Joshi PR - Search Results

1

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Böhm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Pénisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J. Böhm J, et al. Among authors: joshi pr. J Med Genet. 2014 Dec;51(12):824-33. doi: 10.1136/jmedgenet-2014-102623. Epub 2014 Oct 17. J Med Genet. 2014. PMID: 25326555

2

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Deschauer M, Morgenroth A, Joshi PR, Gläser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Deschauer M, et al. Among authors: joshi pr. J Neurol. 2007 Jun;254(6):797-802. doi: 10.1007/s00415-006-0447-x. Epub 2007 Apr 3. J Neurol. 2007. PMID: 17404776

3

Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset.

Joshi PR, Knape M, Zierz S, Deschauer M. Joshi PR, et al. Acta Neuropathol. 2009 Jun;117(6):723-5. doi: 10.1007/s00401-009-0524-1. Epub 2009 Mar 26. Acta Neuropathol. 2009. PMID: 19322572 No abstract available.

4

[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

Deschauer M, Joshi PR, Gläser D, Hanisch F, Stoltenburg G, Zierz S. Deschauer M, et al. Among authors: joshi pr. Nervenarzt. 2011 Dec;82(12):1596-603. doi: 10.1007/s00115-011-3325-4. Nervenarzt. 2011. PMID: 21739273 German.

5

Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.

Joshi PR, Deschauer M, Zierz S. Joshi PR, et al. Wien Klin Wochenschr. 2012 Dec;124(23-24):851-4. doi: 10.1007/s00508-012-0296-9. Epub 2012 Nov 27. Wien Klin Wochenschr. 2012. PMID: 23184072

6

Expanding mutation spectrum in CPT II gene: identification of four novel mutations.

Joshi PR, Young P, Deschauer M, Zierz S. Joshi PR, et al. J Neurol. 2013 May;260(5):1412-4. doi: 10.1007/s00415-013-6887-1. Epub 2013 Mar 9. J Neurol. 2013. PMID: 23475205 No abstract available.

7

Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping.

Joshi PR, Gläser D, Dreßel C, Kress W, Weis J, Deschauer M. Joshi PR, et al. Neuromuscul Disord. 2014 Jan;24(1):43-7. doi: 10.1016/j.nmd.2013.09.003. Epub 2013 Sep 10. Neuromuscul Disord. 2014. PMID: 24239059

8

Mitochondrial abnormalities in myofibrillar myopathies.

Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F. Joshi PR, et al. Clin Neuropathol. 2014 Mar-Apr;33(2):134-42. doi: 10.5414/NP300693. Clin Neuropathol. 2014. PMID: 24361111

9

Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.

Joshi PR, Deschauer M, Zierz S. Joshi PR, et al. J Neurol Sci. 2014 Mar 15;338(1-2):107-11. doi: 10.1016/j.jns.2013.12.026. Epub 2013 Dec 23. J Neurol Sci. 2014. PMID: 24398345

10

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M. Lehmann D, et al. Among authors: joshi pr. Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25447692 Free PMC article.

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