Results 101 to 110 of about 9,050 (259)

Ataxia telangiectasia [PDF]

open access: yesJournal of Neurology, Neurosurgery & Psychiatry, 1964
H L, UTIAN, M, PLIT
openaire   +2 more sources

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi   +16 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment

open access: yesBMEMat, EarlyView.
Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan   +8 more
wiley   +1 more source

A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education

open access: yesClinical Anatomy, EarlyView.
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley   +4 more
wiley   +1 more source

Análisis molecular de las ataxias espinocerebelosas para los genes 1,2,3,6,7,8 y FRDA en la población colombiana

open access: yesActa Biológica Colombiana, 2001
Las ataxias son un grupo de enfermedades neurodegenerativas que afectan el cerebelo, el tallo y los tractos espinocerebelosos. 10 genes para las ataxias espinocerebelosas (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA13, y DRPLA) han sido ...
M. L. Gómez   +3 more
doaj  

Chiari I Malformation: Review and Update of Current Treatment Options

open access: yesClinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo   +11 more
wiley   +1 more source

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder. They rarely occur in children and most often have a monophasic course.
Elizabeth C. Ballinger   +6 more
wiley   +1 more source

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

open access: yesRevista 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   +4 more
doaj  

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