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Journal of Neuromuscular Diseases
|
April 22, 2025
A model to predict the 6-Minute Walk Distance in Pompe disease
Audrey El Kaïm, Frédéric Fer, Valérie Decostre, et al.
Neuromuscular Disorders : NMD
|
January 14, 2017
Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients
Vadim Afanasiev, Sophie Demeret, Francis Bolgert, et al.
Neurology
|
November 17, 2017
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency
Mads Godtfeldt Stemmerik, Karen Lindhardt Madsen, Pascal Laforêt, et al.
Neurology
|
January 24, 2014
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial
Mette Cathrine Ørngreen, Karen Lindhardt Madsen, Nicolai Preisler, et al.
Brain : a Journal of Neurology
|
April 19, 2007
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Karine Auré, Hélène Ogier de Baulny, Pascal Laforêt, et al.
Journal of Inherited Metabolic Disease
|
December 28, 2020
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
Édouard Berling, Pascal Laforêt, Karim Wahbi, et al.
JIMD Reports
|
June 27, 2019
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency
Karen L Madsen, Nicolai Preisler, Astrid E Buch, et al.
Neuromuscular Disorders : NMD
|
October 1, 2013
PNPLA2 mutation: a paediatric case with early onset but indolent course
Laurine Perrin, Léonard Féasson, Alain Furby, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Andoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Page
of 17
Search research articles
Search
Showing results (11-20 of 164) with videos related to
Sort By:
Page
of 17
Journal of Neuromuscular Diseases
|
April 22, 2025
A model to predict the 6-Minute Walk Distance in Pompe disease
Audrey El Kaïm, Frédéric Fer, Valérie Decostre, et al.
Neuromuscular Disorders : NMD
|
January 14, 2017
Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients
Vadim Afanasiev, Sophie Demeret, Francis Bolgert, et al.
Neurology
|
November 17, 2017
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency
Mads Godtfeldt Stemmerik, Karen Lindhardt Madsen, Pascal Laforêt, et al.
Neurology
|
January 24, 2014
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial
Mette Cathrine Ørngreen, Karen Lindhardt Madsen, Nicolai Preisler, et al.
Brain : a Journal of Neurology
|
April 19, 2007
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Karine Auré, Hélène Ogier de Baulny, Pascal Laforêt, et al.
Journal of Inherited Metabolic Disease
|
December 28, 2020
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
Édouard Berling, Pascal Laforêt, Karim Wahbi, et al.
JIMD Reports
|
June 27, 2019
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency
Karen L Madsen, Nicolai Preisler, Astrid E Buch, et al.
Neuromuscular Disorders : NMD
|
October 1, 2013
PNPLA2 mutation: a paediatric case with early onset but indolent course
Laurine Perrin, Léonard Féasson, Alain Furby, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Andoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Page
of 17