Search Results - "Joshi, P.R."
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T.P.29
Published in Neuromuscular disorders : NMD (01-10-2014)“…McArdle’s disease is characterized by deficiency of enzyme myophosphorylase that disrupts the mechanism of glycogen breakdown in skeletal muscle. In McArdle…”
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P39. Assigning pathogenicity to three novel mt-tRNA mutations associated with different mitochondrial disease presentations
Published in Clinical neurophysiology (01-08-2015)“…Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations associated with human disease. Assigning pathogenicity to…”
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P.17.14 Myohistological mitochondrial changes in patients with mtDNA singular deletions, multiple deletions and A3243G point mutation
Published in Neuromuscular disorders : NMD (01-10-2013)“…Chronic progredient external opthalmoplegia (CPEO) and the MELAS syndrome are the most common disorders that are associated with mitochondrial changes. CPEO is…”
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Biological treatment of waste gas containing mixture of monochlorobenzene (MCB) and benzene in a bench scale biofilter
Published in Bioresource technology (01-07-2010)“…The paper outlines treatment of waste gas containing monochlorobenzene (MCB) and benzene in a mixture using biofilter packed with compost and woodchips seeded…”
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P4.55 Molecular genetic analysis in 45 patients with muscle carnitine palmitoyltransferase (CPT) II deficiency
Published in Neuromuscular disorders : NMD (01-10-2010)Get full text
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G.P.16.07. Biochemical and molecular genetic identification of patients with phosphoglycerate mutase deficiency
Published in Neuromuscular disorders : NMD (01-10-2008)Get full text
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G.P.16.10 Analysis of mtDNA deletions in patients with different forms of idiopathic myositis
Published in Neuromuscular disorders : NMD (01-09-2009)Get full text
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T.P.29: Role of AMP deaminase and adenylate kinase in production of ammonia in skeletal muscle of patients with McArdle’s disease
Published in Neuromuscular disorders : NMD (01-10-2014)“…McArdle’s disease is characterized by deficiency of enzyme myophosphorylase that disrupts the mechanism of glycogen breakdown in skeletal muscle. In McArdle…”
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Various culture techniques for the mass propagation of medicinal orchids from Nepal
Published in Acta horticulturae (01-01-2019)Get full text
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Muskeldystrophie infolge Anoctamin-5-Mutationen: Klinische und molekulargenetische Befunde
Published in Nervenarzt (01-12-2011)“…Zusammenfassung Rezessive Mutationen im Anoctamin-5 ( ANO5 )-Gen wurden vor kurzem bei Patienten mit Gliedergürtelmuskeldystrophie (LGMD Typ 2L) und bei…”
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A vertical flow chamber for Xenopus oocyte electrophysiology and automated drug screening
Published in Journal of neuroscience methods (15-01-2004)“…Xenopus laevis oocytes are used extensively in the study of ion channel coupled receptors. Efficient use of oocytes for ion channel characterization requires a…”
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