Results 121 to 130 of about 433,578 (358)

Slow gait speed for two years, weakness of lower limbs for one year

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI：10.3969/j.issn.1672-6731.2019.09 ...
Hao WU, Zhi-hong SHI, Tong HAN, YAN Xiao-ling, Yong JI   +4 more
doaj  

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

Behavioural Neurology
Introduction. AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise
Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco   +12 more
doaj   +1 more source

Immune-mediated Necrotizing Myopathy With Increased Creatine Phosphokinase and Positive Signal Recognition Particle: A Case Report

Caspian Journal of Neurological Sciences, 2022
Background: Knowledge about Immune-Mediated Necrotizing Myopathy (IMNM) has received significantly attention in recent years. In this study, we report a rare case of IMNM with increased Creatine Phosphokinase (CPK) and positive Signal Recognition ...
Seyed Mohammad Masoud Hojati, Payam Saadat, Shayan Alijanpour   +2 more
doaj  

Serum Antibodies to N-Glycolylneuraminic Acid Are Elevated in Duchenne Muscular Dystrophy and Correlate with Increased Disease Pathology in Cmahmdx Mice [PDF]

, 2021
Paul T. Martin, Kunio Kawanishi, Anna Ashbrook, Bethannie Golden, Annie N. Samraj, Kelly E. Crowe, Deborah A. Zygmunt, Jonathan Okerblom, Hai Yu, Agatha E. Maki, Sandra Diaz, Xi Chen, Paul M.L. Janssen, Ajit Varki   +13 more
openalex   +1 more source

The Aging Blood: Cellular Origins, Circulating Drivers, and Therapeutic Potential

Aging and Cancer, EarlyView.
As a conduit linking all organs, the blood system both reflects and actively drives systemic aging. This review highlights how circulating pro‐aging and antiaging factors and age‐associated hematopoietic stem cell dysfunction contribute to immunosenescence and multi‐organ decline, positioning the hematopoietic system as a target for aging intervention.
Hanqing He, Jianwei Wang
wiley   +1 more source

Facts about Wildlife Diseases: Capture Myopathy in Farmed White-Tailed Deer

EDIS
This publication discusses causes, clinical signs, and ways to reduce risk of capture myopathy in farmed white-tailed deer. Written by Juan M. Campos Krauer, and published by the Veterinary Medicine—Department of Large Animal Clinical Sciences, UF/IFAS ...
Juan Manuel Campos Krauer
doaj   +1 more source

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. [PDF]

Neurol Genet, 2020
Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S.   +12 more
europepmc   +1 more source

500. Gene Therapy Rescues Disease Phenotype in the Oculopharyngeal Muscular Dystrophy Mouse Model [PDF]

, 2016
George Dickson, Alberto Malerba, Pierre Klein, Susan Jarmin, Houria Bachtarzi, Arnaud Ferry, Gillian Butler‐Browne, David Suhy, Michael W. Graham, Capucine Trollet   +9 more
openalex   +1 more source

Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs [PDF]

, 2023
Jessica Lee, Philip Millington, Kavinda Dayasiri, Sithara Ramdas, Sandeep Jayawant, Geetha Anand   +5 more
openalex   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source