Browsing by Author "XX676192"
Now showing items 21-25 of 25
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Campero, Mario; Hughes, Ricardo; Orellana, Patricia; Bevilacqua, Jorge; Guiloff, Roberto J. (Elsevier B.V., 2018)© 2018 This paper illustrates the cases of two patients with an acute onset of right brachial neuropathic pain, flaccid paralysis and contralateral thermal and thermal pain hypoesthesia, without posterior column impairment ...
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Romero, Norma Beatriz; Bevilacqua, Jorge; Oldfors, Anders; Fardeau, Michel (PERGAMON-ELSEVIER SCIENCE LTD, 2011-02)
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Cea Pisani, Luis Andrés; Bevilacqua, Jorge; Arriagada Abarzúa, Christian; Cárdenas, Ana María; Bigot, Anne; Mouly, Vincent; Sáez, Juan C.; Caviedes Fernández, Pablo (2016)Background: Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several alterations in skeletal muscles, including, inflammation, ...
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Bevilacqua, Jorge; Guecaimburu Ehuletche, María del Rosario; Perna, Abayuba; Dubrovsky, Alberto; Franca, Marcondes C.; Vargas, Steven; Hegde, Madhuri; Claeys, Kristl G.; Straub, Volker; Daba, Nadia; Faria, Roberta; Periquet, Magali; Sparks, Susan; Thibault, Nathan; Araujo, Roberto (BMC, 2020)Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving ...
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Woudt, Lisanne; Di Capua, Gabriella A.; Krahn, Martin; Castiglioni, Claudia; Hughes García, Ricardo; Campero Soffia, Mario; Trangulao, Alejandra; González Hormazabal, Patricio; Godoy Herrera, Raúl; Levy, Nicolas; Urtizberea, Jon Andoni; Jara, Lilian; Bevilacqua, Jorge (WILEY-BLACKWELL, 2016)Introduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients ...