Malicdan MC - Search Results

1

GNE myopathy: new name and new mutation nomenclature.

Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I. Huizing M, et al. Among authors: malicdan mc. Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13. Neuromuscul Disord. 2014. PMID: 24685570 Free PMC article. No abstract available.

2

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

Nishino I, Noguchi S, Murayama K, Ohkuma A, Kasahata N, Malicdan MC, Hayashi YK, Nonaka I. Nishino I, et al. Among authors: malicdan mc. Rinsho Shinkeigaku. 2005 Nov;45(11):943-5. Rinsho Shinkeigaku. 2005. PMID: 16447769 Review. Japanese.

3

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S. Nishino I, et al. Among authors: malicdan mc. Acta Myol. 2005 Oct;24(2):80-3. Acta Myol. 2005. PMID: 16550921 Review.

4

Central core disease is due to RYR1 mutations in more than 90% of patients.

Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Wu S, et al. Among authors: malicdan mc. Brain. 2006 Jun;129(Pt 6):1470-80. doi: 10.1093/brain/awl077. Epub 2006 Apr 18. Brain. 2006. PMID: 16621918

5

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I. Malicdan MC, et al. Hum Mol Genet. 2007 Jan 15;16(2):115-28. doi: 10.1093/hmg/ddl446. Epub 2006 Dec 12. Hum Mol Genet. 2007. Retraction in: Hum Mol Genet. 2007 Nov 1;16(21):2647. doi: 10.1093/hmg/ddm231 PMID: 17164266 Retracted.

6

Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Malicdan MC, Noguchi S, Nishino I. Malicdan MC, et al. Autophagy. 2007 Jul-Aug;3(4):396-8. doi: 10.4161/auto.4270. Epub 2007 Jul 12. Autophagy. 2007. PMID: 17471014

7

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I. Malicdan MC, et al. Hum Mol Genet. 2007 Nov 15;16(22):2669-82. doi: 10.1093/hmg/ddm220. Epub 2007 Aug 18. Hum Mol Genet. 2007. PMID: 17704511

8

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.

Malicdan MC, Noguchi S, Hayashi YK, Nishino I. Malicdan MC, et al. Physiol Genomics. 2008 Sep 17;35(1):106-15. doi: 10.1152/physiolgenomics.90219.2008. Epub 2008 Jul 15. Physiol Genomics. 2008. PMID: 18628337

9

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.

Kawahara G, Ogawa M, Okada M, Malicdan MC, Goto Y, Hayashi YK, Noguchi S, Nishino I. Kawahara G, et al. Among authors: malicdan mc. Muscle Nerve. 2008 Sep;38(3):1192-5. doi: 10.1002/mus.21030. Muscle Nerve. 2008. PMID: 18642359

10

Distal lipid storage myopathy due to PNPLA2 mutation.

Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: malicdan mc. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972

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