Results 101 to 110 of about 308,172 (351)

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj   +1 more source

An ataxia test battery not requiring the use of rails [PDF]

Ataxia on normal humans and those with vestibular defects and ...
Fregly, A. R., Graybiel, A.
core   +1 more source

A novel mutation in SACS gene in a family from southern Italy [PDF]

, 2004
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S, CRISCUOLO C, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, GASPARINI P, MONTICELLI A, ORIO M, PERRETTI, ANNA CARMELA AGNESE, SANTORELLI FM, SANTORO, LUCIO, SCARANO V   +10 more
core  

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT 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. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study

, 2021
L. Legrand, Jonathan W. Weinsaft, Françoise Pousset, Claire Ewenczyk, Perrine Charles, Stéphane Hatem, Anna Heinzmann, Marie Biet, Alexandra Dürr, Alban Redheuil   +9 more
openalex   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Downbeat nystagmus and progressive ataxia in adults: consider Chiari malformation type 1

Arquivos de Neuro-Psiquiatria, 2023
Breno Kazuo Massuyama, Thiago Cardoso Vale, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, José Luiz Pedroso   +4 more
doaj   +1 more source

HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Cisplatin and oxaliplatin cause the secretion of high mobility group box 1 (HMGB1) protein from cancer cells, which is necessary for initiation of immunogenic cell death (ICD). Calreticulin (CRT) translocation from the endoplasmic reticulum to the plasma
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

Emerging antioxidant therapies in Friedreich’s ataxia

Frontiers in Pharmacology
Friedreich’s ataxia (FRDA) is a rare childhood neurologic disorder, affecting 1 in 50,000 Caucasians. The disease is caused by the abnormal expansion of the GAA repeat sequence in intron 1 of the FXN gene, leading to the reduced expression of the ...
Fred Jonathan Edzeamey, Zenouska Ramchunder, Charareh Pourzand, Charareh Pourzand, Sara Anjomani Virmouni   +4 more
doaj   +1 more source