Results 41 to 50 of about 202,258 (245)

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

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

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. [PDF]

, 2015
Spinocerebellar Ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia. It is one of three allelic disorders associated to CACNA1A gene, coding for the Alpha1
Veneziano, L, Frontali, M, Mantuano, E, Liana eVeneziano, Elide Mantuano, Liana Veneziano, Giunti, P, Elide eMantuano, Marina Frontali, Paola eGiunti, Marina eFrontali, Paola Giunti   +11 more
core   +1 more source

Bone and Soft Tissue Neoplasms in Infants Versus Older Children: A Report From the Cancer in Young People in Canada Program

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Rebecca J. Deyell, Lesleigh Abbott, Tony H. Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +21 more
wiley   +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

Smaller is better: nanobodies meet NMR

FEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology
Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication.
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
doaj   +1 more source

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Perlman, SL, Cortopassi, Gino A, Brown, B, Perlman, Susan L, McMackin, Marissa Z, Pook, MA, Wulff, H, Pook, Mark A, Jasoliya, M, Scott, Brian D, Jasoliya, Mittal, Scott, BD, Wulff, Heike, Sahdeo, S, McMackin, MZ, Sahdeo, Sunil, Cortopassi, GA, Brown, Brandon   +17 more
core   +1 more source

Access to specialist ataxia centres in Europe: cross-sectional surveys in the United Kingdom, Italy, and Germany

Frontiers in Health Services
BackgroundProgressive ataxias are a diverse and rare group of neurodegenerative conditions characterised by unsteadiness, incoordination and slurred speech.
Suzanne Booth, Suzanne Booth, Julie Vallortigara, Catherine Hurt, Julie Greenfield, Barry Hunt, Paola Giunti   +6 more
doaj   +1 more source