Results 31 to 40 of about 307,217 (252)

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

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
core   +1 more source

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

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

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

ATM in focus:a damage sensor and cancer target [PDF]

, 2012
The ability of a cell to conserve and maintain its native DNA sequence is fundamental for the survival and normal functioning of the whole organism and protection from cancer development.
Khalil, Hilal S., Tummala, Hemanth, Zhelev, Nikolai   +2 more
core   +4 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

HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich’s Ataxia

Frontiers in Genetics, 2020
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disorder caused by a homozygous GAA repeat expansion mutation in intron 1 of the frataxin gene (FXN), which instigates reduced transcription.
Mursal Sherzai, Adamo Valle, Adamo Valle, Nicholas Perry, Ester Kalef-Ezra, Sahar Al-Mahdawi, Mark Pook, Sara Anjomani Virmouni   +7 more
doaj   +1 more source

Mitochondrial Ataxias [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2009
Mitochondrial disorders (MIDs) are an increasingly recognized condition. The second most frequently affected organ in MIDs is the central nervous system. One of the most prevalent clinical CNS manifestations of MIDs is ataxia. Ataxia may be even the dominant manifestation of a MID.
openaire   +2 more sources