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Results: 1 to 20 of 33

Select item 231466291.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C.

Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9.

PMID:: 23146629; [PubMed - indexed for MEDLINE]

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Select item 229649122.

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.

Ash DB, Papadimitriou D, Hays AP, Dimauro S, Hirano M.

Arch Neurol. 2012 Sep;69(9):1190-2. doi: 10.1001/archneurol.2011.2600.

PMID:: 22964912; [PubMed - indexed for MEDLINE]

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Select item 228323863.

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

Lin P, Li W, Wen B, Zhao Y, Fenster DS, Wang Y, Gong Y, Yan C.

J Hum Genet. 2012 Oct;57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26.

PMID:: 22832386; [PubMed - indexed for MEDLINE]

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Select item 224911994.

Blocked muscle fat oxidation during exercise in neutral lipid storage disease.

Laforêt P, Ørngreen M, Preisler N, Andersen G, Vissing J.

Arch Neurol. 2012 Apr;69(4):530-3. doi: 10.1001/archneurol.2011.631.

PMID:: 22491199; [PubMed - indexed for MEDLINE]

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Select item 224285075.

The anesthetic management of a patient with Dorfman-Chanarin syndrome.

Beştaş A, Bolat E, Bayar MK, Erhan OL.

Middle East J Anesthesiol. 2011 Oct;21(3):437-40.

PMID:: 22428507; [PubMed - indexed for MEDLINE]

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Select item 223955246.

Carnitine deficiency.

Răşanu T, Mehedinţi-Hâncu M, Alexianu M, Mehedinţi T, Gheorghe E, Damian I.

Rom J Morphol Embryol. 2012;53(1):203-6.

PMID:: 22395524; [PubMed - indexed for MEDLINE]

Free Article

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Select item 223738377.

Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.

Aggarwal S, Maras JS, Alam S, Khanna R, Gupta SK, Ahuja A.

Eur J Med Genet. 2012 Mar;55(3):173-7. doi: 10.1016/j.ejmg.2012.01.013. Epub 2012 Feb 6.

PMID:: 22373837; [PubMed - indexed for MEDLINE]

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Select item 222453748.

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.

Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H.

Clin Res Hepatol Gastroenterol. 2012 Apr;36(2):e34-7. doi: 10.1016/j.clinre.2011.12.007. Epub 2012 Jan 13.

PMID:: 22245374; [PubMed - indexed for MEDLINE]

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Select item 219813529.

Beneficial effect of acitretin in Chanarin-Dorfman syndrome.

Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E.

Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10.

PMID:: 21981352; [PubMed - indexed for MEDLINE]

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Select item 2197905310.

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T.

Nature. 2011 Oct 5;478(7367):127-31. doi: 10.1038/nature10456.

PMID:: 21979053; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2182804711.

Reduced expression of adipose triglyceride lipase enhances tumor necrosis factor alpha-induced intercellular adhesion molecule-1 expression in human aortic endothelial cells via protein kinase C-dependent activation of nuclear factor-kappaB.

Inoue T, Kobayashi K, Inoguchi T, Sonoda N, Fujii M, Maeda Y, Fujimura Y, Miura D, Hirano K, Takayanagi R.

J Biol Chem. 2011 Sep 16;286(37):32045-53. doi: 10.1074/jbc.M111.285650. Epub 2011 Aug 2.

PMID:: 21828047; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2157504812.

Neutral lipid storage disease with unusual presentation: report of three cases.

Singh S, Sharma S, Agarwal S, Nangia A, Chander R, Varghese B.

Pediatr Dermatol. 2012 May-Jun;29(3):341-4. doi: 10.1111/j.1525-1470.2011.01429.x. Epub 2011 May 16.

PMID:: 21575048; [PubMed - indexed for MEDLINE]

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Select item 2154456713.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5.

PMID:: 21544567; [PubMed - indexed for MEDLINE]

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Select item 2131401814.

State of the art in muscle lipid diseases.

Liang WC, Nishino I.

Acta Myol. 2010 Oct;29(2):351-6. Review.

PMID:: 21314018; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2117030515.

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

Coassin S, Schweiger M, Kloss-Brandstätter A, Lamina C, Haun M, Erhart G, Paulweber B, Rahman Y, Olpin S, Wolinski H, Cornaciu I, Zechner R, Zimmermann R, Kronenberg F.

PLoS Genet. 2010 Dec 9;6(12):e1001239. doi: 10.1371/journal.pgen.1001239.

PMID:: 21170305; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2107383716.

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

Chen J, Hong D, Wang Z, Yuan Y.

Clin Neuropathol. 2010 Nov-Dec;29(6):351-6.

PMID:: 21073837; [PubMed - indexed for MEDLINE]

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Select item 2104629017.

Lipid storage myopathy.

Liang WC, Nishino I.

Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. Review.

PMID:: 21046290; [PubMed - indexed for MEDLINE]

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Select item 2104542218.

Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.

Mitra S, Samanta M, Sarkar M, Chatterjee S.

Indian J Pathol Microbiol. 2010 Oct-Dec;53(4):799-801. doi: 10.4103/0377-4929.72098.

PMID:: 21045422; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2069159019.

Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.

Laforêt P, Vianey-Saban C.

Neuromuscul Disord. 2010 Nov;20(11):693-700. doi: 10.1016/j.nmd.2010.06.018. Epub 2010 Aug 5. Review.

PMID:: 20691590; [PubMed - indexed for MEDLINE]

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Select item 2047126320.

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.

Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S.

Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14.

PMID:: 20471263; [PubMed - indexed for MEDLINE]

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6 free full-text articles in PubMed Central

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. [Nature. 2011]
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, et al. Nature. 2011 Oct 5; 478(7367):127-31. Epub 2011 Oct 5.
Reduced expression of adipose triglyceride lipase enhances tumor necrosis factor alpha-induced intercellular adhesion molecule-1 expression in human aortic endothelial cells via protein kinase C-dependent activation of nuclear factor-kappaB. [J Biol Chem. 2011]
Reduced expression of adipose triglyceride lipase enhances tumor necrosis factor alpha-induced intercellular adhesion molecule-1 expression in human aortic endothelial cells via protein kinase C-dependent activation of nuclear factor-kappaB.
Inoue T, Kobayashi K, Inoguchi T, Sonoda N, Fujii M, Maeda Y, Fujimura Y, Miura D, Hirano K, Takayanagi R. J Biol Chem. 2011 Sep 16; 286(37):32045-53. Epub 2011 Aug 2.
Review State of the art in muscle lipid diseases. [Acta Myol. 2010]
Review State of the art in muscle lipid diseases.
Liang WC, Nishino I. Acta Myol. 2010 Oct; 29(2):351-6.

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