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61.
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Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease. [electronic resource] by
- Perniconi, Barbara
- Vauthier-Brouzes, Daniele
- Morélot-Panzini, Capucine
- Dommergues, Marc
- Nizard, Jacky
- Taouagh, Nadjib
- Hogrel, Jean-Yves
- Canal, Aurélie
- Servais, Laurent
- Laforêt, Pascal
Producer: 20180125
In:
Neuromuscular disorders : NMD vol. 26
Availability: No items available.
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62.
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Muscle glycogenosis due to phosphoglucomutase 1 deficiency. [electronic resource] by
- Stojkovic, Tanya
- Vissing, John
- Petit, François
- Piraud, Monique
- Orngreen, Mette C
- Andersen, Grete
- Claeys, Kristl G
- Wary, Claire
- Hogrel, Jean-Yves
- Laforêt, Pascal
Producer: 20090729
In:
The New England journal of medicine vol. 361
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63.
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Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. [electronic resource] by
- Tosserams, Anouk
- Papadopoulos, Constantinos
- Jardel, Claude
- Lemière, Isabelle
- Romero, Norma B
- De Lonlay, Pascale
- Wahbi, Karim
- Voermans, Nicol
- Hogrel, Jean-Yves
- Laforêt, Pascal
Producer: 20181212
In:
Mitochondrion vol. 39
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64.
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Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency. [electronic resource] by
- Wary, Claire
- Laforêt, Pascal
- Eymard, Bruno
- Fardeau, Michel
- Leroy-Willig, Anne
- Bassez, Guillaume
- Leroy, Jean Paul
- Caillaud, Catherine
- Poenaru, Livia
- Carlier, Pierre G
Producer: 20031007
In:
Neuromuscular disorders : NMD vol. 13
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65.
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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. [electronic resource] by
- Fischer, Dirk
- Herasse, Muriel
- Bitoun, Marc
- Barragán-Campos, Héctor M
- Chiras, Jacques
- Laforêt, Pascal
- Fardeau, Michel
- Eymard, Bruno
- Guicheney, Pascale
- Romero, Norma B
Producer: 20060619
In:
Brain : a journal of neurology vol. 129
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66.
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Cold extends electromyography distinction between ion channel mutations causing myotonia. [electronic resource] by
- Fournier, Emmanuel
- Viala, Karine
- Gervais, Hélène
- Sternberg, Damien
- Arzel-Hézode, Marianne
- Laforêt, Pascal
- Eymard, Bruno
- Tabti, Nacira
- Willer, Jean-Claude
- Vial, Christophe
- Fontaine, Bertrand
Producer: 20061114
In:
Annals of neurology vol. 60
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67.
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Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. [electronic resource] by
- Wahbi, Karim
- Meune, Christophe
- Porcher, Raphaël
- Bécane, Henri Marc
- Lazarus, Arnaud
- Laforêt, Pascal
- Stojkovic, Tanya
- Béhin, Anthony
- Radvanyi-Hoffmann, Hélène
- Eymard, Bruno
- Duboc, Denis
Producer: 20120329
In:
JAMA vol. 307
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68.
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Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. [electronic resource] by
- Wein, Nicolas
- Avril, Aurélie
- Bartoli, Marc
- Beley, Cyriaque
- Chaouch, Soraya
- Laforêt, Pascal
- Behin, Anthony
- Butler-Browne, Gillian
- Mouly, Vincent
- Krahn, Martin
- Garcia, Luis
- Lévy, Nicolas
Producer: 20100422
In:
Human mutation vol. 31
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69.
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Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy. [electronic resource] by
- Wary, Claire
- Nadaj-Pakleza, Aleksandra
- Laforêt, Pascal
- Claeys, Kristl G
- Carlier, Robert
- Monnet, Aurélien
- Fleury, Servanne
- Baligand, Céline
- Eymard, Bruno
- Labrune, Philippe
- Carlier, Pierre G
Producer: 20101122
In:
Neuromuscular disorders : NMD vol. 20
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70.
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Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients. [electronic resource] by
- Carlier, Pierre G
- Azzabou, Noura
- de Sousa, Paulo Loureiro
- Hicks, Arnaud
- Boisserie, Jean-Marc
- Amadon, Alexis
- Carlier, Robert-Yves
- Wary, Claire
- Orlikowski, David
- Laforêt, Pascal
Producer: 20160325
In:
Journal of inherited metabolic disease vol. 38
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71.
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Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation. [electronic resource] by
- Fayssoil, Abdallah
- Yaou, Rabah Ben
- Ogna, Adam
- Leturcq, France
- Nardi, Olivier
- Clair, Bernard
- Wahbi, Karim
- Lofaso, Frederic
- Laforet, Pascal
- Duboc, Denis
- Orlikowski, David
- Annane, Djillali
Producer: 20180716
In:
ESC heart failure vol. 4
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72.
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Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. [electronic resource] by
- Wahbi, Karim
- Bougouin, Wulfran
- Béhin, Anthony
- Stojkovic, Tanya
- Bécane, Henri Marc
- Jardel, Claude
- Berber, Nawal
- Mochel, Fanny
- Lombès, Anne
- Eymard, Bruno
- Duboc, Denis
- Laforêt, Pascal
Producer: 20160831
In:
European heart journal vol. 36
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73.
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A high prevalence of arterial hypertension in patients with mitochondrial diseases. [electronic resource] by
- Chong-Nguyen, Caroline
- Stalens, Caroline
- Goursot, Yves
- Bougouin, Wulfran
- Stojkovic, Tanya
- Béhin, Anthony
- Mochel, Fanny
- Berber, Nawal
- Eymard, Bruno
- Duboc, Denis
- Laforêt, Pascal
- Wahbi, Karim
Producer: 20210823
In:
Journal of inherited metabolic disease vol. 43
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74.
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High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. [electronic resource] by
- Wahbi, Karim
- Béhin, Anthony
- Charron, Philippe
- Dunand, Murielle
- Richard, Pascale
- Meune, Christophe
- Vicart, Patrick
- Laforêt, Pascal
- Stojkovic, Tanya
- Bécane, Henri Marc
- Kuntzer, Thierry
- Duboc, Denis
Producer: 20120709
In:
Neuromuscular disorders : NMD vol. 22
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75.
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Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation. [electronic resource] by
- Gentil, Christel
- Leturcq, France
- Ben Yaou, Rabah
- Kaplan, Jean-Claude
- Laforet, Pascal
- Pénisson-Besnier, Isabelle
- Espil-Taris, Caroline
- Voit, Thomas
- Garcia, Luis
- Piétri-Rouxel, France
Producer: 20130625
In:
Human molecular genetics vol. 21
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76.
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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III. [electronic resource] by
- Tobaly, David
- Laforêt, Pascal
- Perry, Ariane
- Habes, Dalila
- Labrune, Philippe
- Decostre, Valerie
- Masingue, Marion
- Petit, Francois
- Barp, Andrea
- Bello, Luca
- Carlier, Pierre
- Carlier, Robert-Yves
Producer: 20191024
In:
Muscle & nerve vol. 60
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77.
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DNAJB2 expression in normal and diseased human and mouse skeletal muscle. [electronic resource] by
- Claeys, Kristl G
- Sozanska, Magdalena
- Martin, Jean-Jacques
- Lacene, Emmanuelle
- Vignaud, Ludivine
- Stockholm, Daniel
- Laforêt, Pascal
- Eymard, Bruno
- Kichler, Antoine
- Scherman, Daniel
- Voit, Thomas
- Israeli, David
Producer: 20101004
In:
The American journal of pathology vol. 176
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78.
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Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. [electronic resource] by
- Young, Sarah P
- Piraud, Monique
- Goldstein, Jennifer L
- Zhang, Haoyue
- Rehder, Catherine
- Laforet, Pascal
- Kishnani, Priya S
- Millington, David S
- Bashir, Mustafa R
- Bali, Deeksha S
Producer: 20120724
In:
American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C
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79.
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High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy. [electronic resource] by
- Sochala, Maximilien
- Porcher, Raphaël
- Stojkovic, Tanya
- Bécane, Henri Marc
- Béhin, Anthony
- Laforêt, Pascal
- Bassez, Guillaume
- Leonard-Louis, Sarah
- Eymard, Bruno
- Furling, Denis
- Duboc, Denis
- Wahbi, Karim
Producer: 20190930
In:
Circulation vol. 138
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80.
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Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency. [electronic resource] by
- Preisler, Nicolai
- Laforêt, Pascal
- Echaniz-Laguna, Andoni
- Ørngreen, Mette C
- Lonsdorfer-Wolf, Evelyne
- Doutreleau, Stephane
- Geny, Bernard
- Stojkovic, Tanya
- Piraud, Monique
- Petit, François M
- Vissing, John
Producer: 20130930
In:
The Journal of clinical endocrinology and metabolism vol. 98
Availability: No items available.
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