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neutral lipid storage disease相关文献:
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
Samukawa M, Nakamura N, Hirano M, Morikawa M, Sakata H, Nishino I, Izumi R, Suzuki N, Kuroda H, Shiga K, Saigoh K, Aoki M, Kusunoki S.
Eur Neurol. 2020;83(3):317-322. doi: 10.1159/000508346. Epub 2020 Jun 19.
PMID:32564019
Neutral lipid storage disease with myopathy: A 10-year follow-up case report.
Missaglia S, Tavian D, Angelini C.
Eur J Transl Myol. 2022 Jun 17;32(2):10645. doi: 10.4081/ejtm.2022.10645.
PMID:35713537
Lipid storage myopathy.
Liang WC, Nishino I.
Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y.
PMID:21046290
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.
Massa R, Pozzessere S, Rastelli E, Serra L, Terracciano C, Gibellini M, Bozzali M, Arca M.
Muscle Nerve. 2016 Apr;53(4):644-8. doi: 10.1002/mus.24983. Epub 2016 Feb 22.
PMID:26600210
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. doi: 10.1016/j.nmd.2023.12.012. Epub 2023 Dec 21.
PMID:38194732
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.
PMID:19401457
Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center.
Luan YN, Shi GZ, Li QX, Huang K, Yang H.
Orphanet J Rare Dis. 2025 Jul 1;20(1):322. doi: 10.1186/s13023-025-03861-7.
PMID:40598302
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Missaglia S, Coleman RA, Mordente A, Tavian D.
Cells. 2019 Feb 21;8(2):187. doi: 10.3390/cells8020187.
PMID:30795549
Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM.
J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13.
PMID:28503705
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Yamada K, Yaguchi H, Abe M, Ishikawa K, Tanaka D, Oshima Y, Kudo A, Uwatoko H, Shirai S, Takahashi-Iwata I, Matsushima M, Nishino I, Yabe I.
Clin Neurol Neurosurg. 2023 May;228:107670. doi: 10.1016/j.clineuro.2023.107670. Epub 2023 Mar 13.
PMID:36996668
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