Zobrazeno 1 - 10
of 118
pro vyhledávání: '"France Woimant"'
Autor:
France Woimant, Aurelia Poujois, Adrien Bloch, Tabaras Jordi, Jean‐Louis Laplanche, Hélène Morel, Corinne Collet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐p
Externí odkaz:
https://doaj.org/article/02eed23b8112453b9b0e5316d3df09f8
High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
Autor:
Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms of its clinical
Externí odkaz:
https://doaj.org/article/62309fdc9f7a409089339d7e688eb0b4
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
Wilson disease (WD) is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthri
Externí odkaz:
https://doaj.org/article/063ab3cda1e64927aafed2d14a95d764
Autor:
Pierre Lozeron, Aurelia Poujois, Alexandra Richard, Sana Masmoudi, Elodie Meppiel, France Woimant, Nathalie Kubis
Publikováno v:
Frontiers in Neural Circuits, Vol 10 (2016)
Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form
Externí odkaz:
https://doaj.org/article/52cff4bbaca74e03a15c592a3a829837
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115375 (2014)
In France, the prevalence of stroke and the level of disability of stroke survivors are little known. The aim of this study was to evaluate functional limitations in adults at home and in institutions, with and without self-reported stroke. A survey
Externí odkaz:
https://doaj.org/article/4b010d31dbd5453581e8395ed78984de
Autor:
Françoise Schmitt, Guillaume Podevin, Joël Poupon, Jérôme Roux, Pierre Legras, Jean-Marc Trocello, France Woimant, Olivier Laprévote, Tuan Huy Nguyen, Souleiman El Balkhi
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e82323 (2013)
BACKGROUND: Wilson's disease (WD) is an inherited disorder of copper metabolism leading to liver failure and/or neurological impairment. Its diagnosis often remains difficult even with genetic testing. Relative exchangeable copper (REC) has recently
Externí odkaz:
https://doaj.org/article/f159baf7f73a443ab08a72d7aef3c95d
Autor:
Claude Hercend, Cyril Bauvais, Guillaume Bollot, Nicolas Delacotte, Philippe Chappuis, France Woimant, Jean-Marie Launay, Philippe Manivet
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26245 (2011)
The diagnostic of orphan genetic disease is often a puzzling task as less attention is paid to the elucidation of the pathophysiology of these rare disorders at the molecular level. We present here a multidisciplinary approach using molecular modelin
Externí odkaz:
https://doaj.org/article/5b1f2f3efb1741888e3f06da6b1635ad
Autor:
Christelle Nilles, Mickael Alexandre Obadia, Rodolphe Sobesky, Jérôme Dumortier, Olivier Guillaud, Chloé Laurencin, Caroline Moreau, Claire Vanlemmens, Fabienne Ory‐Magne, Victor de Ledinghen, Edouard Bardou‐Jacquet, Frederique Fluchère, Corinne Collet, Nouzha Oussedik‐Djebrani, France Woimant, Aurélia Poujois
Publikováno v:
Movement Disorders. 38:321-332
Wilson's disease (WD) is usually diagnosed in children and young adults; limited data exist on late-onset forms.The aim was to characterize the clinical and paraclinical presentations, therapeutic management, and outcomes in patients with late-onset
Autor:
Isabelle Mohr, Hélène Bourhis, France Woimant, Mickael Alexandre Obadia, Müzeyyen Morgil, Erwan Morvan, Uta Merle, Gerald Denk, Aurelia Poujois, Karl Heinz Weiss
Publikováno v:
Journal of gastroenterology and hepatologyReferences.
This retrospective, multicenter study aims to assess the efficacy and safety in Wilson disease (WD) patients treated with trientine tetrahydrochloride (TETA 4HCl) after switch from trientine dihydrochloride (TETA 2HCl).In total, 68 WD patients with s
Autor:
Sarah Benghanem, Etienne Gayat, Nathalie Kubis, Ambre Loiodice, Martine Gavaret, Tarek Sharshar, Arnaud Foucrier, Charles Gregoire, David Cortier, Samy Figueiredo, Alain Cariou, Isabelle Crassard, France Woimant, Mickael Mazighi, Romain Sonneville
Publikováno v:
Clinical Neurophysiology. 150:e128