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1. Full Text Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy
by Nogalska, Anna and D’Agostino, Carla and Engel, W. King and Cacciottolo, Mafalda and Asada, Shinichi and Mori, Kazutoshi and Askanas, Valerie
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 6/2015, Volume 74, Issue 6, pp. 538 - 546
Muscle fibers in patients with sporadic inclusion-body myositis (s-IBM),the most common age-associated myopathy, are characterized by autophagic vacuoles and... 
Cultured human muscle fibers | Sporadic inclusion-body myositis | Hereditary inclusion-body myopathy | UDP- N -acetylglucosamine-2-epimerase/ N -acetylmannosamine kinase | Endoplasmic reticulum stress | GNE | Unfolded protein response | ALZHEIMERS-DISEASE | RIMMED VACUOLES | UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase | ENDOPLASMIC-RETICULUM STRESS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | CULTURED HUMAN MUSCLE | FIBERS | DISTAL MYOPATHY | RELEVANCE | BETA-APP | PRECURSOR PROTEIN | EXPRESSION | Cadherins - metabolism | Humans | Middle Aged | Male | Muscle, Skeletal - metabolism | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | RNA, Messenger - metabolism | DNA-Binding Proteins - metabolism | Distal Myopathies - physiopathology | Myositis, Inclusion Body - pathology | Female | Unfolded Protein Response - genetics | Myositis, Inclusion Body - physiopathology | Distal Myopathies - pathology | Heat-Shock Proteins - metabolism | Cells, Cultured | Enzyme Inhibitors - pharmacology | Multienzyme Complexes - genetics | Mutation - genetics | Regulatory Factor X Transcription Factors | Transcription Factors - metabolism | Activating Transcription Factor 6 - metabolism | Distal Myopathies - genetics | Activating Transcription Factor 4 - metabolism | Aged | Muscle, Skeletal - pathology | Unfolded Protein Response - physiology | N-acetylmannosamine kinase | UDP-N-acetylglucosamine-2-epimerase
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2. Full Text Identification of the CFTR c.1666A > G mutation in hereditary inclusion body myopathy using next-generation sequencing analysis
by Lu, Yan and Da, Yu-Wei and Zhang, Yong-Biao and Li, Xin-Gang and Wang, Min and Di, Li and Pang, Mi and Lei, Lin
Frontiers in Neuroscience, ISSN 1662-4548, 05/2018, Volume 12, Issue MAY, p. 329
Hereditary inclusion body myopathy (HIBM) is a rare autosomal recessive adult onset muscle disease which affects one to three individuals per million... 
Next-generation sequencing | Hereditary inclusion body myopathy | Mutation | Whole-exome sequencing | CFTR | VALOSIN-CONTAINING PROTEIN | next-generation sequencing | AUTOSOMAL-DOMINANT MYOPATHY | RIMMED VACUOLES | hereditary inclusion body myopathy | NEUROSCIENCES | FAMILY | mutation | DISTAL MYOPATHY | GENE | DISEASE | whole-exome sequencing | Cystic fibrosis | Genetic aspects | Muscle diseases | Research | Gene expression | Disease | Linkage disequilibrium | Genomes | Muscular dystrophy | Proteins | Genotype & phenotype | Animal breeding | Bioinformatics | Deoxyribonucleic acid--DNA | Linkage analysis | Phenotypes | Neuromuscular diseases | Susceptibility | Chromosome 7 | Skeletal muscle | Neurology | Hospitals | Pedigree | Software | Dystrophy | Genetic testing | Myopathy | Dementia
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3. Full Text Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
by Watts and Thomasova and Ramdeen and Fulchiero and Mehta and Drachman and Weihl and Jamrozik and Kwiecinski and Kaminska and Kimonis
Clinical Genetics, ISSN 0009-9163, 11/2007, Volume 72, Issue 5, pp. 420 - 426
Watts GDJ, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Novel VCP mutations in... 
chromosome 9p13.3-12 | frontotemporal dementia | Paget disease of bone | hereditary inclusion body myopathy | limb-girdle muscular dystrophy | Valosin-containing protein | Valosin‐containing protein | chromosome 9p13.3‐12 | limb‐girdle muscular dystrophy | Hereditary inclusion body myopathy | Frontotemporal dementia | Limb-girdle muscular dystrophy | Chromosome 9p13.3-12 | GENE-MUTATIONS | VALOSIN-CONTAINING-PROTEIN | GENETICS & HEREDITY | AAA-ATPASE P97 | Humans | Middle Aged | Valosin Containing Protein | Models, Molecular | Male | Dementia - genetics | Myositis, Inclusion Body - genetics | Osteitis Deformans - genetics | Osteitis Deformans - complications | Dementia - complications | DNA Mutational Analysis | Pedigree | Myositis, Inclusion Body - complications | Cell Cycle Proteins - genetics | Adult | Female | Adenosine Triphosphatases - genetics | Mutation | Case studies | Neurosciences | Genetic disorders | Bone diseases | Muscular system | Dementia
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4. Full Text Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
by Lu, Yan and Da, Yu-Wei and Zhang, Yong-Biao and Li, Xin-Gang and Wang, Min and Di, Li and Pang, Mi and Lei, Lin
Frontiers in neuroscience, ISSN 1662-4548, 2018, Volume 12, p. 570
[This corrects the article DOI: 10.3389/fnins.2018.00329.]. 
Conflicts of interest | Adults | Next-generation sequencing | Myopathy | mutation | hereditary inclusion body myopathy | next-generation sequencing | whole-exome sequencing | CFTR
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5. Full Text The Hereditary Inclusion Body Myopathy Enigma and its Future Therapy
by Argov, Zohar and Mitrani-Rosenbaum, Stella
Neurotherapeutics, ISSN 1933-7213, 2008, Volume 5, Issue 4, pp. 633 - 637
Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP- -acetylglucosamine 2... 
Hereditary inclusion body myopathy | GNE gene | sialic acid | distal myopathy | Neurology | Neurosciences | Biomedicine | Neurobiology | Neurosurgery | CELLS | RIMMED VACUOLES | SIALYLATION | hereditary inclusion body myopathy | NEUROSCIENCES | ENZYME | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | BIOSYNTHESIS | MUTATION | PHARMACOLOGY & PHARMACY | N-ACETYLNEURAMINIC ACID | GNE | Myositis, Inclusion Body - diagnosis | Animals | Humans | Myositis, Inclusion Body - therapy | Myositis, Inclusion Body - pathology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Myositis, Inclusion Body - genetics | Carbohydrate Epimerases - genetics | Carbohydrate Epimerases - metabolism | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Enzymes | Organic acids | Review
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6. Full Text Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis
by Kazamel, Mohamed and Sorenson, Eric J and Milone, Margherita
Journal of Clinical Neuromuscular Disease, ISSN 1522-0443, 06/2016, Volume 17, Issue 4, pp. 190 - 196
OBJECTIVE:To compare the clinical and electrophysiological findings in hereditary inclusion body myopathy (hIBM) and sporadic inclusion body myositis (sIBM)... 
valosin-containing protein | VCP | hereditary inclusion body myopathy | hIBM | vacuolarmyopathy | GNE | Myositis, Inclusion Body - physiopathology | Distal Myopathies - pathology | Humans | Middle Aged | Symptom Assessment | Male | Delayed Diagnosis | Electrodiagnosis | Myotonia - pathology | Myositis, Inclusion Body - diagnosis | Distal Myopathies - diagnosis | Distal Myopathies - physiopathology | Muscle, Skeletal - physiopathology | Age of Onset | Myositis, Inclusion Body - pathology | Adult | Female | Aged | Electromyography | Retrospective Studies | Muscle, Skeletal - pathology | Myotonia - physiopathology
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7. Full Text Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: A case report
by Panagiotopoulou, Ioanna G and Miller, Richard and Powar, Michael P and Chan, James Y H and Davies, R Justin
Journal of Medical Case Reports, ISSN 1752-1947, 10/2018, Volume 12, Issue 1, pp. 315 - 4
Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are... 
Hereditary internal anal sphincter myopathy | Polyglucosan inclusion bodies | Proctalgia | Pain - surgery | Humans | Middle Aged | Treatment Outcome | Constipation - etiology | Anal Canal - abnormalities | Muscular Diseases - diagnosis | Lateral Internal Sphincterotomy | Muscular Diseases - surgery | Muscular Diseases - physiopathology | Pain - physiopathology | Glucans | Anal Canal - physiopathology | Anal Canal - surgery | Muscular Diseases - complications | Female | Care and treatment | Usage | Anus | Abnormalities | Anorectal disorders | Research | Endoscopy | Constipation | Psychological aspects | Ultrasonic imaging | Nuclear magnetic resonance--NMR | Pain | Biopsy | Gastroenterology | Smooth muscle | Histology | Colon | Botulinum toxin
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8. Full Text No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation
by Salama, Ilan and Hinderlich, Stephan and Shlomai, Zipora and Eisenberg, Iris and Krause, Sabine and Yarema, Kevin and Argov, Zohar and Lochmuller, Hanns and Reutter, Werner and Dabby, Ron and Sadeh, Menachem and Ben-Bassat, Hannah and Mitrani-Rosenbaum, Stella
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 2005, Volume 328, Issue 1, pp. 221 - 226
Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult-onset, slowly progressive distal and proximal... 
Muscle cells | UDP- N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase | Sialic acid | Hereditary inclusion body myopathy | Sialylation | GNE | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase | RIMMED VACUOLES | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL-SURFACE | hereditary inclusion body myopathy | muscle cells | sialylation | DISTAL MYOPATHY | BIOPHYSICS | GENE | sialic acid | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | BIOSYNTHESIS | QUADRICEPS | EPIMERASE | EXPRESSION | Myositis, Inclusion Body - enzymology | Myoblasts - metabolism | Humans | Cells, Cultured | Metabolism, Inborn Errors - metabolism | Multienzyme Complexes - metabolism | Cell Membrane - metabolism | Multienzyme Complexes - genetics | Mutation | Myositis, Inclusion Body - genetics | Metabolism, Inborn Errors - genetics | N-Acetylneuraminic Acid - metabolism
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9. Full Text Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events
by Amsili, S and Shlomai, Z and Levitzki, R and Krause, S and Lochmuller, H and Ben-Bassat, H and Mitrani-Rosenbaum, S
Cell Death and Differentiation, ISSN 1350-9047, 11/2007, Volume 14, Issue 11, pp. 1916 - 1924
Hereditary inclusion body myopathy (HIBM) is a unique muscular disorder caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine... 
LIFE-SPAN | RIMMED VACUOLES | BIOCHEMISTRY & MOLECULAR BIOLOGY | apoptosis | Akt | hereditary inclusion body myopathy | HIBM | CELL BIOLOGY | INSULIN | SKELETAL-MUSCLE | muscle satellite cells | DISTAL MYOPATHY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | DIFFERENTIATION | HUNTINGTONS-DISEASE | CELL | MYOTONIC-DYSTROPHY | GNE | Cell Proliferation | Signal Transduction | Humans | Middle Aged | Cells, Cultured | Multienzyme Complexes - metabolism | Male | Multienzyme Complexes - genetics | Myoblasts - pathology | Myositis, Inclusion Body - genetics | Myoblasts - metabolism | Caspases - metabolism | Desmin - isolation & purification | Cellular Senescence | Desmin - metabolism | Myositis, Inclusion Body - pathology | Adult | Female | Myositis, Inclusion Body - metabolism | Cell Differentiation | Proto-Oncogene Proteins c-akt - metabolism | Apoptosis | Mitogen-Activated Protein Kinases - metabolism
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10. Full Text Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps
by Eisenberg, Iris and Grabov‐Nardini, Gil and Hochner, Hagit and Korner, Mira and Sadeh, Menachem and Bertorini, Tulio and Bushby, Kate and Castellan, Claudio and Felice, Kevin and Mendell, Jerry and Merlini, Luciano and Shilling, Christopher and Wirguin, Itshak and Argov, Zohar and Mitrani‐Rosenbaum, Stella
Human Mutation, ISSN 1059-7794, 01/2003, Volume 21, Issue 1, pp. 99 - 99
Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have... 
UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase | mutation analysis | neuromuscular disorders | Nonaka myopathy | hereditary inclusion body myopathy | HIBM | GNE | Myositis, Inclusion Body - ethnology | Myositis, Inclusion Body - diagnosis | Escherichia coli Proteins | DNA Mutational Analysis | Humans | Middle Aged | Adolescent | Adult | Phosphotransferases (Alcohol Group Acceptor) - genetics | Mutation | Myositis, Inclusion Body - genetics | Carbohydrate Epimerases - genetics
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11. Full Text Hereditary inclusion‐body myopathy: Clues on pathogenesis and possible therapy
by Broccolini, Aldobrando and Gidaro, Teresa and Morosetti, Roberta and Mirabella, Massimiliano
Muscle & Nerve, ISSN 0148-639X, 09/2009, Volume 40, Issue 3, pp. 340 - 349
Hereditary inclusion‐body myopathy (h‐IBM), or distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with onset in early adult life... 
h‐IBM | hereditary inclusion‐body myopathy | distal myopathy with rimmed vacuoles | DMRV | GNE | h-IBM | Hereditary inclusion-body myopathy | Distal myopathy with rimmed vacuoles | UDP-N-ACETYLGLUCOSAMINE-2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | RIMMED VACUOLES | PRECURSOR PROTEIN GENE | GNE GENE | NEUROSCIENCES | CLINICAL NEUROLOGY | DISTAL MYOPATHY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | SIALIC-ACID BIOSYNTHESIS | hereditary inclusion-body myopathy | MITOCHONDRIAL-DNA DELETIONS | HUMAN MUSCLE | N-ACETYLNEURAMINIC ACID | Distal Myopathies - therapy | Vacuoles - genetics | Chondroitin Sulfate Proteoglycans - genetics | Distal Myopathies - etiology | Distal Myopathies - pathology | Humans | Chondroitin Sulfate Proteoglycans - metabolism | Muscle, Skeletal - metabolism | Lectins, C-Type - genetics | N-Acetylneuraminic Acid - metabolism | Nerve Tissue Proteins - genetics | Vacuoles - pathology | Nerve Tissue Proteins - metabolism | Lectins, C-Type - metabolism | Inclusion Bodies - genetics | Animals | Models, Biological | N-Acetylneuraminic Acid - genetics | Inclusion Bodies - pathology | Muscle, Skeletal - pathology
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12. Full Text Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion‐body myopathy muscle
by Broccolini, Aldobrando and Gidaro, Teresa and De Cristofaro, Raimondo and Morosetti, Roberta and Gliubizzi, Carla and Ricci, Enzo and Tonali, Pietro A and Mirabella, Massimiliano
Journal of Neurochemistry, ISSN 0022-3042, 05/2008, Volume 105, Issue 3, pp. 971 - 981
Autosomal recessive hereditary inclusion‐body myopathy (h‐IBM) is caused by mutations of the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase... 
neprilysin | UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase | hereditary inclusion‐body myopathy | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase | Hereditary inclusion-body myopathy | Neprilysin | NEUTRAL ENDOPEPTIDASE-24.11 ENKEPHALINASE | RIMMED VACUOLES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GLYCOPROTEINS | NEUROSCIENCES | kinase | DISTAL MYOPATHY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | PURIFICATION | MUTATION | A-BETA | PLAQUE-FORMATION | hereditary inclusion-body myopathy | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine | BRAIN | Muscle, Skeletal - enzymology | Genes, Recessive - genetics | Myositis, Inclusion Body - physiopathology | Amyloid beta-Peptides - biosynthesis | Humans | Cells, Cultured | Male | Glycosylation | Muscle Fibers, Skeletal - metabolism | Neprilysin - metabolism | Down-Regulation - drug effects | Myositis, Inclusion Body - genetics | N-Acetylneuraminic Acid - metabolism | Down-Regulation - physiology | Myositis, Inclusion Body - enzymology | Chromosome Disorders - enzymology | Muscle, Skeletal - physiopathology | Muscle Fibers, Skeletal - pathology | Neuraminidase - chemistry | Adult | Female | Chromosome Disorders - physiopathology | Chromosome Disorders - genetics | Muscle Fibers, Skeletal - enzymology | Genetic research | Enzymes | Cholera toxin | Sialic acids | Neurology | Biochemistry | Genetic disorders | Mutation | Gene expression | Rodents
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13. Full Text Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia
by Peyer, Anne-Kathrin and Kinter, Jochen and Hench, Jürgen and Frank, Stephan and Fuhr, Peter and Thomann, Sandra and Fischmann, Arne and Kneifel, Stefan and Camaño, Pilar and Munain, Adolfo López de and Sinnreich, Michael and Renaud, Susanne
Neuromuscular Disorders, ISSN 0960-8966, 2012, Volume 23, Issue 2, pp. 149 - 154
Abstract Inclusion body myopathy associated with Paget’s disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant... 
Neurology | Paget’s disease of the bone | Valosin containing protein | Hereditary inclusion body myopathy | Frontotemporal dementia | Paget's disease of the bone | GENE | VCP MUTATIONS | PATIENT | BONE | NEUROSCIENCES | PAGET-DISEASE | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Muscular Dystrophies, Limb-Girdle - ethnology | Humans | Middle Aged | Valosin Containing Protein | Male | Mutation - genetics | Myositis, Inclusion Body - genetics | Switzerland | Osteitis Deformans - genetics | Myositis, Inclusion Body - ethnology | Osteitis Deformans - pathology | Biopsy | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Frontotemporal Dementia - ethnology | Cell Cycle Proteins - genetics | Myositis, Inclusion Body - pathology | Female | Adenosine Triphosphatases - genetics | Osteitis Deformans - ethnology | Muscle, Skeletal - pathology | Muscular Dystrophies, Limb-Girdle - pathology | Frontotemporal Dementia - pathology | Neurosciences | Lubrication and lubricants | Genetic aspects
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14. Full Text Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature
by Das, Biplab and Goyal, Manoj Kumar and Bhatkar, Sanat Ramchandra and Vinny, Pulikottil Wilson and Modi, Manish and Lal, Vivek and Gayathri, N and Mahadevan, Anitha and Radotra, Bishan Dass
Annals of Indian Academy of Neurology, ISSN 0972-2327, 01/2016, Volume 19, Issue 1, pp. 119 - 122
Background: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total... 
Hereditary inclusion body myopathy (HIBM) | rimmed vacuoles | myopathy | sialic acid | CELLS | IRANIAN JEWS | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | DISTAL MYOPATHIES | SIALIC ACIDS | MYOSITIS | CLINICAL NEUROLOGY | GNE | Muscle diseases | Genetic aspects | Gene mutations | Analysis | Risk factors | Weightlifting | Enzymes | Histopathology | Wheelchairs | Biopsy | Topography | Bladder | Family medical history | Kinases | Patients | Short Communication
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