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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
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2005, Volume 31, Issue 1, pp. 88 - 94
Journal Article
Cell, ISSN 0092-8674, 2009, Volume 137, Issue 2, pp. 235 - 246
This article has been retracted. Please see Elsevier Policy on Article Withdrawal ( ). Reason: Our paper reported the identification of mutations in the gene... 
Nervous system diseases | Children's hospitals
Journal Article
Journal Article
Journal Article
Biological Conservation, ISSN 0006-3207, 01/2018, Volume 217, pp. 66 - 74
Journal Article
Journal Article
Conservation Biology, ISSN 0888-8892, 10/2013, Volume 27, Issue 5, pp. 979 - 987
Journal Article