Results 71 to 80 of about 51,591 (290)

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

, 2010
Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause ...
Payan, Christine Anne Mary C., Briñas, Laura, Deconinck, Nicolas, Stojkovic, Tanya, A. Ferreiro, E. Dion, Dion, Elisabeth, N. Deconinck, Guicheney, Pascale, Eymard, Bruno, Bonne, Gisèle, T. Stojkovic, Yaou, Rabah Ben, Richard, Pascale, C. Payan, L. Briñas, R. Ben Yaou, P. Richard, Voit, Thomas, V. Allamand, P. Guicheney, B. Eymard, T. Voit, G. Bonne, Ferreiro, Ana, Allamand, Valérie   +25 more
core   +1 more source

Corneal Fleck dystrophy in a Spanish family

, 2020
Corneal fleck dystrophy is an unusual, asymptomatic, autosomal dominant condition. In the pathogenesis, it is hypothesized that a hydrolytic enzyme deficiency of keratocytes is involved, leading to accumulation of mucopolysaccharides and intracellular ...
Rodríguez Calvo de Mora, Marina, Rocha-de-Lossada, Carlos, Alba Linero, Carmen, Rodriguez-Calvo-de-Mora, Marina, Hernando-Ayala, Carlos, Alba-Linero, Carmen, Rocha de Lossada, Carlos, Hernando Ayala, Carlos   +7 more
core   +1 more source

VP427 The Swiss cohort of LAMA2-related muscular dystrophy patients

, 2023
LAMA2-related muscular dystrophy is an autosomal-recessive disorder and one of the most common forms in the group of congenital muscular dystrophies.
N. Lötscher, B. Henzi, G. Stettner, Steiner, L., C. Enzmann, Enzmann, C., D. Baumann, Baumann, D., Jacquier, D., Stettner, G., D. Jacquier, J. Fluss, Henzi, B., L. Steiner, A. Klein, Fluss, J., P. Ripellino, Lötscher, N., Klein, A., Ripellino, P.   +19 more
core   +1 more source

Integrated Opto–Biomechatronics For Single Muscle Fibre Structure‐Function Assessment: The MyoRobot 3.0

Advanced Science, EarlyView.
We present the MyoRobot 3.0, an advanced platform that combines high‐resolution imaging with automated mechanical testing to improve the accuracy of single muscle fibre analysis. The system tracks fibre diameter changes during stretch, preventing major stress miscalculations.
Michael Haug, Moritz Hellmann, Larysa Kovbasyuk, Maria Eleni Vazakidou, Milena Theis, Oliver Friedrich   +5 more
wiley   +1 more source

Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait

Annals of Indian Academy of Neurology
Background and Objectives: Magnetic resonance imaging (MRI) in dysferlinopathy has consistently demonstrated a particular pattern of affliction. We aimed to study muscle MRI characteristics of lower limbs in limb girdle muscular dystrophy (LGMD)-R2 ...
Tanushree Chawla, Dipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Seena Vengalil, Karthik Kulanthaivelu, Jitender Saini, Akshata Huddar, Gopikrishnan Unnikrishnan, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini   +11 more
doaj   +1 more source

Genetic testing for pattern dystrophies

The EuroBiotech Journal, 2017
Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown.
Bertelli, Matteo, Di Nicola, Maura, Viola, Francesco, Colombo, Leonardo, Beccari, Tommaso, DÜNDAR, MUNİS, Coppola, Pamela, Abeshi, Andi   +7 more
openaire   +4 more sources

From Cytoskeletal Remodeling to Oocyte Quality: The Emerging Role of Mechanics

Advanced Science, EarlyView.
Mechanical properties of the oocyte are increasingly recognized as critical determinants of meiotic success and developmental potential. How actomyosin remodeling controls oocyte mechanics, how these properties are altered in pathological conditions, and how they could serve as markers in reproductive medicine are examined.
Anastasia Shihabi, Rose Bulteau, Lucie Barbier, Marie‐Emilie Terret   +3 more
wiley   +1 more source

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis.

PLoS ONE
Myotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystrophy have been conducted.
Rie Asayama, Kaori Tanaka-Nishikubo, Jun Iwanami, Takahiro Fukazawa, Motoi Kanagawa, Naohito Hato   +5 more
doaj   +1 more source

Adult-onset Foveomacular Vitelliform Dystrophy

Adult-onset foveomacular vitelliform dystrophy is one of the most common macular dystrophies, classified within the group of pattern dystrophies. The condition typically arises after the fourth decade of life and manifests with subretinal vitelliform ...
Michał Jabłoński, Jerzy Mackiewicz
core   +1 more source

Aberrant location of inhibitory synaptic marker proteins in the hippocampus of dystrophin-deficient mice [PDF]

, 2014
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that arises from mutations in the dystrophin-encoding gene. Apart from muscle pathology, cognitive impairment, primarily of developmental origin, is also a significant component of the disorder.
Zablocki, Krzysztof, Elżbieta Krasowska, Krasowska Elżbieta, Gorecki, Dariusz C., Swinny, Jerome D., Dariusz C Górecki, Swinny Jerome D., Zabłocki Krzysztof, Jerome D Swinny, Krasowska, Elzbieta, Górecki Dariusz C., Krzysztof Zabłocki   +11 more
core   +1 more source