184 related articles for article (PubMed ID: 25363365)
1. 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. PubMed ID: 25363365
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 24836204
[TBL] [Abstract][Full Text] [Related]
3. Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
Tan J; Yang H; Fan J; Fan Y; Xiao F
Clin Neurol Neurosurg; 2018 May; 168():102-107. PubMed ID: 29539587
[TBL] [Abstract][Full Text] [Related]
4. 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; 430(1):241-4. PubMed ID: 23146629
[TBL] [Abstract][Full Text] [Related]
5. Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Zhang W; Wen B; Lu J; Zhao Y; Hong D; Zhao Z; Zhang C; Luo Y; Qi X; Zhang Y; Song X; Zhao Y; Zhao C; Hu J; Yang H; Wang Z; Yan C; Yuan Y
Orphanet J Rare Dis; 2019 Oct; 14(1):234. PubMed ID: 31655616
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 23824421
[TBL] [Abstract][Full Text] [Related]
7. "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
Fu J; Zheng YM; Jin SQ; Yi JF; Liu XJ; Lyn H; Wang ZX; Zhang W; Xiao JX; Yuan Y
Chin Med J (Engl); 2016 Aug; 129(15):1811-6. PubMed ID: 27453230
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 17657808
[TBL] [Abstract][Full Text] [Related]
9. Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.
Laforêt P; Stojkovic T; Bassez G; Carlier PG; Clément K; Wahbi K; Petit FM; Eymard B; Carlier RY
Mol Genet Metab; 2013 Feb; 108(2):125-31. PubMed ID: 23333026
[TBL] [Abstract][Full Text] [Related]
10. Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.
Shahriyari H; Ramezani M; Nilipour Y; Okhovat AA; Kariminejad A; Aghaghazvini L; Fatehi F; Nafissi S
Neuromuscul Disord; 2024 Feb; 35():19-24. PubMed ID: 38194732
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 24074500
[TBL] [Abstract][Full Text] [Related]
12. Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Missaglia S; Maggi L; Mora M; Gibertini S; Blasevich F; Agostoni P; Moro L; Cassandrini D; Santorelli FM; Gerevini S; Tavian D
Neuromuscul Disord; 2017 May; 27(5):481-486. PubMed ID: 28258942
[TBL] [Abstract][Full Text] [Related]
13. Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
Liu XY; Jin M; Wang ZQ; Wang DN; He JJ; Lin MT; Fu HX; Wang N
Chin Med J (Engl); 2016 Jun; 129(12):1425-31. PubMed ID: 27270537
[TBL] [Abstract][Full Text] [Related]
14. Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.
Latimer CS; Schleit J; Reynolds A; Marshall DA; Podemski B; Wang LH; Gonzalez-Cuyar LF
Neuromuscul Disord; 2018 Jul; 28(7):606-609. PubMed ID: 29779757
[TBL] [Abstract][Full Text] [Related]
15. 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; 29(6):351-6. PubMed ID: 21073837
[TBL] [Abstract][Full Text] [Related]
16. Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy.
Hong D; Zheng J; Xin L; Xiang Y; Luan X; Cao L; Cong L; Fang P; Zhang J
Clin Neuropathol; 2019; 38(4):157-167. PubMed ID: 30738494
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 21544567
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 22964912
[TBL] [Abstract][Full Text] [Related]
19. Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle.
Zheng Y; Liu L; Wang L; Xiao J; Wang Z; Lv H; Zhang W; Yuan Y
Rheumatology (Oxford); 2015 Jun; 54(6):1017-24. PubMed ID: 25417246
[TBL] [Abstract][Full Text] [Related]
20. [Magnetic resonance imaging of dystrophinopathy that mimics adductor enthesopathy].
Zheng YM; Li WZ; Wang ZX; Zhang W; Lv H; Xiao JX; Yuan Y
Beijing Da Xue Xue Bao Yi Xue Ban; 2016 Oct; 48(5):846-849. PubMed ID: 27752168
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
