Results 61 to 70 of about 59,501 (281)

Social determinants of health and health-related quality of life in individuals with isolated dystonia

Dystonia
Background and objectivesDystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the healthy population.
Caroline Nelson, Christopher D. Stephen, Christopher D. Stephen, Ellen B. Penney, Ellen B. Penney, Hang Lee, Hang Lee, Elyse R. Park, Elyse R. Park, Nutan Sharma, Nutan Sharma, Marisela E. Dy-Hollins, Marisela E. Dy-Hollins   +12 more
doaj   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

High‐Density Magnetomyography With Optical Magnetometers Reveals Spatiotemporal Patterns of Evoked Muscle Activity

Advanced Materials Technologies, EarlyView.
Optically pumped magnetometers are employed to contactlessly map the spatiotemporal dynamics of the magnetic field linked to electrical activity of a skeletal muscle in vivo. It is demonstrated that localization of the clinically relevant innervation zone is feasible using this non‐invasive magnetic measurement modality. ABSTRACT Magnetomyography (MMG)
Simon Nordenström, Victor Lebedev, Stefan Hartwig, Marlen Kruse, Santiago Rodriguez, Lukas Baier, Nima Noury, Thomas Klotz, Ahmet Doğukan Keleş, Justus Marquetand, Markus Siegel, Oliver Röhrle, Thomas Middelmann   +12 more
wiley   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

Advanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters, Lorenzo Signorelli, Christian Herff, Sophia Gimple, Renzo Riemens, Gunter Kenis, Kim Rijkers, Hamed Shabani, Jyh‐Jang Sun, Yasin Temel, Hans Clusmann, Danijela Gregurec, Sarah‐Anna Hescham   +12 more
wiley   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

REEP4 variant analysis in blepharospasm and other neurological disorders

Dystonia
Introduction: In preceding work, a deleterious REEP4 variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree.
Samira Saeirad, Mark S. LeDoux, Mark S. LeDoux   +2 more
doaj   +1 more source

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +1 more source

Assessing vocal changes through spectral analyses of vocalizations in a cerebellar-specific dystonia mouse model

Dystonia
Vocal impairments are a debilitating but understudied feature of several dystonias, including generalized and early-onset genetic forms. Despite growing recognition that cerebellar dysfunction contributes to dystonic pathophysiology, the circuit ...
Austin L. Fitzgerald, Jonathan A. Coello, Alyssa M. Lyon, Alyssa M. Lyon, Breanne L. Dao, Meike E. van der Heijden, Meike E. van der Heijden, Meike E. van der Heijden, Meike E. van der Heijden, Meike E. van der Heijden   +9 more
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

DYSTONIA LENTICULARIS (DYSTONIA MUSCULORUM DEFORMANS)

Archives of Neurology And Psychiatry, 1920
The condition generally recognized as dystonia musculorum deformans, a name given it by Oppenheim, is of special interest at this time in view of the recent significant researches concerning the functions of the basal ganglia, especially of the nucleus lenticularis.
openaire   +1 more source