, 378, pp. 175-176
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9984a1b3665add6e2dbcfc5c23f890
https://doi.org/10.1016/j.jns.2017.05.024
https://doi.org/10.1016/j.jns.2017.05.024
Publikováno v:
Movement Disorders. 15(6):1293-1296
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::b5ed91e1b0afc5e1ebbe2f76f84f376d
https://research.rug.nl/en/publications/8845846b-9c7e-4869-9348-7afd61dbcb99
https://research.rug.nl/en/publications/8845846b-9c7e-4869-9348-7afd61dbcb99
Publikováno v:
Movement Disorders. 15:1293-1296
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c5f40a338db972ce8b32452f0f72941
https://doi.org/10.1002/1531-8257(200011)15:6<1293::aid-mds1047>3.0.co
https://doi.org/10.1002/1531-8257(200011)15:6<1293::aid-mds1047>3.0.co
Publikováno v:
NeoReviews. 8:e44-e46
A 2-month-old male baby is admitted to the hospital for the third time with a history of abnormal movements since the first day after delivery. He returns to the hospital on this occasion due to the appearance of bluish skin associated with the occur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d785a5cc50175f1f0225dd8e56149ea
https://doi.org/10.1542/neo.8-1-e44
https://doi.org/10.1542/neo.8-1-e44
Publikováno v:
Clinical neurology and neurosurgery. 99(3):172-178
Hyperekplexia (MIM: 149400): or startle disease, is an autosomal dominant neurological disorder characterized by an extreme generalized stiffness immediately after birth, normalizing during the first years of life. Other features of this disorder are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::a2bfe1c0e3217930f6dd486b73b47c57
https://hdl.handle.net/11370/cde821be-295a-426c-b9eb-bbe8aba695e9
https://hdl.handle.net/11370/cde821be-295a-426c-b9eb-bbe8aba695e9