Results 31 to 40 of about 308,172 (351)

Emerging therapies and recent advances for Tourette syndrome

Heliyon, 2023
Tourette syndrome is the most prevalent hyperkinetic movement disorder in children and can be highly disabling. While the pathomechanism of Tourette syndrome remains largely obscure, recent studies have greatly improved our knowledge about this disease ...
Chih-Yi Chou, Julian Agin-Liebes, Sheng-Han Kuo   +2 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

The Cerebellar Predictions for Social Interactions: Theory of Mind Abilities in Patients With Degenerative Cerebellar Atrophy

Frontiers in Cellular Neuroscience, 2019
Recent studies have focused on the role of the cerebellum in the social domain, including in Theory of Mind (ToM). ToM, or the “mentalizing” process, is the ability to attribute mental states, such as emotion, intentions and beliefs, to others to explain
Silvia Clausi, Silvia Clausi, Giusy Olivito, Giusy Olivito, Giusy Olivito, Michela Lupo, Libera Siciliano, Marco Bozzali, Maria Leggio, Maria Leggio   +9 more
doaj   +1 more source

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood

Frontiers in Neuroscience, 2022
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Qingqing Wang, Qingqing Wang, Laurent Laboureur, Laurent Laboureur, Liwei Weng, Liwei Weng, Nicolas M. Eskenazi, Nicolas M. Eskenazi, Lauren A. Hauser, Lauren A. Hauser, Lauren A. Hauser, Clementina Mesaros, Clementina Mesaros, David R. Lynch, David R. Lynch, David R. Lynch, Ian A. Blair, Ian A. Blair   +17 more
doaj   +1 more source

E-survey of current international physiotherapy practice for children with ataxia following surgical resection of posterior fossa tumour. [PDF]

, 2018
ObjectiveTo determine current international practice regarding physiotherapy input for children with ataxia following surgery for posterior fossa tumour.
Bunn, Lisa, CARTER, BERNIE, Cassidy, Elizabeth, HARTLEY, HELEN, Kumar, Ram, Lane, Steven, Pizer, Barry   +6 more
core   +7 more sources

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Al-Mahdawi, Al-Mahdawi, Block, Campuzano, Campuzano, Capdevila, Capdevila, Castaldo, Chantrel-Groussard, Chen, Cossee, Dewitt, Durr, Durr, Feng, Genki Hayashi, Gino Cortopassi, Harding, John W. Newman, Kang, Koeppen, Li, Liang, Lin, Lu, Mark Pook, Masi, Michael, Miranda, Node, O'Flaherty, Paupe, Piemonte, Piro, Praticò, Qin, Ristow, Rojo, Samuelsson, Sanchez-Mejia, Schulz, Shan, Shi, Shin, Small, Smith, Strokin, Tan, Teismann, Theresa L. Pedersen, Tian, Wardlaw, Wong, Wong, Xi, Yan, Yan Shen, Zhang   +57 more
core   +2 more sources

Comparison of specialist ataxia centres with non-specialist services in terms of treatment, care, health services resource utilisation and costs in the UK using patient-reported data

BMJ Open
Objectives This study aims to assess the patient-reported benefits and the costs of coordinated care and multidisciplinary care at specialist ataxia centres (SACs) in the UK compared with care delivered in standard neurological clinics.Design A patient ...
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Paola Giunti, Deborah Hoffman, Suzanne Booth   +6 more
doaj   +1 more source

Sedative and antinociceptive effects of different combinations of detomidine and methadone in standing horses [PDF]

, 2017
Objective To evaluate intravenous (IV) detomidine with methadone in horses to identify a combination which provides sedation and antinociception without adverse effects. Study design Randomized, placebo-controlled, blinded, crossover.
Crosignani, N, Gozalo-Marcilla, M, Luna, S P L, Pelligand, L, Possebon, F S, Puoli Filho, J N P, Taylor, P M   +6 more
core   +2 more sources

The role of the cerebellum in sequencing and predicting social and non-social events in patients with bipolar disorder

Frontiers in Cellular Neuroscience, 2023
IntroductionAdvances in the operational mode of the cerebellum indicate a role in sequencing and predicting non-social and social events, crucial for individuals to optimize high-order functions, such as Theory of Mind (ToM).
Libera Siciliano, Libera Siciliano, Giusy Olivito, Giusy Olivito, Michela Lupo, Nicole Urbini, Nicole Urbini, Andrea Gragnani, Andrea Gragnani, Marco Saettoni, Marco Saettoni, Roberto Delle Chiaie, Maria Leggio, Maria Leggio   +13 more
doaj   +1 more source

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting [PDF]

, 2019
The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed ...
Blair, Ian A., Farmer, Jennifer, Hersch, Steven, Larkindale, Jane, Lynch, David R., Napierala, Jill, Napierala, Marek, Payne, R. Mark, Subramony, Sub H.   +8 more
core   +1 more source