Results 61 to 70 of about 21,867 (268)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Effects of tonsillectomy under general anaesthesia on articulatory characteristics and blood levels of PCT, GMP-140, and T lymphocyte subsets in children with obstructive sleep apnea-hypopnea syndrome [PDF]

精准医学杂志
Objective To explore the effects of tonsillectomy under general anesthesia on articulatory characteristics and blood levels of procalcitonin (PCT), platelet membrane protein-140 (GMP-140), and T lymphocyte subsets in children with obstructive sleep apnea-
WANG Zihan, PAN Hongshuai
doaj   +1 more source

A Speech Production Model for Radar: Connecting Speech Acoustics with Radar-Measured Vibrations

Millimeter Wave (mmWave) radar has emerged as a promising modality for speech sensing, offering advantages over traditional microphones. Prior works have demonstrated that radar captures motion signals related to vocal vibrations, but there is a gap in the understanding of the analytical connection between radar-measured vibrations and acoustic speech ...
Lenz, Isabella, Rong, Yu, Bliss, Daniel, Liss, Julie, Berisha, Visar   +4 more
openaire   +2 more sources

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

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +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

Aquisição da coda vibrante: o estabelecimento de pistas fonético-acústicas Vibrant coda acquisition: the establishment of acoustic‑phonetic cues

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
OBJETIVO: Caracterizar acusticamente as produções da coda vibrante julgadas auditivamente como alvo; identificar a existência ou não de contrastes encobertos, nas produções julgadas auditivamente como tendo omissão da coda vibrante; e, quando existentes,
Larissa Cristina Berti, Larriane Karen de Campos   +1 more
doaj   +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

Comparison of plosive sounds in monolingual and bilingual children, using the voice onset time acoustic parameter: cases report

Revista CEFAC
The purpose was to compare differences in production of plosive phonemes through the voice onset time (VOT) measurement in the speech of monolingual children, speakers of Brazilian Portuguese and bilingual children, speakers of both Brazilian Portuguese ...
Maria Teresa R. Lofredo-Bonatto, Marta A. Andrada e Silva   +1 more
doaj   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source