Results 81 to 90 of about 202,258 (245)

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,
Pedersen, TL, Cortopassi, G, Newman, John W, Shen, Yan, Pedersen, Theresa L, Pook, Mark, Hayashi, G, Newman, JW, Pook, M, Hayashi, Genki, Cortopassi, Gino, Shen, Y   +11 more
core   +1 more source

Management of ataxias: guidelines on best clinical practice [PDF]

, 2009
This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with ataxia. Ataxia means ‘lack of coordination’ and it is a symptom of many conditions.
Fletcher, N., Hadjivassiliou, M., Robertson, Neil, Morrison, P., Pantazis, A., Farrell, A., Bates, C., Hourihan, S., Hunt, B., Baxter, P., Rodriguez, I., Schapira, T., Surtees, R., Talbot, K., Giunti, P., Cassidy, E., Lowit, A., Evans, M., De Silva, R., Greenfield, J., Harrison, E.   +20 more
core   +4 more sources

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]

, 2015
We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Voyce, DC, Marsden, JF, Day, BL, Bunn, LM, Giunti, P   +4 more
core  

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) [PDF]

, 2019
Introduction: Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Schöls, L, Schoels, Ludger, Boesch, Sylvia A., Klockgether, T, Molenberghs, Geert, Hilgers, R-D, Schöls, Ludger, Rodríguez de Rivera Garrido, FJ, Didszun, C, Durr, Alexandra, Festenstein, Richard, Schulz, Jörg B, Dohmen, Marc, Schulz, Joerg B., Boesch, S, Isfort, Susanne, Korinthenberg, R, Schulz, Jörg B., Garrido, Francisco Javier Rodriguez de Rivera, Kistermann, Jennifer, Durr, A, Reetz, K, Dohmen, M, Korinthenberg, Rudolf, Pandolfo, Massimo, Mariotti, Caterina, Giunti, Paola, Fedosov, K, Hilgers, Ralf-Dieter, Klockgether, Thomas, Rodríguez de Rivera Garrido, Francisco Javier, Pandolfo, M, Didszun, Claire, Giunti, P, Lavin, P, Kistermann, J, Mariotti, C, Boesch, Sylvia, Fedosov, Kathrin, Isfort, S, Schulz, JB, Reetz, Kathrin, Festenstein, R, EFACTS or NICOFA study group, Lavin, Philip, Klopstock, Thomas, Libri, Vincenzo, Klopstock, T, Molenberghs, G, Libri, V   +49 more
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Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu, Sophia F. Damman, Samhitha M. Rai, Hesham Abboud   +3 more
wiley   +1 more source

Trunk-lower limb coordination pattern during gait in patients with ataxia.

, 2017
OBJECTIVE: Although deficit of coordination between the upper and lower body segments might play an important role in impairing gait and stability in ataxic patients, this deficit has not been investigated in subjects with ataxia so far. To evaluate the
Padua, Luca, Rossini, Paolo Maria, Caliandro, Pietro, Iacovelli, Chiara   +3 more
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