Results 81 to 90 of about 123,648 (399)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Deep brain stimulation for pediatric dystonia: a meta‐analysis with individual participant data

Developmental Medicine & Child Neurology, 2018
We performed a meta‐analysis with individual participant data of deep brain stimulation (DBS) for dystonia in children and young people.
Lior M. Elkaim, N. Alotaibi, A. Sigal, Haifa M Alotaibi, N. Lipsman, Suneil K. Kalia, D. Fehlings, A. Lozano, G. Ibrahim   +8 more
semanticscholar   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

The Gut Microbiota Regulates Motor Deficits via Butyrate in a Gnal+/− Mouse Model of DYT25 Dystonia

Advanced Science, EarlyView.
The present study provides compelling evidence for a modulatory role of the gut microbiota in the pathology of DYT25 dystonia, and butyrate supplementation alleviates the motor deficits of dystonia in Gnal+/− mice. Abstract Dystonia is the third most common movement disorder, following essential tremor and Parkinson's disease. The underlying mechanisms
Jingya Guo, Seong‐Gook Kang, Kunlun Huang, Tao Tong   +3 more
wiley   +1 more source

Limb amputations in fixed dystonia: a form of body integrity identity disorder? [PDF]

, 2011
Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management.
Alonso-Canovas, A, Bhatia, K, Bloem, BR, Edwards, MJ, Schrag, A, Thompson, PD   +5 more
core   +1 more source

Behavior‐ and Cell Type‐Specific Cortico‐Striatal Decoupling in a Parkinson's Disease‐Like Mouse Model

Advanced Science, EarlyView.
Utilizing dual‐site fiber photometry, this study examines cortico‐striatal coupling with cell type resolution, identifying behavior‐ and cell type‐specific cortico striatal decoupling and its dopamine‐dependent mechanism in a Parkinson's disease mouse model.
Xu‐Ran Yao, Yang Liu, Wei‐Tong Zheng, Mao‐Qing Huang, Kai‐Wen He   +4 more
wiley   +1 more source

A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import. [PDF]

, 2015
Torsin proteins are AAA+ ATPases that localize to the endoplasmic reticular/nuclear envelope (ER/NE) lumen. A mutation that markedly impairs torsinA function causes the CNS disorder DYT1 dystonia. Abnormalities of NE membranes have been linked to torsinA
Dauer, William T, Hall, David H, Nguyen, Ken CQ, Rose, Lesilee S, VanGompel, Michael JW   +4 more
core   +2 more sources

Functional and structural neural bases of task specificity in isolated focal dystonia

Movement Disorders, 2019
Task‐specific focal dystonias selectively affect movements during the production of highly learned and complex motor behaviors. Manifestation of some task‐specific focal dystonias, such as musician's dystonia, has been associated with excessive practice ...
Serena Bianchi, Stefan Fuertinger, Hailey P. Huddleston, S. Frucht, K. Simonyan   +4 more
semanticscholar   +1 more source

A Wireless, Battery‐Free Artificial Throat Patch with Deep Learning for Emotional Speech Recognition

Advanced Science, EarlyView.
In this work, Xu and co‐workers develop a wireless, battery‐free artificial throat patch system (ATPS) consisting of a carbon nanotube‐based thin‐film strain sensor and a miniaturized flexible printed circuit board, to enable real‐time sensing of throat signals.
Bingxin Xu, Guanming Lin, Xiaohui Hong, Chuting Liu, Xinyi Qu, Kangjian Jiao, Lei Zhang, Bingzhe Xu, Jun Yan, Yancong Qiao, Xudong Lin   +10 more
wiley   +1 more source