Keywords: سیلیدوز; WES; Whole exome sequencing; Sialidosis; Ataxia; Myoclonus; Neurodeaminiase; NEU1;
مقالات ISI سیلیدوز (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سیلیدوز; Progressive myoclonic epilepsy; Sialidosis; Perampanel; NEU1 gene;
Keywords: سیلیدوز; Mucopolisacaridosis; Rigidez articular; Retraso del crecimiento; Disostosis múltiple; Densidad mineral ósea; Oligosacaridosis; Galactosidosis; Manosidosis; Fucosidosis; Sialidosis; Galactosialidosis; Aspartilglucosaminuria;
Keywords: سیلیدوز; Hydrops fetalis; Sialidosis; Placental biopsy
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
Keywords: سیلیدوز; DNA; deoxyribonucleic acid; EEG; electroencephalography; Multigene panel next generation sequencing; Lysosomal storage disease; NEU1 gene; Sialidosis; c.699CÂ >Â A (p.S233R); c.803AÂ >Â G (p.Y268C);
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders
Keywords: سیلیدوز; Novel mutations; GM1 gangliosidosis; Sialidosis; Lysosomal storage disorder; GLB1; NEU1;
The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis
Keywords: سیلیدوز; Sialidosis; MG 132; Celastrol; Gangliosides; Lysosomal Storage Disorder; Enzyme enhancement treatment;
Characterization of severe action myoclonus in sialidoses
Keywords: سیلیدوز; Sialidosis; Unverricht-Lundborg disease; Progressive myoclonus epilepsy; Cortical rhythmic myoclonus; Spectral analysis; EEG-EMG coherence;
Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice
Keywords: سیلیدوز; Cochlea; Sialidosis; Hearing loss; Lysosomes; Endolymphatic potential
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue
Keywords: سیلیدوز; Neu1; neuraminidase 1; PPCA; protective protein/cathepsin A; Lamp-1; lysosomal-associated membrane protein-1; MMP; matrix metalloproteinase; TIMP; tissue inhibitors of metalloproteinases; PM; plasma membrane; SytVII; synaptotagmin VII; NEU1; Sialidosis; M
Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I
Keywords: سیلیدوز; Sialidosis; Transcranial magnetic stimulation; Myoclonus; Epilepsy; Reciprocal inhibition; Blink reflex
Quantification of free and total sialic acid excretion by LC–MS/MS
Keywords: سیلیدوز; Sialic acid; Salla disease; Sialuria; Sialidosis; Galactosialidosis; Hemolytic uremic syndromeFSA, free sialic acid; SA, sialic acid; CSA, conjugated sialic acid; TSA, total sialic acid; ISSD, infantile sialic storage disease; HUS, hemolytic uremic syndro
First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study
Keywords: سیلیدوز; Sialidosis; Visual failure; Myoclonic ataxia; NEU1; Ser182Gly mutation
Benign fibrous histiocytoma occurred in the alveolar mucosa accompanying with sialidosis type 2 in Japanese infant
Keywords: سیلیدوز; Gingival histiocytoma; Sialidosis; Cytoplasmic vacuole; Immunohistochemistry; Electronmicroscopy;
Short-term, high dose enzyme replacement therapy in sialidosis mice
Keywords: سیلیدوز; Sialidosis; Enzyme replacement therapy; Lysosomal neuraminidase; Protective protein/cathepsin A; Baculovirus expression system;
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides
Keywords: سیلیدوز; Lysosomal storage disorder; Oligosacchariduria; Electrospray ionization-tandem mass spectrometry; 1-Phenyl-3-methyl-5-pyrazolone; Pompe; α-Mannosidosis; GM1 gangliosidosis; GM2 gangliosidosis; Sandhoff; Tay-Sachs; Sialidosis; I-cell; Sialic acid storag