排序方式: 共有11条查询结果,搜索用时 15 毫秒
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Ravel Jean-Marie Benkirane Mehdi Calmels Nadège Marelli Cecilia Ory-Magne Fabienne Ewenczyk Claire Halleb Yosra Tison François Lecocq Claire Pische Guillaume Casenave Philippe Chaussenot Annabelle Frismand Solène Tyvaert Louise Larrieu Lise Pointaux Morgane Drouot Nathalie Bossenmeyer-Pourié Carine Oussalah Abderrahim Guéant Jean-Louis Leheup Bruno Bonnet Céline Anheim Mathieu Tranchant Christine Lambert Laëtitia Chelly Jamel Koenig Michel Renaud Mathilde 《Journal of neurology》2021,268(5):1927-1937
Journal of Neurology - STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1... 相似文献
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Lise Legrand Abdourahmane Diallo Marie-Lorraine Monin Claire Ewenczyk Perrine Charles Richard Isnard Eric Vicaut Gilles Montalescot Alexandra Durr Francoise Pousset 《Am J Cardiovasc Drugs》2020,20(2):209-216
Friedreich’s ataxia (FRDA) is a cerebellar ataxia due to GAA repeat expansions in the FXN gene, and in affected patients, lower left ventricular ejection fraction (LVEF) leads to poorer prognosis. We aimed to identify patients likely to develop worsening LVEF at an early stage. We included 115 FRDA patients aged 30 ± 10 years with 620 ± 238 GAA repeats on the shorter allele and disease onset of 15 ± 7 years. At baseline, left ventricular (LV) hypertrophy was present in 53%, with LVEF 65 ± 7%, LV end diastolic diameter (LVEDD) 43 ± 5 mm, septal wall thickness (SWT) 11.8 ± 2.7 mm, and posterior wall thickness 11.1 ± 2.5 mm. After a mean follow-up of 13 ± 6 years, LVEF ≤ 50% was observed in 12 patients. The main determinants of LVEF ≤ 50% were GAA repeat number on the shorter allele (odds ratio [OR] 1.007, 95% confidence interval [CI] 1.003–1.012, p = 0.002), LVEDD (OR 1.217, 95% CI 1.058–1.399, p = 0.006), and SWT (OR 1.352, 95% CI 1.016–1.799, p = 0.04). High-risk patients were predicted 5 years before LVEF ≤ 50% occurred: area under the curve of 0.91, 95% CI 0.85–0.97. Patients with GAA repeats > 800 were categorized as high risk, patients with 500 < GAA < 800 were high risk if LVEDD was ≥ 52.6 mm and SWT was ≥ 13.3 mm, and patients with GAA < 500 were low risk if LVEDD was < 52.6 mm and SWT was < 13.3 mm. Echocardiographic follow-up combined with size assessment of GAA repeat expansions is a powerful tool to identify patients at high risk of developing LV systolic dysfunction up to 5 years before clinical symptoms. Further studies are mandatory to investigate if these patients would benefit from cardiac interventions. 相似文献
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David Grabli MD PhD Claire Ewenczyk MD Maria‐Clara Coelho‐Braga MD Christelle Lagrange PhD Valerie Fraix MD Philippe Cornu MD Alim‐Louis Benabid MD PhD Marie Vidailhet MD Pierre Pollak MD 《Movement disorders》2009,24(16):2363-2369
Stimulation (DBS) of the globus pallidus (GP) is effective to treat generalized dystonia. Little is known about the evolution of dystonia in case of arrest after a long period of stimulation. This study describes the course of dystonia during a 48 hours period without stimulation followed by a 24 hours period after turning ON the stimulator. 14 patients with generalized dystonia treated with bilateral GP DBS for 3 years or more were recruited. Blinded video‐based analysis was performed using Burke‐Fahn‐Marsden scale at (1) baseline (ON stimulation), (2) up to 48 hours after the stimulator was turned OFF, and (3) 24 hours after the stimulator was turned ON. 13 patients completed the 48 hours OFF‐stimulation period. The dystonia movement score progressively worsened from 24.3 ± 13.9 at baseline to 48.9 ± 19.8 after 48 hours (P < 0.00001). The disability score also worsened from 4.4 ± 1.2 at baseline to 5.7 ± 1.5 after 48 hours without stimulation (P < 0.001). When the neurostimulator was turned ON, the dystonia scores returned to baseline level after 10 hours. The interruption of GP DBS in dystonia results in a progressive worsening which is rapidly reversible once the neurostimulator is turned ON. © 2009 Movement Disorder Society 相似文献
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A. Legrand C. Pujol C. M. Durand A. Mesnil I. Rubera C. Duranton S. Zuily A. B. Sousa M. Renaud J. L. Boucher N. Pietrancosta S. Adham C. Orssaud C. Marelli C. Casali L. Ziccardi N. Villain C. Ewenczyk A. Durr C. Mignot G. Stevanin C. Billon M. Hureaux X. Jeunemaitre C. Goizet J. Albuisson 《Journal of internal medicine》2021,289(5):709-725
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Mandia Daniele Plaze Marion Le Ber Isabelle Ewenczyk Claire Morin Alexandre Carle Guilhem Consoli Angèle Degardin Adrian Amad Ali Moreau Caroline Anheim Mathieu Tranchant Christine Mélé Nicolas Roue-Jagot Carole Lagarde Julien Sarazin Marie Hamelin Lorraine Ellul Pierre Pagan Cécile Pettazzoni Magali Bekri Soumeya Belliard Serge Goizet Cyril Wallon David Lamari Foudil Nadjar Yann 《Journal of neurology》2020,267(11):3371-3377
Journal of Neurology - Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease... 相似文献
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Nadya Pyatigorskaya MD PhD Lydia Yahia-Cherif PhD Rahul Gaurav Claire Ewenczyk MD PhD Cecile Gallea PhD Romain Valabregue PhD Fatma Gargouri PhD Benoit Magnin MD Bertrand Degos MD PhD Emmanuel Roze MD PhD Eric Bardinet PhD Cyril Poupon PhD Isabelle Arnulf MD PhD Marie Vidailhet MD PhD Stéphane Lehericy MD PhD 《Movement disorders》2020,35(1):161-170
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Rahul Gaurav MS Lydia Yahia-Cherif PhD Nadya Pyatigorskaya MD PhD Graziella Mangone MD PhD Emma Biondetti PhD Romain Valabrègue PhD Claire Ewenczyk MD PhD R. Matthew Hutchison PhD Jesse M. Cedarbaum MD Jean-Christophe Corvol MD PhD Marie Vidailhet MD PhD Stéphane Lehéricy MD PhD 《Movement disorders》2021,36(7):1592-1602
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