Results 141 to 150 of about 164,738 (314)

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

Neurobiology of Disease
Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) enzymes, which transfer amino acids to partner tRNAs for protein synthesis, represent the ...
Elena R. Rhymes, Rebecca L. Simkin, Ji Qu, David Villarroel-Campos, Sunaina Surana, Yao Tong, Ryan Shapiro, Robert W. Burgess, Xiang-Lei Yang, Giampietro Schiavo, James N. Sleigh   +10 more
doaj   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

COMPLEX COGNITIVE DISRUPTION IN FRONTAL DEMENTIA RELATED TO MOTOR NEURON DISEASE

, 2001
We describe a patient in whom motor neuron disease and frontal dementia showed concomitant development. This patient underwent a detailed and sequential neurolinguistic assessment, which indicated an alteration in language planning, language ...
PAOLA TORRE, Rita Moretti, MORETTI, Rita, RODOLFO M. ANTONELLO, ROBERTO DE MASI, GIUSEPPE CAZZATO   +5 more
core   +1 more source

Loneliness as neurobehavioral issue in amyotrophic lateral sclerosis

Annals of Clinical and Translational Neurology
Objective In elderly people loneliness represents a risk factor for dementia and may negatively impact on mental and physical health. The specific contribute of loneliness to cognitive and behavioral functioning have not yet been determined in ...
Monica Consonni, Veronica Faltracco, Eleonora Dalla Bella, Alessandra Telesca, Enrica Bersano, Anna Nigri, Greta Demichelis, Jean P. Medina, Maria G. Bruzzone, Giuseppe Lauria   +9 more
doaj   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

, 2016
Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational ...
P Talman (13420677), M Needham (13420689), D Rowe (9895835), R Henderson (9866537), D Schultz (9883451), R Macdonnell (13659334), R Edis (10915650), S Mathers (13420680), T Duong (12018110), C Birks (13420686), S Vucic (13311915), M Kiernan (12589726), P McCombe (13311750), Svetha Venkatesh (13096653)   +13 more
core  

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Splicing therapeutics in SMN2 and APOB

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

肌萎缩侧索硬化医疗质量控制指标 Medical Quality Control Indicators for Amyotrophic Lateral Sclerosis

Zhongguo cuzhong zazhi
国家神经系统疾病医疗质量控制中心于2022年设立了运动神经元病（motor neuron disease，MND）质控专病组，启动了肌萎缩侧索硬化（amyotrophic lateral sclerosis，ALS）/MND医疗质量控制体系建设。通过系统调研循证医学证据和国内外指南，MND质控专病组利用德尔菲法制定了ALS医疗质量控制指标体系，从统一诊断标准，建立患者全面管理概念，规范治疗方案等方面系统完善ALS的住院诊疗质量控制过程。该ALS医疗质量控制指标体系共15个指标 ...
The Motor Neuron Disease Working Group of National Center for Healthcare Quality Management in Neurological Diseases
doaj   +1 more source