Zobrazeno 1 - 10
of 1 086
pro vyhledávání: '"Paroxysmal dyskinesia"'
Autor:
Wei‐Sheng Lin
Publikováno v:
Advanced Genetics, Vol 4, Iss 2, Pp n/a-n/a (2023)
Abstract The era of next‐generation sequencing has increased the pace of gene discovery in the field of pediatric movement disorders. Following the identification of novel disease‐causing genes, several studies have aimed to link the molecular an
Externí odkaz:
https://doaj.org/article/e01fedadd1fa4e4785de603478875558
Autor:
Sofia Cerda‐Gonzalez, Rebecca A. Packer, Laurent Garosi, Mark Lowrie, Paul J. J. Mandigers, Dennis P. O'Brien, Holger A. Volk
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 35, Iss 3, Pp 1218-1230 (2021)
Abstract Movement disorders are a heterogeneous group of clinical syndromes in humans and animals characterized by involuntary movements without changes in consciousness. Canine movement disorders broadly include tremors, peripheral nerve hyperexcita
Externí odkaz:
https://doaj.org/article/4547f40d52c44f039997bb60d1a4e88d
Autor:
Sherril Green, Natasha Olby
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 35, Iss 2, Pp 1093-1097 (2021)
Abstract A 5‐and‐a‐half‐year old, 9‐kg, spayed, female Welsh Terrier presented with a 12 month history of paroxysmal exertion‐induced dyskinesia (PED) characterized by recurrent episodes of involuntary hyperkinetic movements, abnormal mus
Externí odkaz:
https://doaj.org/article/fb0eedce90f7400a8fa1a79f266ef915
Autor:
Carlos Zúñiga-Ramírez, Mirelle Kramis-Hollands, Rodrigo Mercado-Pimentel, Héctor Alberto González-Usigli, Michel Sáenz-Farret, Alberto Soto-Escageda, Alfonso Fasano
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-5 (2019)
Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing. Case report: A pair of monozygotic twins with dystonia and paroxysmal attacks,
Externí odkaz:
https://doaj.org/article/806da8611d8f4f8f8079c17a237f481d
Autor:
Josua Kegele, Johanna Krüger, Mahmoud Koko, Lara Lange, Ana Victoria Marco Hernandez, Francisco Martinez, Alexander Münchau, Holger Lerche, Stephan Lauxmann
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary mixed hyperkinetic movements. Scientific efforts and technical advances in molecular genetics have led to the discovery of a variety of genes associa
Externí odkaz:
https://doaj.org/article/975ab79079b04131b803192f5e683d1a
Autor:
Federica Rachele Danti, Federica Invernizzi, Isabella Moroni, Barbara Garavaglia, Nardo Nardocci, Giovanna Zorzi
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and characteristically elicited by physical exercise. Interestingly, few shared pathogenetic mechanisms have
Externí odkaz:
https://doaj.org/article/ab32dcdb82414658b62c83c1f0f921f8
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous group of movement disorders characterized by episodic involuntary movements (dystonia, dyskinesia, chorea and/or ataxia). Historically, PxMDs were classified clinicall
Externí odkaz:
https://doaj.org/article/51376402139c43eba1f2a4cb3676b11b
Autor:
Ana Elisa Speck, Aderbal S Aguiar Jr.
Publikováno v:
Motriz: Revista de Educacao Fisica, Vol 27 (2021)
Abstract Aim: Dyskinesia is a hyperkinetic abnormal involuntary movement (AIM), like chorea, dystonia, athetosis, and ballism. AIM can occur in Levodopa-induced dyskinesia (LID) in Parkinson's disease (PD), tardive dyskinesia (TD) schizophrenia, and
Externí odkaz:
https://doaj.org/article/e2183f7f944246e28f8531633a8bedda
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these di
Externí odkaz:
https://doaj.org/article/99a88fa303e547baab0f43da16a66470
Autor:
Jeff Coleman, Ouardane Jouannot, Sathish K. Ramakrishnan, Maria N. Zanetti, Jing Wang, Vincenzo Salpietro, Henry Houlden, James E. Rothman, Shyam S. Krishnakumar
Publikováno v:
Cell Reports, Vol 22, Iss 3, Pp 820-831 (2018)
Mutations in proline-rich transmembrane protein 2 (PRRT2) are associated with a range of paroxysmal neurological disorders. PRRT2 predominantly localizes to the pre-synaptic terminals and is believed to regulate neurotransmitter release. However, the
Externí odkaz:
https://doaj.org/article/84f594c3cac94dbc9ed90bd8f5502351