Results 51 to 60 of about 29,182 (218)

Preclinical translational platform of neuroinflammatory disease biology relevant to neurodegenerative disease

Journal of Neuroinflammation
Neuroinflammation is a key driver of neurodegenerative disease, however the tools available to model this disease biology at the systems level are lacking.
Kelley C. Larson, Lauren H. Martens, Michael Marconi, Christopher Dejesus, Suzanne Bruhn, Thomas A. Miller, Barbara Tate, Jonathan M. Levenson   +7 more
doaj   +1 more source

Effectiveness of a specific physical therapy program for Charcot-Marie-Tooth on sleep quality, pain perception, and nocturnal cramps: a pilot study

Sleep Science, 2022
Introduction: Chronic pain, nocturnal cramps, and sleep alterations are prevalent symptoms and signals in Charcot-Marie-Tooth disease patients. Sleep and pain are bidirectionally related and physical therapy can improve the binomial sleep and pain ...
Cynthia Coelho Souza, Julia Ribeiro da Silva Vallim, Eduardo Luis de Aquino Neves, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Adriano Antunes de Souza Araujo   +7 more
doaj   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family

Arquivos de Neuro-Psiquiatria, 1972
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery, Décio Cassiani Altimari, Luiz G. Gagliardi-Ferreira, José L. Alonso Nieto   +3 more
doaj  

A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report

Journal of Investigative Medicine High Impact Case Reports, 2022
Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with ...
Carmela V. San Luis MD, Coreen Schwartzlow MD, Kenkichi Nozaki MD, PhD, Eroboghene E. Ubogu MD   +3 more
doaj   +1 more source

Dynamin 2 in Charcot-Marie-Tooth Disease [PDF]

, 2012
Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton.
Takei, Kohji, Tanabe, Kenji
core   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot–Marie–Tooth disease 4B vocal cord paralysis: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting.
Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh   +5 more
doaj   +1 more source

Ascorbic Acid in Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2009
Ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of Charcot-Marie-Tooth disease (CMT1A).
J Gordon Millichap
doaj   +1 more source

Upgrade on the orthopedic approach in Charcot-Marie-Tooth diseases [PDF]

, 2018
[Resumen] Objetivos Este artículo pretende ofrecer una síntesis acerca de las principales características de la intervención y abordaje de las complicaciones del pie en personas afectadas por las enfermedades de Charcot-Marie-Tooth.
Garabal-Barbeira, Jessica, Groba, Betania, Nieto-Riveiro, Laura, Pazos, A., Pereira-Loureiro, Javier, Pousada, Thais   +5 more
core   +3 more sources