Results 51 to 60 of about 8,751 (233)

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Effect of nutritional therapy in Emery-Dreifuss muscular dystrophy: a case report. [PDF]

Front Nutr
Emery–Dreifuss muscular dystrophy (EDMD) is a rare, inherited human disease. Similar to other neuromuscular dystrophies, EDMD is clinically characterized by muscle atrophy and weakness, multi-joint contractures with spine rigidity, and cardiomyopathy ...
Valoriani F, Pinelli G, Gabriele S, Menozzi R.   +3 more
europepmc   +2 more sources

Distrofia muscular de Emery-Dreifuss: a propósito de um caso clínico

Revista Portuguesa de Cardiologia, 2012
Resumo: A distrofia muscular de Emery Dreifuss tipo 1 (DMED1) é uma doença familiar, com transmissão recessiva ligada ao X, resultante da mutação de uma proteína do invólucro nuclear, a emerina.
Fátima Saraiva, Dina Rodrigues, Helena Andrade, Luís Negrão, Lino Gonçalves, António Marinho, Luís A. Providência   +6 more
doaj   +1 more source

Mouse models of nesprin-related diseases [PDF]

, 2018
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope,
Akinrinade, Arsenovic, Attali, Baird, Banerjee, Baumann, Baye, Behrens, Can Zhou, Catherine M. Shanahan, Chen, Crisp, Derek T. Warren, Djinovic Carugo, Duong, Espigat-Georger, Fanin, Fridolfsson, Gimpel, González, Gough, Grady, Green, Gros-Louis, Guilluy, Haque, Haskell, Hockemeyer, Holt, Horn, Horn, Izumi, Johnson, Ketema, Ketema, Kosodo, Laquerriere, Lee, Lee, Li Rao, Lindeman, Luke, Mellad, Merrell, Mislow, Mitzner, Morgan, Morimoto, Neumann, Noreau, O'Roak, Olins, Ozaki, Puckelwartz, Puckelwartz, Qiuping Zhang, Rajgor, Rajgor, Razafsky, Razafsky, Razafsky, Razafsky, Razafsky, Rosenberg-Hasson, Roux, Shindo, Sosa, Sosa, Starr, Stierle, Stroud, Synofzik, Taniura, van Berlo, Voit, Warren, Warren, Wilhelmsen, Wilson, Winder, Wynshaw-Boris, Yang, Yu, Yu, Zhang, Zhang, Zhang, Zhang, Zhang, Zhang, Zhen, Zhong, Zhou, Zhou   +93 more
core   +1 more source

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery–Dreifuss Muscular Dystrophy: A Case Report and Literature Review

Orthopaedic Surgery, 2022
Emery–Dreifuss muscular dystrophy (EDMD) is an uncommon, gradually progressive X‐linked myopathy, and it could result in rigid spinal deformity. Only a few case reports have described surgical treatment of cervical hyperlordosis and thoracolumbar ...
Ziyang Tang, Zongshan Hu, X. Qin, Ze-zhang Zhu, Zhen Liu   +4 more
semanticscholar   +1 more source

Cardiac manifestations in Emery–Dreifuss muscular dystrophy [PDF]

Canadian Medical Association Journal, 2018
KEY POINTS A 35-year-old man with a known history of Emery–Dreifuss muscular dystrophy called emergency medical services (EMS) while at work one morning, reporting palpitations, lightheadedness, fatigue and a rapid heart rate.
Whitney, Faiella, Ricardo, Bessoudo
openaire   +2 more sources

Whole-genome sequencing and the clinician: a tale of two cities [PDF]

, 2014
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley, Dickens, Dubowitz, F. Muntoni, Foley, Gualandi, J. He, J. Kim, Jöbsis, Jöbsis, Kim, Lupski, M. G. Hanna, Mercuri, Mercuri, Morrow, N. M. Pearson, Pace, Pan, Phimister, R. D. S. Pitceathly, Straub   +21 more
core   +2 more sources

Elevated TGF \u3b22 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes [PDF]

, 2018
Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders ...
Bernasconi, Pia, Biagini, Elena, Bonne, Gis\ue8le, Boriani, Giuseppe, Cappelletti, Cristina, Carboni, Nicola, Cavalcante, Paola, Columbaro, Marta, Evangelisti, Camilla, Lanzuolo, Chiara, Lattanzi, Giovanna, Maggi, Lorenzo, Mongini, Tiziana, Morandi, Lucia, Muchir, Antoine, Pegoraro, Elena, Politano, Luisa, Prencipe, Sabino, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sabatelli, Patrizia, Santoro, Lucio, Schena, Elisa, Siciliano, Gabriele, Vercelli, Liliana   +25 more
core   +6 more sources

Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery–Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Stem Cell Research, 2020
Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery–Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation.
Kseniya Perepelina, Aleksandra Kostina, Polina Klauzen, Aleksandr Khudiakov, Martina Rabino, Silvia Crasto, Anna Zlotina, Yulia Fomicheva, Alexey Sergushichev, Mari Oganesian, Alexander Dmitriev, Anna Kostareva, Elisa Di Pasquale, Anna Malashicheva   +13 more
doaj   +1 more source

Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]

, 2016
published_or_final_versio
Jiang, Y, Lai, KWH, Lau, VYM, Lee, YK, Ng, KM, RAN, X, Siu, DCW, Tse, HF   +7 more
core   +1 more source