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Revue Neurologique, ISSN 0035-3787, 02/2017, Volume 173, pp. S1 - S2
Journal Article
Revue Neurologique, ISSN 0035-3787, 02/2017, Volume 173, pp. S2 - S3
Journal Article
Medecine/Sciences, ISSN 0767-0974, 11/2017, Volume 33, pp. 7 - 10
Journal Article
Journal Article
Medecine/Sciences, ISSN 0767-0974, 03/2015, Volume 31, pp. 7 - 10
Journal Article
Bulletin de l'Académie nationale de médecine, ISSN 0001-4079, 01/2015, Volume 199, Issue 1, pp. 19 - 20
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 271 - 278
Journal Article
International Journal of Systematic and Evolutionary Microbiology, ISSN 1466-5026, 08/2012, Volume 62, Issue 8, pp. 1902 - 1907
Journal Article
Book Chapter
2013, ISBN 0444595651, Volume 113
Clinical symptoms of neuromuscular diseases vary according to age and type of primary involvement (spinal motor neuron, nerve, neuromuscular junction or... 
Biopsy | Humans | Physical Examination | Muscle, Skeletal - pathology | Neuromuscular Diseases - diagnosis | Child | Neuromuscular Diseases - pathology | Motor Neurons - pathology
Book Chapter
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2014, Volume 51, Issue 12, pp. 824 - 833
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2013, Volume 125, Issue 3, pp. 439 - 457
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show... 
Pathology | Neurosciences | Medicine & Public Health | Vacuolar ATP-ase | Vacuolar myopathy | Splicing mutations | Autophagy | Lysosomal acidification | PROTEIN | CHAPERONE-MEDIATED AUTOPHAGY | EXCESSIVE AUTOPHAGY | PATHOLOGY | X-LINKED MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGRADATION | H+-ATPASE | MICE | SKELETAL-MUSCLES | ACCUMULATION | SUBUNIT | Vacuolar Proton-Translocating ATPases - genetics | Saccharomyces cerevisiae - genetics | Humans | Lysosomes - genetics | Lysosomal Storage Diseases - prevention & control | Male | Muscle, Skeletal - metabolism | Subcellular Fractions - pathology | Saccharomyces cerevisiae - metabolism | Lysosomes - metabolism | Time Factors | Muscular Diseases - prevention & control | Autophagy - genetics | RNA Interference - physiology | Leucine - metabolism | RNA, Messenger - genetics | Cells, Cultured | Muscle, Skeletal - ultrastructure | Adenosine Triphosphatases - metabolism | Lysosomal Storage Diseases - genetics | Muscular Diseases - pathology | Saccharomyces cerevisiae Proteins - genetics | Mutation - genetics | Subcellular Fractions - metabolism | Lysosomal Storage Diseases - pathology | Animals | Saccharomyces cerevisiae Proteins - metabolism | Vacuoles - metabolism | Mice | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Vacuolar Proton-Translocating ATPases - deficiency | Hydrogen-Ion Concentration | Muscles | Amino acids | Children | Adenosine triphosphatase | Diseases | Protons | Adenosinetriphosphatase | X chromosome | Chaperones | pH effects | Skeletal muscle | Atrophy | H super(+)-transporting ATPase | Cytoplasm | Phagocytosis | Myopathy
Journal Article