Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Murielle Dunand"'
1
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
Autor: Pascal Laforêt, Henri Marc Bécane, Karim Wahbi, Pascale Richard, Thierry Kuntzer, Patrick Vicart, Murielle Dunand, Anthony Behin, Christophe Meune, Philippe Charron, Denis Duboc, Tanya Stojkovic
Publikováno v: Neuromuscular Disorders : NMD, vol. 22, no. 3, pp. 211-218
To determine incidence and type of major cardiac adverse events in patients with mutated desmin (DES) gene, we retrospectively reviewed baseline medical information, and examined the long-term outcomes of 28 DES patients (17 men, baseline mean age=37
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67996659ab23b9e69a0316b4008189f8
https://doi.org/10.1016/j.nmd.2011.10.019
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3
Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci
Autor: J.A. Lobrinus, Thierry Kuntzer, L. Mittaz, Murielle Dunand, Luisa Bonafé, Pierre-Yves Jeannet
Publikováno v: Neuromuscular Disorders. 17:6-12
We report a large family with a mild form of autosomal dominant nemaline myopathy and a new phenotype. Onset of symptoms was in infancy with hypotonia and motor delay. Weakness involved neck flexors, abdominal and proximal limb muscles. There was no
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cabb905c33ecf4ababf96bebb3734e1
https://doi.org/10.1016/j.nmd.2006.10.005
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5
Marked hemiatrophy in carriers of Duchenne muscular dystrophy
Autor: Sanjeev Rajakulendran, Thierry Kuntzer, Murielle Dunand, Shu C. Yau, Emma J. Ashton, Helen Storey, Joanna McCauley, Stephen Abbs, Francine Thonney, France Leturcq, Johannes A. Lobrinus, Tarek Yousry, Simon Farmer, Janice L. Holton, Michael G. Hanna
Publikováno v: Archives of Neurology, Vol. 67, No 4 (2010) pp. 497-500
ResearcherID
Archives of Neurology, vol. 67, no. 4, pp. 497-500
Objective To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40386fe11a5d3b5f9b7b4fe14aa3acfe
https://archive-ouverte.unige.ch/unige:21243
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6
Unsatisfactory outcomes in myasthenia gravis: influence by care providers
Autor: Thierry Kuntzer, Murielle Dunand, François-Xavier Borruat, François Spertini, Stephan A. Botez, Pascale Roux-Lombard
Publikováno v: Journal of Neurology, Vol. 257, No 3 (2010) pp. 338-343
Journal of Neurology, vol. 257, no. 3, pp. 338-343
Myasthenia gravis (MG) can be difficult to treat despite an available therapeutic armamentarium. Our aim was to analyze the factors leading to unsatisfactory outcome (UO). To this end we used the Myasthenia Gravis Foundation of America classification
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db5a2817b4628de13e1da483cab91349
https://pubmed.ncbi.nlm.nih.gov/19760347
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8
[The role of pathology in neuromuscular diseases]
Autor: Johannes Alexander, Lobrinus, Pierre-Yves, Jeannet, André, Kohler, Murielle, Dunand, Thierry, Kuntzer
Publikováno v: Revue medicale suisse. 3(119)
Myopathies are rare diseases. They may be genetic (muscular dystrophies, metabolic or congenital myopathies) or acquired (inflammatory, drug-related or toxic myopathies and those due to systemic disease). Muscular abnormalities secondary to affection
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::551f15b9ff954e0b9fd6482d555cc5d4
https://pubmed.ncbi.nlm.nih.gov/17727093
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9
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders
Autor: Wolfram Kress, Thierry Kuntzer, Emmanuel Fournier, Pierre-Yves Jeannet, Murielle Dunand, Damien Sternberg, Bertrand Fontaine, Francine Thonney, Patrik Michel
Publikováno v: Musclenerve. 36(5)
The decremental response of the compound muscle action potential (CMAP) to provocative tests is not characterized in genetically verified myotonic disorders. We therefore studied the relationship between decremental responses and mutation type in 10
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c338eefbdaf8aa562b4e95d3c6027c9d
https://pubmed.ncbi.nlm.nih.gov/17654559
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10
[Myasthenia gravis: treatments and remissions]
Autor: Murielle, Dunand, Patrice H, Lalive, Natalia, Vokatch, Thierry, Kuntzer
Publikováno v: Revue medicale suisse. 3(110)
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction, due to the binding of autoantibodies to the nicotinic acetylcholine receptor (AChR), or more rarely to a muscle specific kinase (MuSK). It affects most of the time young w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::72cf18a58aa1df03c342fdf9572a87cc
https://pubmed.ncbi.nlm.nih.gov/17564346
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