Results 181 to 190 of about 428,561 (236)

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

Molecular basis of SIFI activity in the integrated stress response. [PDF]

Nature
Yang Z, Haakonsen DL, Heider M, Witus SR, Zelter A, Beschauner T, MacCoss MJ, Rapé M.   +7 more
europepmc   +1 more source

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

Amino acid restriction sensitizes lung cancer cells to ferroptosis via GCN2-dependent activation of the integrated stress response. [PDF]

Redox Biol
Garellick VA, Gul N, Horrieh P, Mustafa D, Patel AAH, Dankis M, Alvarez SW, Berndtson J, Mahdavi S, Schwarz M, Persson A, Zahirovic F, Wiel C, Sayin VI, Lindahl P.   +14 more
europepmc   +1 more source

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Integrative bulk and single-cell transcriptome analyses reveal integrated stress response-related biomarkers in periodontitis with experimental validation. [PDF]

Front Immunol
Du L, Pan J, Xu N, Yan F, Tian W, Li Q.
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Loss of O-GlcNAcylation in cardiac myocytes triggers the integrated stress response, contributing to heart failure. [PDF]

J Biol Chem
Papanicolaou KN, Zhang W, Dunphy AJ, Zhong JC, Cho CY, Turner DR, Ashok D, Foster DB, O'Rourke B, Zachara NE.   +9 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Dual Nature of Mitochondrial Integrated Stress Response: Molecular Switches from Protection to Pathology. [PDF]

Genes (Basel)
Jeong J, Kim J, Kim MS.
europepmc   +1 more source