Results 81 to 90 of about 49,167 (262)

Neurodegenerative Charcot–Marie–Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases

Journal of Biological Chemistry, 2019
Aminoacyl-tRNA synthetases (aaRSs) are essential enzymes that catalyze the first reaction in protein biosynthesis, namely the charging of transfer RNAs (tRNAs) with their cognate amino acids.
Na Wei, Qian Zhang, Xiang-Lei Yang
semanticscholar   +1 more source

Evaluating the peripheral nervous system pathology of Alzheimer's disease utilizing a functional human NMJ microphysiological system

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Alzheimer's Disease (AD) is a central nervous system (CNS) neurodegenerative disease leading to dementia, but can also show symptoms of motor deficits. It is not clear whether the peripheral motor deficits in AD are derived from upstream centers or intrinsic to the neuromuscular circuit.
Akhmetzada Kargazhanov, Romy Aiken, Kenneth Hawkins, Rafael Lopez, Ahmad Nawaz, Gaurav Srivastava, Chase Miller, Will Bogen, Christopher Long, David Morgan, Xiufang Guo, James Hickman   +11 more
wiley   +1 more source

Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition

The Turkish Journal of Pediatrics, 2019
We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy ...
Maria Gogou, Efterpi Pavlidou, Evangelos Pavlou, Theodotis Papageorgiou, Athanasios Tragiannidis, Andreas Giannopoulos, Emmanuel Hatzipantelis   +6 more
doaj   +1 more source

Charcot-Marie-Tooth Disease Type 1A: Axonal Lesions

Pediatric Neurology Briefs, 2000
The clinical and electrophysiological phenotype in 42 patients with Charcot-Marie-Tooth disease type 1A (CMT1A) were analysed at Wayne State University, Detroit, MI.
J Gordon Millichap
doaj   +1 more source

Prevalence and orthopedic management of foot and ankle deformities in Charcot Marie Tooth disease [PDF]

, 2006
Introduction/Aims: We aimed to determine whether specific severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) vaccines may be associated with acute-onset polyradiculoneuropathy and if they may result in particular clinical presentations. Methods:
Aagaard, Abbot, Allen, Babault, Behm, Behm, Behm, Belanger, Bigland-Ritchie, Blimkie, Carolan, Deschenes, Gandevia, Gossen, Guissard, Herbert, Jewell, Kellis, Kent-Braun, Klein, Krevolin, Kubo, Lipold, Loring, Maganaris, Martin, Merton, Muraoka, Newman, Onambele, Pearson, Pearson, Reeves, Reeves, Todd, Yehuda   +35 more
core   +4 more sources

Variant Prioritization by Pedigree‐Based Haplotyping

Genetic Epidemiology, Volume 50, Issue 3, April 2026.
ABSTRACT Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non‐coding regions, is a challenge.
Rafael A. Nafikov, Harkirat K. Sohi, Alejandro Q. Nato Jr., Andrea R. Horimoto, Tyler R. C. Day, Thomas D. Bird, Anita L. DeStefano, Elizabeth E. Blue, Ellen M. Wijsman   +8 more
wiley   +1 more source

Genetics of Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 1998
The nomenclature, classification, and genetic basis of Charcot-Marie-Tooth (CMT) disease are reviewed from the Department of Molecular and Cell Biology, University of Aberdeen Medical School, Scotland.
J Gordon Millichap
doaj   +1 more source

Satisfaction with ankle foot orthoses in individuals with Charcot‐Marie‐Tooth disease

Muscle and Nerve, 2020
Ankle foot orthoses (AFOs) are commonly prescribed to individuals with Charcot‐Marie‐Tooth disease (CMT). The aim of this study was to evaluate patient reported satisfaction with orthotic devices and services in individuals with CMT to provide ...
Riccardo Zuccarino, Kirsten M. Anderson, M. Shy, J. Wilken   +3 more
semanticscholar   +1 more source

PDXK‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We report a patient carrying a novel missense variant c.826G>C, p.(Ala276Pro) found in compound heterozygous state with a previously reported variant in the PDXK gene. In silico analysis and our functional studies showed that the novel variant disrupts splicing, which leads to degradation of the aberrant transcript, thereby extending the known disease ...
Dmitrii Subbotin, Daria Akimova, Elena Dadali, Kristina Mikhalchuk, Artem Borovikov, Vitaly Kadyshev, Mikhail Skoblov, Aysylu Murtazina   +7 more
wiley   +1 more source

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease

Journal of Tissue Engineering
Peripheral neuropathies are disorders affecting the peripheral nervous system. Among them, Charcot-Marie-Tooth disease is an inherited sensorimotor neuropathy for which no effective treatment exists yet.
Camille Scherrer, Camille Loret, Nicolas Védrenne, Colman Buckley, Anne-Sophie Lia, Vincent Kermene, Franck Sturtz, Frédéric Favreau, Amandine Rovini, Pierre-Antoine Faye   +9 more
doaj   +1 more source