Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Michela Bisciglia"'
Autor:
Ariadna González-del Angel, Michela Bisciglia, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B. Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis.Methods: We performed detailed clinical, muscle histopathology and molecular studies includ
Externí odkaz:
https://doaj.org/article/ff0650617e584faf986128ad246ff64e
Autor:
Norma B. Romero, Jean-Yves Hogrel, Francois Michael Petit, Michela Bisciglia, Tanya Stojkovic, Roseline Froissart, Magali Pettazzoni, Anne Laure Bedat-Millet
Publikováno v:
Journal of the Neurological Sciences. 424:117391
Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria and progressive muscle weakness. PhK deficiency is due to mutations in the PHKA1 gene inherit
Autor:
Adrian Ivanoiu, Jonathan Hulin, Frédéric London, André Peeters, Michela Bisciglia, Anne Jeanjean
Publikováno v:
Journal of Clinical Anesthesia. 36:59-61
Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically manifesting after a latent period of normality and is usually related with long extracorporeal circulation ti
Publikováno v:
Acta Neurologica Belgica. 117:555-557
Autor:
Edoardo Malfatti, Aurélie Méneret, John Rendu, Norma B. Romero, Tanya Stojkovic, Thierry Maisonobe, Michela Bisciglia
Publikováno v:
Revue Neurologique. 175:S33
Introduction Nous presentons 2 observations de myopathie reliee au gene MYH2, codant pour la chaine lourde de la myosine de type IIa, responsable de myopathies hereditaires associees a une ophtalmoplegie. Observation Le premier patient, âge de 54 an
Publikováno v:
Revue Neurologique. 174:S46
Introduction Au total, 10 % des patients avec une myasthenie auto-immune (MG) presentent des formes generalisees refractaires au traitement. Les immunoglobulines par voie sous-cutanee (IgSC) pourraient etre une alternative efficace pour stabiliser la
Publikováno v:
Drug Design, Development and Therapy
Drug Design, Development and Therapy, Vol 2013, Iss default, Pp 13-17 (2013)
Drug Design, Development and Therapy, Vol 2013, Iss default, Pp 13-17 (2013)
Corrado Angelini,1 Sara Martignago,2 Michela Bisciglia21IRCCS S Camillo, Via Alberoni, Venice, Italy; 2Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, ItalyAbstract: Autoimmune myasthenia gravis (MG) is a neuromus