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Items: 1 to 20 of 105

1.

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
2.

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
3.

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

Kaneko K, Kuroda H, Izumi R, Tateyama M, Kato M, Sugimura K, Sakata Y, Ikeda Y, Hirano K, Aoki M.

Neuromuscul Disord. 2014 Jul;24(7):634-41. doi: 10.1016/j.nmd.2014.04.001. Epub 2014 Apr 21. Review.

PMID:
24836204
4.

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
5.

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Akiyama M, Sakai K, Ogawa M, McMillan JR, Sawamura D, Shimizu H.

Muscle Nerve. 2007 Dec;36(6):856-9.

PMID:
17657808
7.

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.

Missaglia S, Tasca E, Angelini C, Moro L, Tavian D.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):110-7. doi: 10.1016/j.ymgme.2015.05.001. Epub 2015 May 2.

8.

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.

Campagna F, Nanni L, Quagliarini F, Pennisi E, Michailidis C, Pierelli F, Bruno C, Casali C, DiMauro S, Arca M.

Biochem Biophys Res Commun. 2008 Dec 19;377(3):843-6. doi: 10.1016/j.bbrc.2008.10.081. Epub 2008 Oct 24.

PMID:
18952067
9.

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.

10.

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E.

Eur J Hum Genet. 2013 Aug;21(8):807-15. doi: 10.1038/ejhg.2012.256. Epub 2012 Dec 12. Erratum in: Eur J Hum Genet. 2013 Aug;21(8):892.

11.

A myopathy with unusual features caused by PNPLA2 gene mutations.

Pennisi EM, Missaglia S, Dimauro S, Bernardi C, Akman HO, Tavian D.

Muscle Nerve. 2015 Apr;51(4):609-13. doi: 10.1002/mus.24477. Epub 2015 Feb 28.

PMID:
25287355
12.

PNPLA2 mutation: a paediatric case with early onset but indolent course.

Perrin L, Féasson L, Furby A, Laforêt P, Petit FM, Gautheron V, Chabrier S.

Neuromuscul Disord. 2013 Dec;23(12):986-91. doi: 10.1016/j.nmd.2013.08.008. Epub 2013 Aug 30.

PMID:
24074500
13.

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R.

Nat Genet. 2007 Jan;39(1):28-30. Epub 2006 Dec 24.

PMID:
17187067
14.

Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.

van de Weijer T, Havekes B, Bilet L, Hoeks J, Sparks L, Bosma M, Paglialunga S, Jorgensen J, Janssen MC, Schaart G, Sauerwein H, Smeets JL, Wildberger J, Zechner R, Schrauwen-Hinderling VB, Hesselink MK, Schrauwen P.

Circ Res. 2013 Mar 1;112(5):e51-4. doi: 10.1161/CIRCRESAHA.113.300944. No abstract available.

15.

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.

Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R.

Am J Physiol Endocrinol Metab. 2009 Aug;297(2):E289-96. doi: 10.1152/ajpendo.00099.2009. Epub 2009 Apr 28. Review.

16.

Clinical and genetic analysis of lipid storage myopathies.

Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I.

Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167.

PMID:
19208393
17.

Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A.

Xu C, Zhao Y, Liu J, Zhang W, Wang Z, Yuan Y.

Muscle Nerve. 2015 Jun;51(6):922-7. doi: 10.1002/mus.24507. Epub 2015 Apr 24.

PMID:
25363365
18.

Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy.

Natali A, Gastaldelli A, Camastra S, Baldi S, Quagliarini F, Minicocci I, Bruno C, Pennisi E, Arca M.

J Clin Endocrinol Metab. 2013 Sep;98(9):E1540-8. doi: 10.1210/jc.2013-1444. Epub 2013 Jul 3.

PMID:
23824421
19.

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

Tavian D, Missaglia S, Redaelli C, Pennisi EM, Invernici G, Wessalowski R, Maiwald R, Arca M, Coleman RA.

Hum Mol Genet. 2012 Dec 15;21(24):5318-28. doi: 10.1093/hmg/dds388. Epub 2012 Sep 17.

20.

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
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