Search Results - "Bisciglia, Michela"

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants by González-del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B., Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo

“…Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis…”
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Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene by Bisciglia, Michela, Kadhim, Hazim, Lecomte, Sophie, Vandernoot, Isabelle, Desmyter, Laurence, Remiche, Gauthier

“…Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal…”
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A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency by Bisciglia, Michela, Froissart, Roseline, Bedat-Millet, Anne Laure, Romero, Norma Beatriz, Pettazzoni, Magali, Hogrel, Jean-Yves, Petit, François M., Stojkovic, Tanya

“…Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria…”
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Choreoathetotic syndrome following cardiac surgery by Bisciglia, Michela, London, Frédéric, Hulin, Jonathan, Peeters, André, Ivanoiu, Adrian, Jeanjean, Anne

“…Abstract Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically…”
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Neuralgic amyotrophy associated with hepatitis E virus (HEV) infection: a case report by Bisciglia, Michela, Van den Bergh, Peter, Duprez, Thierry, Kabamba, Benoit Mukadi, Ivanoiu, Adrian

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Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy by Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, Sacconi, Sabrina

“…Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic…”
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New treatments for myasthenia: a focus on antisense oligonucleotides by Angelini, Corrado, Martignago, Sara, Bisciglia, Michela

“…Autoimmune myasthenia gravis (MG) is a neuromuscular disorder caused by autoantibodies directed against the acetylcholine receptor (AChR). Current symptomatic…”
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Les immunoglobulines sous-cutanées dans le traitement des formes réfractaires de myasthénie généralisée auto-immune : à propos de deux cas by Bisciglia, Michela, Saheb, Samir, Eymard, Bruno, Benveniste, Olivier, Béhin, Anthony

“…Au total, 10 % des patients avec une myasthénie auto-immune (MG) présentent des formes généralisées réfractaires au traitement. Les immunoglobulines par voie…”
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Myopathie des ceintures et ophtalmoplégie associées à deux nouvelles mutations du gène MYH2 by Bisciglia, Michela, Rendu, John, Malfatti, Edoardo, Romero, Norma, Méneret, Aurélie, Maisonobe, Thierry, Stojkovic, Tanya

“…Nous présentons 2 observations de myopathie reliée au gène MYH2, codant pour la chaîne lourde de la myosine de type IIa, responsable de myopathies héréditaires…”
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Neuralgic amyotrophy associated with hepatitis E virus (HEV) infection: a case report by Bisciglia, Michela, Van den Bergh, Peter, Duprez, Thierry, Kabamba, Benoit Mukadi, Ivanoiu, Adrian

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Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants by González-Del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B, Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo

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