Results 31 to 40 of about 47,101 (300)

Vestibular impairment in Charcot–Marie–Tooth disease [PDF]

Journal of Neurology, 2020
To find out if Charcot-Marie-Tooth (CMT) patients, who have peripheral vestibular as well as peripheral somatosensory impairment, have worse postural balance than those who do not.We studied 32 patients with various CMT phenotypes and genotypes. Vestibular function was measured with the video head impulse test (vHIT) which tests vestibulo-ocular reflex
Gülden Akdal, Koray Koçoğlu, Tural Tanrıverdizade, Elçin Bora, Fikret Bademkıran, Ayşe Nur Yüceyar, Özgül Ekmekçi, İhsan Şükrü Şengün, Hatice Karasoy   +8 more
openaire   +8 more sources

Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle. [PDF]

, 2016
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged
Bannerman, Peter, Burns, Travis, Miers, Laird, Pleasure, David, Xu, Jie   +4 more
core   +9 more sources

CheXseen: Unseen Disease Detection for Deep Learning Interpretation of Chest X-rays [PDF]

arXiv, 2021
We systematically evaluate the performance of deep learning models in the presence of diseases not labeled for or present during training. First, we evaluate whether deep learning models trained on a subset of diseases (seen diseases) can detect the presence of any one of a larger set of diseases.
arxiv  

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2007
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B., Sackley, Catherine, Turner-Stokes, Lynne, Wade, Derick T.   +3 more
core   +1 more source

KIAA1840 mutations cause ARCMT2 [PDF]

, 2020
Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes.
Barsottini, Orlando G. P., Caltagirone, Carlo, Casella, Antonella, Gaudiello, Fabrizio, Giudice, Temistocle Lo, Kawarai, Toshitaka, Massa, Roberto, Mearini, Marzia, Montecchiani, Celeste, Orlacchio, Antonio, Pedace, Lucia, Pedroso, José L., St George-Hyslop, Peter H., Terracciano, Chiara   +13 more
core  

Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model [PDF]

, 2019
Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system.
A.K.M.G. Muhammad, Antonietta Franco, Bergamin, Bin Lu, Burté, Cartoni, Cathleen M. Lutz, Chung, El Fissi, Gerald W. Dorn, Guyenet, Jesse Landeros, Lee, Michael Vazquez, Ritchie Ho, Robert H. Baloh, Rouzier, Santel, Santel, Shaomei Wang, Sharon Carmona, Shaughn Bell, Verhoeven, Yueqin Zhou   +23 more
core   +2 more sources

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

Communications Biology, 2022
GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf, Alireza Pouya, Sara Bitar, Annika Pfeiffer, Diones Bueno, Liliana Rojas-Charry, Sabine Arndt, David Gomez-Zepeda, Stefan Tenzer, Federica Dal Bello, Caterina Vianello, Sandra Ritz, Jonas Schwirz, Kristina Dobrindt, Michael Peitz, Eva-Maria Hanschmann, Pauline Mencke, Ibrahim Boussaad, Marion Silies, Oliver Brüstle, Marta Giacomello, Rejko Krüger, Axel Methner   +22 more
doaj   +1 more source

Ontology Based Information Extraction for Disease Intelligence [PDF]

International Journal of Research in Computer Science, 2 (6): pp. 7-19, November 2012. doi:10.7815/ijorcs.26.2012.051, 2012
Disease Intelligence (DI) is based on the acquisition and aggregation of fragmented knowledge of diseases at multiple sources all over the world to provide valuable information to doctors, researchers and information seeking community. Some diseases have their own characteristics changed rapidly at different places of the world and are reported on ...
arxiv   +1 more source

Update on Charcot–Marie–Tooth disease [PDF]

Current Opinion in Neurology, 2015
Charcot-Marie-Tooth disease (CMT) is the common terminology used to describe the hereditary neuropathies. This update reviews advances in the past year in our understanding of these diseases, including some important earlier references.In the past year, advances in next-generation sequencing continued to increase the number of genes associated with CMT.
Laurie Gutmann, Michael E. Shy
openaire   +6 more sources

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E [PDF]

, 2017
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with ...
Bai, Yunhong, Connolly, Anne M, Grider, Tiffany, Kamholz, John, Lupski, James R, Shy, Michael E, Wang, David S, Wu, Xingyao, Zaidman, Craig   +8 more
core   +2 more sources