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Journal of Epidemiology and Population Health
|
March 20, 2025
Analyse des dépenses de santé et des parcours de soins des patients atteints de la maladie de Pompe recevant du Myozyme : une étude observationnelle basée sur les données du système national des données de santé (SNDS)
Alicia LE Bras, Arnaud Nze Ossima, Pascale DE Lonlay, et al.
Journal of the Neurological Sciences
|
February 28, 2012
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency
Edoardo Malfatti, Nazha Birouk, Norma B Romero, et al.
Muscle & Nerve
|
December 23, 2004
Exercise tolerance and daily life in McArdle's disease
Karen Ollivier, Jean-Yves Hogrel, Danielle Gomez-Merino, et al.
Neuromuscular Disorders : NMD
|
December 17, 2009
Rigid spine syndrome revealing late-onset Pompe disease
Pascal Laforêt, Valérie Doppler, Catherine Caillaud, et al.
Journal of Neuromuscular Diseases
|
June 16, 2020
Ganglionopathies Associated with MERRF Syndrome: An Original Report
Maud Michaud, Tanya Stojkovic, Thierry Maisonobe, et al.
Neuromuscular Disorders : NMD
|
July 22, 2008
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
Karim Wahbi, Christophe Meune, El Hadi Hamouda, et al.
Neuromuscular Disorders : NMD
|
May 10, 2011
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
David Orlikowski, Nadine Pellegrini, Hélène Prigent, et al.
Nature Genetics
|
December 26, 2006
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
Judith Fischer, Caroline Lefèvre, Eva Morava, et al.
Molecular Genetics and Metabolism Reports
|
February 21, 2025
Camptocormia as a feature of Mc Ardle's disease: A case report
Mathilde Nicolas, Chloé Giret, Sybille Pellieux, et al.
Molecular Genetics and Metabolism Reports
|
June 2, 2020
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, et al.
Page
of 17
Search research articles
Search
Showing results (21-30 of 164) with videos related to
Sort By:
Page
of 17
Journal of Epidemiology and Population Health
|
March 20, 2025
Analyse des dépenses de santé et des parcours de soins des patients atteints de la maladie de Pompe recevant du Myozyme : une étude observationnelle basée sur les données du système national des données de santé (SNDS)
Alicia LE Bras, Arnaud Nze Ossima, Pascale DE Lonlay, et al.
Journal of the Neurological Sciences
|
February 28, 2012
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency
Edoardo Malfatti, Nazha Birouk, Norma B Romero, et al.
Muscle & Nerve
|
December 23, 2004
Exercise tolerance and daily life in McArdle's disease
Karen Ollivier, Jean-Yves Hogrel, Danielle Gomez-Merino, et al.
Neuromuscular Disorders : NMD
|
December 17, 2009
Rigid spine syndrome revealing late-onset Pompe disease
Pascal Laforêt, Valérie Doppler, Catherine Caillaud, et al.
Journal of Neuromuscular Diseases
|
June 16, 2020
Ganglionopathies Associated with MERRF Syndrome: An Original Report
Maud Michaud, Tanya Stojkovic, Thierry Maisonobe, et al.
Neuromuscular Disorders : NMD
|
July 22, 2008
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
Karim Wahbi, Christophe Meune, El Hadi Hamouda, et al.
Neuromuscular Disorders : NMD
|
May 10, 2011
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
David Orlikowski, Nadine Pellegrini, Hélène Prigent, et al.
Nature Genetics
|
December 26, 2006
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
Judith Fischer, Caroline Lefèvre, Eva Morava, et al.
Molecular Genetics and Metabolism Reports
|
February 21, 2025
Camptocormia as a feature of Mc Ardle's disease: A case report
Mathilde Nicolas, Chloé Giret, Sybille Pellieux, et al.
Molecular Genetics and Metabolism Reports
|
June 2, 2020
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, et al.
Page
of 17