Results 61 to 70 of about 47,101 (300)

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

Mixture of Input-Output Hidden Markov Models for Heterogeneous Disease Progression Modeling [PDF]

arXiv, 2022
A particular challenge for disease progression modeling is the heterogeneity of a disease and its manifestations in the patients. Existing approaches often assume the presence of a single disease progression characteristics which is unlikely for neurodegenerative disorders such as Parkinson's disease.
arxiv  

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Emerging functions of mammalian mitochondrial fusion and fission [PDF]

, 2005
Mitochondria provide a myriad of services to the cell, including energy production, calcium buffering and regulation of apoptosis. How these diverse functions are coordinated among the hundreds of mitochondria in a given cell is largely unknown, but is ...
Chan, David C., Chen, Hsiuchen
core   +1 more source

Anaesthesia and Charcot-Marie-Tooth Disease [PDF]

Southern African Journal of Anaesthesia and Analgesia, 2006
No Abstract. Southern African Journal of Anaesthesia and Analgesia Vol.
Bösenberg, A, Larkin, K
openaire   +2 more sources

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 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  

The Effect of Disease-induced Mortality on Structural Network Properties [PDF]

PLoS ONE, 10, e0136704 (2015), 2015
As the understanding of the importance of social contact networks in the spread of infectious diseases has increased, so has the interest in understanding the feedback process of the disease altering the social network. While many studies have explored the influence of individual epidemiological parameters and/or underlying network topologies on the ...
arxiv   +1 more source