Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models.

Autor: Li, Zongze^1,2 (AUTHOR) liz55@cardiff.ac.uk, Abram, Laura^1,2 (AUTHOR) abraml@cardiff.ac.uk, Peall, Kathryn J.^1,2 (AUTHOR) peallkj@cardiff.ac.uk

Publikováno v: Cells (2073-4409). Sep2024, Vol. 13 Issue 18, p1520. 20p.

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Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex

Autor: Clément Tarrano, Cécile Galléa, Cécile Delorme, Eavan M. McGovern, Cyril Atkinson-Clement, Vanessa Brochard, Stéphane Thobois, Christine Tranchant, David Grabli, Bertrand Degos, Jean Christophe Corvol, Jean-Michel Pedespan, Pierre Krystkowiak, Jean-Luc Houeto, Adrian Degardin, Luc Defebvre, Benoit Beranger, Davide Martino, Emmanuelle Apartis, Marie Vidailhet, Emmanuel Roze, Yulia Worbe

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Abstract Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous ne

Externí odkaz: https://doaj.org/article/c1866a1963714179a033c4666633d649

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

Autor: De Francesch V; Child and Adolescent Neuropsychiatry Unit, AULSS1 Dolomiti, San Martino Hospital, Belluno, Italy.; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain., Cazurro-Gutiérrez A; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain., Timmers ER; Expertise Centre Movement Disorders Groningen, Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Español-Martín G; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Rare Diseases, Madrid, Spain., Ferrero-Turrión J; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain., Gómez-Andrés D; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain., Marcé-Grau A; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain., Dougherty-de Miguel L; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain., González V; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain., Moreno-Galdó A; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Mental Health, Madrid, Spain., Tijssen MAJ; Expertise Centre Movement Disorders Groningen, Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; European Reference Network for Rare Neurological Diseases, Tübingen, Germany., Pérez-Dueñas B; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Rare Diseases, Madrid, Spain.; European Reference Network for Rare Neurological Diseases, Tübingen, Germany.

Publikováno v: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Dec 16. Date of Electronic Publication: 2024 Dec 16.

Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome.

Autor: Belli, Elisabetta¹ (AUTHOR), Del Prete, Eleonora¹ (AUTHOR), Unti, Elisa¹ (AUTHOR), Mazzucchi, Sonia¹ (AUTHOR), Palermo, Giovanni¹ (AUTHOR), Ceravolo, Roberto¹ (AUTHOR) roberto.ceravolo@unipi.it

Publikováno v: Neurological Sciences. Aug2023, Vol. 44 Issue 8, p2943-2945. 3p.