Results 121 to 130 of about 12,825 (214)

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Ocular Motor Abnormalities in Autoimmune Ataxias

, 2018
Immune-mediated ataxias are usually of rapid onset with a relentless progressive course and early diagnosis is critical to halt the progression by establishing prompt immunotherapy.
Xiaojun Zhang; Ali Saber Tehrani; Diana Londono; Jorge Kattah
core  

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Relevance of components of the hypothalamic–pituitary–gonadal axis in the pathophysiology of nervous system proteinopathies

Revista Habanera de Ciencias Médicas, 2019
Introduction: Several proteinopathies of the nervous system are associated with disturbances in components of the hypothalamic–pituitary–gonadal axis.Objective: To assess the relevance of components of the hypothalamic–pituitary–gonadal axis to the ...
Kenia Hechevarría Bárzaga, Raúl Aguilera Rodríguez, Dennis Almaguer Gotay, Amarilis Álvarez Sosa, Luis Enrique Almaguer Mederos   +4 more
doaj  

Neurodegenerative diseases in Latin American countries: a view from the III International Conference on Hereditary Ataxias [PDF]

, 2009
Parra, Mario, Parra Rodriguez, Mario
core  

Adult onset sporadic ataxias: a diagnostic challenge

, 2017
Pacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas ...
Pedroso, Jose Luiz, Albuquerque, Marcus Vinicius Cristino de, Braga-Neto, Pedro, Barsottini, Orlando Graziani Povoas   +3 more
core  

Characterizing Autism Phenotype Onset in the Electronic Health Records to Enable Age‐Specific Screening

Autism Research, EarlyView.
ABSTRACT Autism exhibits substantial phenotypic heterogeneity, yet age‐dependent variation in phenotypic profiles and onset timing remains poorly understood. We aimed to characterize stage‐specific phenotypes and temporal onset patterns of autism using longitudinal electronic health records (EHRs).
Fangyi Chen, Jerard Kneifati‐Hayek, Charlotte Zelin, Da Wu, Quan M. Nguyen, Casey N. Ta, Cong Liu, Kai Wang, Wendy K. Chung, Chunhua Weng   +9 more
wiley   +1 more source