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Pascal Laforêt

Showing results (61-70 of 164) with videos related to

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Muscle & Nerve|April 12, 2019
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type IIIDavid Tobaly, Pascal Laforêt, Ariane Perry, et al.
Journal of Inherited Metabolic Disease|March 10, 2015
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patientsPierre G Carlier, Noura Azzabou, Paulo Loureiro de Sousa, et al.
Human Mutation|December 3, 2009
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skippingNicolas Wein, Aurélie Avril, Marc Bartoli, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiencyNicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.
The American Journal of Pathology|April 17, 2010
DNAJB2 expression in normal and diseased human and mouse skeletal muscleKristl G Claeys, Magdalena Sozanska, Jean-Jacques Martin, et al.
Journal of Inherited Metabolic Disease|January 23, 2022
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trialJesper H Storgaard, Nicoline Løkken, Karen L Madsen, et al.
Journal of Neurology|May 4, 2026
Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trialsJean-Yves Hogrel, Frédéric Fer, Isabelle Ledoux, et al.
Neurology|May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathyAndoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.
Muscle & Nerve|February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patientsConstantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.
Clinical Neurology and Neurosurgery|May 9, 2026
Feasibility and usefulness of personalised patient-reported outcome measures in the therapeutic follow-up of adult spinal muscular atrophy patientsPascal Cintas, Samuel Pouplin, Louise Debergé, et al.
Pageof 17

Showing results (61-70 of 164) with videos related to

Sort By:
Pageof 17
Muscle & Nerve|April 12, 2019
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type IIIDavid Tobaly, Pascal Laforêt, Ariane Perry, et al.
Journal of Inherited Metabolic Disease|March 10, 2015
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patientsPierre G Carlier, Noura Azzabou, Paulo Loureiro de Sousa, et al.
Human Mutation|December 3, 2009
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skippingNicolas Wein, Aurélie Avril, Marc Bartoli, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiencyNicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.
The American Journal of Pathology|April 17, 2010
DNAJB2 expression in normal and diseased human and mouse skeletal muscleKristl G Claeys, Magdalena Sozanska, Jean-Jacques Martin, et al.
Journal of Inherited Metabolic Disease|January 23, 2022
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trialJesper H Storgaard, Nicoline Løkken, Karen L Madsen, et al.
Journal of Neurology|May 4, 2026
Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trialsJean-Yves Hogrel, Frédéric Fer, Isabelle Ledoux, et al.
Neurology|May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathyAndoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.
Muscle & Nerve|February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patientsConstantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.
Clinical Neurology and Neurosurgery|May 9, 2026
Feasibility and usefulness of personalised patient-reported outcome measures in the therapeutic follow-up of adult spinal muscular atrophy patientsPascal Cintas, Samuel Pouplin, Louise Debergé, et al.
Pageof 17