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humans (75) 75
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ichthyosis - genetics (6) 6
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International Journal of Molecular Sciences, ISSN 1661-6596, 11/2016, Volume 17, Issue 11, pp. 1952 - 1952
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 426 - 438
ABSTRACT Calcium (Ca2+) is a physiological key factor, and the precise modulation of free cytosolic Ca2+ levels regulates multiple cellular functions.... 
SOCE | ORAI1 | calcium | STIM1 | Stormorken syndrome | tubular aggregate myopathy | CA2+ ENTRY | PROTEIN | CONSTITUTIVE ACTIVATION | DEFICIENCY | OPERATED CALCIUM-CHANNEL | REGION | ORIGIN | GENETICS & HEREDITY | INTERACTION MOLECULE-1 STIM1 | CRAC CHANNEL | IMMUNODEFICIENCY | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal - metabolism | Mutation, Missense | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Miosis - genetics | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | ORAI1 Protein - genetics | Cells, Cultured | Spleen - abnormalities | Dyslexia - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Stromal Interaction Molecule 1 - metabolism | Animals | Ion Channel Gating - genetics | Microscopy, Fluorescence - methods | Migraine Disorders - genetics | Spleen - metabolism | Pedigree | Muscle Fatigue - genetics | Miosis - metabolism | Myopathies, Structural, Congenital - metabolism | Blood Platelet Disorders - metabolism | Muscles | Medicine, Experimental | Medical research | Genetic aspects | Permeability | Homeostasis | Mutation
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1761 - 1773
Journal Article
Journal of Neurology, ISSN 0340-5354, 8/2017, Volume 264, Issue 8, pp. 1791 - 1803
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a... 
Neurology | Neurosciences | Medicine & Public Health | GFPT1 | Tubular aggregates | Neuromuscular junction | Neuroradiology | Limb-girdle myasthenia | Myopathy | DPAGT1 | TRANSPORTER | CLINICAL-FEATURES | IDENTIFICATION | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | GENE | STIM1 | GFPT1 MUTATIONS | EXPRESSION | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Muscle, Skeletal - innervation | Myopathies, Structural, Congenital - genetics | Young Adult | Myopathies, Structural, Congenital - drug therapy | Myasthenic Syndromes, Congenital - pathology | Adult | Female | Retrospective Studies | Neuromuscular Junction - enzymology | Neuromuscular Junction - pathology | Myasthenic Syndromes, Congenital - enzymology | Myasthenic Syndromes, Congenital - genetics | Muscle, Skeletal - enzymology | Myopathies, Structural, Congenital - enzymology | Glycosylation | Myasthenic Syndromes, Congenital - drug therapy | Adolescent | Myopathies, Structural, Congenital - pathology | Aged | Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) - genetics | Muscle, Skeletal - pathology | Complications and side effects | Myasthenia gravis | Gene mutations | Physiological aspects | Muscle diseases | Genetic aspects | Research | Risk factors | Fructose-6-phosphate | Congenital defects | Transaminase | Tubules | Fructose | Skeletal muscle | Membrane proteins | Proteins | Etiology | Biopsy | Neuromuscular junctions | Reinnervation | Myasthenia | Mutation | Denervation | Glutamine | Life Sciences | Neurons and Cognition | Neurobiology
Journal Article
12/2010
Tubular aggregates (TAs) are inclusions described in skeletal muscle in a variety of disorders. In a retrospective analysis, TAs were found in 18 (0.24%) cases... 
periodic paralysis | noncompressive myelopathy | familial dementia | myalgia | Cramps | tubular aggregates | lower motor neuron syndrome | ultrastructure | limb girdle myasthenia
Web Resource
Neurology India, ISSN 0028-3886, 09/2010, Volume 58, Issue 5, pp. 747 - 751
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2008, Volume 13, Issue 4, pp. 373 - 375
Journal Article
Canadian Journal of Ophthalmology, ISSN 0008-4182, 2008, Volume 43, Issue 3, pp. 361 - 363
Abstract Case report: We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. Comments: Bilateral, asymmetric retinal... 
Internal Medicine | Ophthalmology | retinal degeneration | tubular aggregate myopathy
Journal Article
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 02/2017, Volume 43, Issue 1, pp. 5 - 23
Journal Article