المؤلفون: Mouraux, Charlotte, Aktan, David, Depierreux, Frédérique

المساهمون: GIGA Research, CRC Human Imaging, University of Liège, B-4000 Liège, Belgium

المصدر: Neurodevelopmental syndromes & movement disorders - International symposium, Barcelone, Spain [ES], 6-7 février 2025

مصطلحات موضوعية: THAP1 gene, DYT-THAP1, DYT6, Generalized dystonia, Blepharospasm, Cervical Dystonia, Paediatric movement disorders, Human health sciences, Neurology, Laboratory medicine & medical technology, Sciences de la santé humaine, Neurologie, Médecine de laboratoire & technologie médicale

وصف الملف: 1

URL الوصول: https://orbi.uliege.be/handle/2268/327300

المؤلفون: Colette Reinhold, Susanne Knorr, Rhonda L. McFleder, Lisa Harder-Rauschenberger, Tom Gräfenhan, Andreas Schlosser, Michael Sendtner, Jens Volkmann, Chi Wang Ip

المصدر: Neurobiology of Disease, Vol 205, Iss , Pp 106783- (2025)

مصطلحات موضوعية: DYT-THAP1, Nerve injury, Multi-omic, Second-hit hypothesis, Dystonia, Energy metabolism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124003851; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/cf58ca6615ee465e9218f6810f310b94

المؤلفون: Aparna Wagle Shukla, Nicole Herndon, Irene Malaty

المصدر: Dystonia, Vol 2 (2024)

مصطلحات موضوعية: lingual dystonia, oromandibular dystonia, botulinum toxin, THAP1, DYT-THAP1, Neurology. Diseases of the nervous system, RC346-429, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://www.frontierspartnerships.org/articles/10.3389/dyst.2023.11361/full; https://doaj.org/toc/2813-2106

URL الوصول: https://doaj.org/article/7c4df4609c24448fb1a1a0eb83d1f03e

المؤلفون: Mouraux, Charlotte, Aktan, David, Depierreux, Frédérique

المساهمون: GIGA Research, CRC Human Imaging, Rare Movement Disorders Research Group, University of Liège, B-4000 Liège, Belgium

المصدر: Movement Disorders Clinical Practice (2025-01)

مصطلحات موضوعية: THAP1, generalized dystonia, inherited movement disorders, DYT-THAP1, DYT6, blepharospasm, cervical dystonia, Human health sciences, Neurology, Laboratory medicine & medical technology, Sciences de la santé humaine, Neurologie, Médecine de laboratoire & technologie médicale

Relation: urn:issn:2330-1619

URL الوصول: https://orbi.uliege.be/handle/2268/327296

المؤلفون: Narendrakumar H Barad

المصدر: Annals of Movement Disorders, Vol 4, Iss 2, Pp 96-98 (2021)

مصطلحات موضوعية: botulinum injection, dyt-thap1, erky dystonic tremor, thap1, torticollis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.aomd.in/article.asp?issn=2590-3446;year=2021;volume=4;issue=2;spage=96;epage=98;aulast=Barad; https://doaj.org/toc/2590-3446; https://doaj.org/toc/2590-3454

URL الوصول: https://doaj.org/article/53ac1e091cef4cf5b51efa90c4041b5c

المؤلفون: Selma Staege, Anna Kutschenko, Hauke Baumann, Hannes Glaß, Lisa Henkel, Thomas Gschwendtberger, Norman Kalmbach, Martin Klietz, Andreas Hermann, Katja Lohmann, Philip Seibler, Florian Wegner

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: DYT-THAP1, genetic dystonia, induced pluripotent stem cells, striatal medium spiny neurons, GABAA receptor, calcium dynamics, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.650586/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/e430a2e0bfeb42c5b6f33e85eb50634e

المؤلفون: Staege, Selma, Kutschenko, Anna, Seibler, Philip, Wegner, Florian, Baumann, Hauke, Glaß, Hannes, Henkel, Lisa, Gschwendtberger, Thomas, Kalmbach, Norman, Klietz, Martin, Hermann, Andreas, Lohmann, Katja

المصدر: Frontiers in cell and developmental biology 9, 650586 (2021). doi:10.3389/fcell.2021.650586

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, DYT-THAP1, GABAA receptor, calcium dynamics, genetic dystonia, induced pluripotent stem cells, patch-clamp electrophysiology, striatal medium spiny neurons

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:34095114; info:eu-repo/semantics/altIdentifier/issn/2296-634X; https://pub.dzne.de/record/164204; https://pub.dzne.de/search?p=id:%22DZNE-2022-00860%22

الاتاحة: https://pub.dzne.de/record/164204
https://pub.dzne.de/search?p=id:%22DZNE-2022-00860%22

المؤلفون: Annika Danielsson, Miryam Carecchio, Laura Cif, Anne Koy, Jean-Pierre Lin, Göran Solders, Luigi Romito, Katja Lohmann, Barbara Garavaglia, Chiara Reale, Giovanna Zorzi, Nardo Nardocci, Philippe Coubes, Victoria Gonzalez, Agathe Roubertie, Gwenaelle Collod-Beroud, Göran Lind, Kristina Tedroff

المصدر: Journal of Clinical Medicine; Volume 8; Issue 12; Pages: 2163

مصطلحات موضوعية: pallidal deep brain stimulation, DYT-THAP1 dystonia, Burke Fahn Marsden Dystonia Rating Scale, long-term follow-up

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm8122163

الاتاحة: https://doi.org/10.3390/jcm8122163

المؤلفون: Selma Staege (10837686), Anna Kutschenko (10837689), Hauke Baumann (10837692), Hannes Glaß (5013914), Lisa Henkel (10002913), Thomas Gschwendtberger (10837695), Norman Kalmbach (10837698), Martin Klietz (10837701), Andreas Hermann (159135), Katja Lohmann (228326), Philip Seibler (8123162), Florian Wegner (262250)

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), DYT-THAP1, genetic dystonia, induced pluripotent stem cells, striatal medium spiny neurons, GABAA receptor, calcium dynamics, patch-clamp electrophysiology

Relation: https://figshare.com/articles/dataset/Table_1_Reduced_Expression_of_GABAA_Receptor_Alpha2_Subunit_Is_Associated_With_Disinhibition_of_DYT-THAP1_Dystonia_Patient-Derived_Striatal_Medium_Spiny_Neurons_DOC/14634915

الاتاحة: https://doi.org/10.3389/fcell.2021.650586.s001

المؤلفون: Göran Lind, Giovanna Zorzi, Jean-Pierre Lin, Barbara Garavaglia, Luigi Romito, Miryam Carecchio, Chiara Reale, Kristina Tedroff, Katja Lohmann, Göran Solders, Agathe Roubertie, Nardo Nardocci, Philippe Coubes, Anne Koy, Gwenaëlle Collod-Béroud, Laura Cif, Victoria Gonzalez, Annika Danielsson

المصدر: Journal of Clinical Medicine
Volume 8
Issue 12

مصطلحات موضوعية: Burke Fahn Marsden Dystonia Rating Scale, DYT-THAP1 dystonia, long-term follow-up, pallidal deep brain stimulation, medicine.medical_specialty, Deep brain stimulation, medicine.medical_treatment, Article, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Swallowing, Rating scale, otorhinolaryngologic diseases, Medicine, 030304 developmental biology, Dystonia, 0303 health sciences, business.industry, Medical record, General Medicine, medicine.disease, Trunk, Burke fahn marsden, Implant, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57b6cf71943c7a8572bda079efd3ffa5
http://hdl.handle.net/11577/3322659