P39. Assigning pathogenicity to three novel mt-tRNA mutations associated with different mitochondrial disease presentations
Lehmann, D, Schubert, K, Joshi, P.R, Baty, K, Blakely, E.L, Hardy, S, Bamberg, C, Zierz, S, Taylor, R.W, Deschauer, M
Published in Clinical neurophysiology (01.08.2015)
Published in Clinical neurophysiology (01.08.2015)
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G.P.16.07. Biochemical and molecular genetic identification of patients with phosphoglycerate mutase deficiency
Joshi, P.R, Knape, M, Zierz, S, Deschauer, M
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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G.P.16.10 Analysis of mtDNA deletions in patients with different forms of idiopathic myositis
Joshi, P.R, Tacik, P, Nikolin, S, Weis, J, Deschauer, M, Zierz, S
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Muskeldystrophie infolge Anoctamin-5-Mutationen: Klinische und molekulargenetische Befunde
Deschauer, M., Joshi, P.R., Gläser, D., Hanisch, F., Stoltenburg, G., Zierz, S.
Published in Nervenarzt (01.12.2011)
Published in Nervenarzt (01.12.2011)
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A vertical flow chamber for Xenopus oocyte electrophysiology and automated drug screening
Joshi, P.R, Suryanarayanan, A, Schulte, M.K
Published in Journal of neuroscience methods (15.01.2004)
Published in Journal of neuroscience methods (15.01.2004)
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