Results 71 to 80 of about 9,606,287 (373)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Acceptability of a Protein Oral Nutritional Supplement with Xanthan Gum in Patients with Neuromuscular Diseases and Dysphagia: A Cross-Sectional Study

Gastrointestinal Disorders
Background/Objectives: Oropharyngeal dysphagia (OD) is a prevalent symptom in patients with neuromuscular diseases (NMDs) and increases the risk of aspiration and malnutrition.
Federica Felloni, Luca Costantini, Michela Coccia   +2 more
doaj   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

Temporal and intra-horse consistency of circulating myostatin concentrations in Thoroughbred racehorses

Scientific Reports
In Thoroughbred horses, a highly prevalent short interspersed nuclear element (SINE) mutation in the myostatin gene (MSTN) promoter influences circulating myostatin concentration and is associated with muscle morphology, fracture risk and optimal race ...
Katherine Hanousek, Victoria O’Hara, Dominique O. Riddell, Richard J. Piercy   +3 more
doaj   +1 more source

Complex coordination of cell plasticity by a PGC-1α-controlled transcriptional network in skeletal muscle [PDF]

, 2015
Skeletal muscle cells exhibit an enormous plastic capacity in order to adapt to external stimuli. Even though our overall understanding of the molecular mechanisms that underlie phenotypic changes in skeletal muscle cells remains poor, several factors ...
Agrawal, Aitchison, Altschul, Andersson, Blows, Blows, Bonduriansky, Brooks, Chenoweth, Chenoweth, Chung, Connallon, Coyne, Dallerac, Darwin, Doerge, Eyre-Walker, Fang, Ferreira, Ferveur, Fiumera, Frentiu, Gibbs, Gosden, Haldane, Hereford, Hine, Hine, Hine, Howard, Howard, Johnston, Kennington, Kingsolver, Kistler, Labeur, Lande, Long, Magwire, Mousseau, Park, Rako, Reinhart, Ritchie, Roff, Rundle, Sall, Siller, Swanson, Wagner, Weeks, Wilkinson, Zhang   +52 more
core   +4 more sources

The prevalence and severity of disease-related disabilities and their impact on quality of life in neuromuscular diseases

Disability and Rehabilitation, 2019
Purpose: People with neuromuscular disease experience lower quality of life levels than people from the general population. We examined the prevalence and severity of a broad range of neuromuscular disease-related disabilities and their impact on health ...
I. Bos, K. Wynia, J. Almansa, G. Drost, B. Kremer, J. Kuks   +5 more
semanticscholar   +1 more source

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira, Xu Zhang, Takayuki Fujii, Mikio Mitsuishi, Miho Ushijima, Sato Yoshidomi, Ayako Sakoda, Tomohiro Imamura, Satoshi Kuwabara, Noriko Isobe, Yuri Nakamura   +10 more
wiley   +1 more source

Challenges Faced by Women With Neuromuscular Diseases When Having to Urinate Away From Home

Global Qualitative Nursing Research
The aim of this study was to investigate the challenges women with neuromuscular disease face when having to urinate when away from home. The design for this study was qualitative using the interpretive description methodology and the Sense of Coherence ...
Charlotte Handberg, Bente Kristensen, Bente Thoft Jensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Ulla Werlauff   +6 more
doaj   +1 more source

Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer [PDF]

, 2005
Lysosomal storage is the most common cause of neurodegenerative brain disease in preadulthood. However, the underlying cellular mechanisms that lead to neuronal dysfunction are unknown.
Bellen, Hugo J, Callaerts, Patrick, Dermaut, Bart, Kania, Artur, Norga, Koenraad K, Pan, Hongling, Verstreken, Patrik, Zhou, Yi   +7 more
core   +3 more sources

Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih, Sara Samadzadeh, Charlotte Bereuter, Seyedamirhosein Motamedi, Claudia Chien, Pablo Villoslada, Hadas Stiebel‐Kalish, Nasrin Asgari, Yang Mao‐Draayer, Marius Ringelstein, Joachim Havla, Marco Aurélio Lana Peixoto, Ho Jin Kim, Jacqueline Palace, Maria Isabel Leite, Srilakshmi M. Sharma, Fereshteh Ashtari, Rahele Kafieh, Lekha Pandit, Orhan Aktas, Philipp Albrecht, Letizia Leocani, Itay Lotan, Sasitorn Siritho, Jérôme de Seze, Romain Marignier, Caroline Froment Tilikete, Denis Bernardi Bichuetti, Ivan Maynart Tavares, Ayse Altintas, Anu Jacob, Saif Huda, Ibis Soto de Castillo, Lawrence J. Cook, Michael R. Yeaman, Axel Petzold, Alexander U. Brandt, Friedemann Paul, Frederike C. Oertel, Hanna G. Zimmermann, with the Guthy Jackson Charitable Foundation—International Clinical Consortium and CROCTINO Collaborators   +40 more
wiley   +1 more source