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Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 357 - 362
Abstract Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the EPM2A (laforin glycogen phosphatase) or EPM2B... 
Review Article | UNDERLIES | Lafora Disease | PHOSPHATASE | DEPLETION | ASTROCYTES | CLINICAL NEUROLOGY | POLYGLUCOSAN BODY DISEASE | GLYCOGEN | polyglucosan body | BODIES | HYPERPHOSPHORYLATION | PEDIATRICS | ACCUMULATION | MUTATIONS | progressive myoclonus epilepsy
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 10/2013, Volume 127, Issue 1, pp. 101 - 113
Uncontrolled elongation of glycogen chains, not adequately balanced by their branching, leads to the formation of an insoluble, presumably neurotoxic, form of... 
adult polyglucosan body disease | glycogen branching enzyme | glycogen synthase | polyglucosan bodies | autophagy | polyglucosan | FORM | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCLE | STORAGE-DISEASE | ASTROCYTES | NEUROSCIENCES | MOUSE MODEL | NEURONS | ENERGY-METABOLISM | BINDING | LAFORIN | 1,4-alpha-Glucan Branching Enzyme - drug effects | RNA, Small Interfering - genetics | Enzyme Inhibitors | Phosphorylation | Neurotoxicity Syndromes - genetics | TOR Serine-Threonine Kinases - metabolism | Apoptosis - drug effects | Humans | Cerebral Cortex - cytology | Cerebral Cortex - metabolism | Starvation - metabolism | TOR Serine-Threonine Kinases - antagonists & inhibitors | Adenosine Triphosphate - metabolism | RNA, Small Interfering - biosynthesis | 1,4-alpha-Glucan Branching Enzyme - genetics | Female | Glycogen Synthase - antagonists & inhibitors | Cerebral Cortex - drug effects | Glucans - toxicity | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Lymphocytes - metabolism | Transduction, Genetic | Rats | Neurotoxicity Syndromes - prevention & control | Glycogen Storage Disease - metabolism | Neurotoxicity Syndromes - enzymology | Animals | Fibroblasts - drug effects | Lymphocytes - drug effects | Aged | Primary Cell Culture | Microscopy, Fluorescence | Glucose metabolism | Enzymes | Starvation | Synthesis | RNA | Glycogen | Analysis | Neurochemistry | Neurotoxicity | Binding sites | Index Medicus | Apoptosis
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 02/2019, Volume 90, Issue 2, pp. 124 - 124
Correspondence to Dr Haruki Koike, Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan;... 
neurofascin | amyloid | amyloidosis | pathology | polyglucosan body | lymphoma | biopsy | CIDP | neurolymphomatosis | SURGERY | POLYNEUROPATHY | PSYCHIATRY | CLINICAL NEUROLOGY | Morphology
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2018, Volume 57, Issue 5, pp. E122 - E124
We recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the... 
polyglucosan body myopathy‐2 | glycogen storage disease XV | myopathology | glycogenin‐1 | metabolic myopathies | polyglucosan body myopathy-2 | glycogenin-1 | MRI | MUTATION | STORAGE-DISEASE | GYG1 | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Glycogen | Muscles | Myopathy | Life Sciences | Human health and pathology
Journal Article
Journal Article
Nutrition in Clinical Practice, ISSN 0884-5336, 12/2019, Volume 34, Issue 6, pp. 935 - 939
Polyglucosan inclusion body myopathy (PIBM) is a recently described gastrointestinal neuromuscular disease. Given its rarity, very little is known of its... 
gastrointestinal neuromuscular disease | parenteral nutrition | polyglucosan body myopathy | enteric dysmotility
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 4/2012, Volume 21, Issue 7, pp. 1521 - 1533
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 2017, Volume 58, Issue 8, pp. 1598 - 1612
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 346 - 349
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next... 
Limb girdle muscle weakness | Progressive muscle weakness | Glycogen storage disease | Polyglucosan body myopathy | Muscles | Youth | Teenagers
Journal Article
Revue Neurologique, ISSN 0035-3787, 10/2016, Volume 172, Issue 10, pp. 541 - 545
The field of glycogenosis has been greatly expanded over the past few years with the discovery of new metabolic diseases that have allowed new metabolic... 
GYS1 | Glycogenin-1 | Glycogen synthase | Polyglucosan body | Muscle glycogenosis | RBCK1 | GYG1 | PGM1 | Phosphoglucomutase | MRI | POLYGLUCOSAN BODY MYOPATHY | MUSCLE | CLINICAL NEUROLOGY | Glycogen Storage Disease - pathology | Muscle, Skeletal - pathology | Glycogen Storage Disease - genetics | Glycogen Storage Disease - therapy | Humans
Journal Article