Malicdan MC - Search Results

1

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.

Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I. Noguchi S, et al. Among authors: malicdan mc. Mol Ther Nucleic Acids. 2014 Jun 24;3(6):e171. doi: 10.1038/mtna.2014.22. Mol Ther Nucleic Acids. 2014. PMID: 24959844 Free PMC article.

2

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I. Malicdan MC, et al. Neuromuscul Disord. 2008 Jul;18(7):521-9. doi: 10.1016/j.nmd.2008.04.010. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18502640 Review.

3

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles.

Anada RP, Wong KT, Malicdan MC, Goh KJ, Hayashi Y, Nishino I, Noguchi S. Anada RP, et al. Among authors: malicdan mc. Amyloid. 2014 Jun;21(2):138-9. doi: 10.3109/13506129.2014.889675. Epub 2014 Mar 7. Amyloid. 2014. PMID: 24601867 No abstract available.

4

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.

Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I. Noguchi S, et al. Among authors: malicdan mc. EBioMedicine. 2017 Feb;15:193-202. doi: 10.1016/j.ebiom.2016.12.011. Epub 2016 Dec 23. EBioMedicine. 2017. PMID: 28043812 Free PMC article.

5

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC. Leoyklang P, et al. Among authors: malicdan mc. Muscle Nerve. 2018 Aug;58(2):286-292. doi: 10.1002/mus.26135. Epub 2018 Apr 23. Muscle Nerve. 2018. PMID: 29603301 Free PMC article.

6

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.

Ates KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA. Ates KM, et al. Among authors: malicdan mc. Dis Model Mech. 2020 May 26;13(5):dmm041913. doi: 10.1242/dmm.041913. Dis Model Mech. 2020. PMID: 32152089 Free PMC article.

7

[No title available]

[No authors listed] [No authors listed] PMID: 34005078

8

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N. Xu X, et al. Among authors: malicdan mc. Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26. Mol Genet Metab. 2017. PMID: 28641925 Free PMC article. Clinical Trial.

9

Chediak-Higashi syndrome.

Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Review.

10

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. Nesterova G, et al. Among authors: malicdan mc. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4. Clin J Am Soc Nephrol. 2013. PMID: 23293122 Free PMC article.

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