Results 51 to 60 of about 227,565 (303)

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

PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

Русский журнал детской неврологии, 2017
Phelan–McDermid syndrome (PMS) is a microdeletion syndrome associated with the loss of terminal segments in chromosome 22, sometimes with development of the ring chromosome 22. Clinical manifestations of PMS include epilepsy and mental disorders (autism,
M. Yu. Bobylova, M. A. Nikitina, K. Yu. Mukhin, A. V. Kulikov   +3 more
doaj   +1 more source

Automatic Musculoskeletal and Neurological Disorder Diagnosis With Relative Joint Displacement From Human Gait [PDF]

IEEE Transactions on Neural Systems and Rehabilitation Engineering, 2018
Les troubles musculo-squelettiques et neurologiques sont des compagnons dévastateurs du vieillissement, entraînant une réduction de la qualité de vie et une augmentation de la mortalité. L'analyse de la démarche est une méthode populaire pour diagnostiquer ces troubles. Cependant, l'analyse manuelle des données de mouvement est une tâche laborieuse, et
Worasak Rueangsirarak, Jingtian Zhang, Nauman Aslam, Edmond S. L. Ho, Hubert P. H. Shum   +4 more
openaire   +3 more sources

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Maintaining gait stability during dual walking task: effects of age and neurological disorders [PDF]

European Journal of Physical and Rehabilitation Medicine, 2017
Dual task paradigm is a common mechanism of daily life, and it is often used for investigating the effect on cognitive processing of motor behavior.In the present study we investigate the dual task interference during walking on upright gait stability.Cross-sectional study.Inpatient neurorehabilitation unit and children neurorehabilitation unit.Eighty ...
Tramontano M., Morone G., Curcio A., Temperoni G., Medici A., Morelli D., Caltagirone C., Paolucci S., Iosa M.   +8 more
openaire   +4 more sources

Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz, Carl D. Langefeld, Mary E. Comeau, Miranda C. Marion, Tyler P. Behymer, Lee A. Gilkerson, Padmini Sekar, Weihong Yuan, Vivek Khandwala, Brady J. Williamson, Thomas Maloney, Achala Vagal, Pierce Boyne, Kari Dunning, Matthew L. Flaherty, Steven J. Kittner, Prachi Mehndiratta, Gunjan Y. Parikh, Michael L. James, David Roh, Fernando D. Testai, Farhaan S. Vahidy, James Thornton, Ranjit Bagga, Daniel Woo, Stacie L. Demel   +25 more
wiley   +1 more source

Further focus on the study of freezing of gait

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.02 ...
Xian-wen CHEN
doaj  

Establishment of a gait-based clinical diagnostic model for Parkinson’s disease [PDF]

精准医学杂志
Objective To establish a gait-based clinical diagnostic model for Parkinson’s disease (PD), and to investigate its clinical diagnostic value. Methods A total of 112 patients with PD who attended Department of Neurology in our hospital from December 2022 ...
MA Wenqi, XUE Li, LI Han, XIE Anmu
doaj   +1 more source

Hospital Readmission After Traumatic Brain Injury Hospitalization in Community‐Dwelling Older Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the risk of hospital readmission after an index hospitalization for TBI in older adults. Methods Using data from the Atherosclerosis Risk in Communities (ARIC) study, we used propensity score matching of individuals with an index TBI‐related hospitalization to individuals with (1) non‐TBI hospitalizations (primary analysis)
Rachel Thomas, Connor A. Law, Joan A. Casey, Thomas Mosley, Rebecca F. Gottesman, Ramon Diaz‐Arrastia, Holly Elser, Andrea L. C. Schneider   +7 more
wiley   +1 more source

Differential resting-state functional connectivity patterns in functional movement disorders: Evidence for gait-disorder-specific aberrations

NeuroImage: Clinical
Background: The clinical presentation of Functional Movement Disorders (FMD) is highly variable, encompassing gait disturbances and a wide range of hyper- and hypokinetic movement abnormalities.
Carl Alexander Gless, Annemarie Reincke, Anne Weissbach, Christina Bolte, Johanna Geritz, Stephan Wolff, Christof Degen-Plöger, Oliver Granert, Christian Erdmann, Svea Seehafer, Philipp J. Koch, Alexander Münchau, Norbert Brüggemann, Kirsten E. Zeuner, Jos S. Becktepe   +14 more
doaj   +1 more source