Imbard A, de Calbiac H, Le Guillou E, Laforet P, Schiff M, Brassier A
J Inherit Metab Dis. 2024; 48(1):e12819.
PMID: 39648745
PMC: 11670292.
DOI: 10.1002/jimd.12819.
Belal S, Lee J, Park J, Kang D, Shim K
Foods. 2024; 13(14).
PMID: 39063284
PMC: 11276066.
DOI: 10.3390/foods13142200.
Schirinzi E, Ricci G, Torri F, Mancuso M, Siciliano G
Biomolecules. 2024; 14(1).
PMID: 38254650
PMC: 10812926.
DOI: 10.3390/biom14010050.
Chen K, Gao P, Fang X, Tang K, Ouyang P, Li Z
Animal Model Exp Med. 2023; 8(1):154-161.
PMID: 38155504
PMC: 11798746.
DOI: 10.1002/ame2.12373.
Wang F, Liu Y, Dong Y, Zhao M, Huang H, Jin J
Front Med. 2023; 18(1):180-191.
PMID: 37776435
DOI: 10.1007/s11684-023-1003-0.
Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea J, Severa G, Malfatti E
Genes (Basel). 2023; 14(5).
PMID: 37239314
PMC: 10217901.
DOI: 10.3390/genes14050954.
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
Heinonen T, Flegel T, Muller H, Kehl A, Hundi S, Matiasek K
Hum Genet. 2023; 142(8):1221-1230.
PMID: 37222814
PMC: 10449970.
DOI: 10.1007/s00439-023-02571-z.
Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
Landim J, Ribeiro I, Oliveira E, Freitas H, Brito L, Maia I
BMC Neurol. 2023; 23(1):171.
PMID: 37106355
PMC: 10134569.
DOI: 10.1186/s12883-023-03195-6.
Quantitative proteomics reveals ameliorates hepatic steatosis by promoting PPARs/CPT1A/CPT2-mediated fatty acid β-oxidation.
Liu G, Chang L, Qian Y, Lin J, Shang Z, Xu M
Front Pharmacol. 2023; 14:1016129.
PMID: 37033635
PMC: 10076547.
DOI: 10.3389/fphar.2023.1016129.
Muscle MRI-Based Atrophy Pattern Recognition: Notable Findings in a Case of Pathologically Proven Lipid Storage Myopathy.
Patwardhan A, Mukherjee J, Mhatre R, Lanka V, Asranna A, Tiwari R
Ann Indian Acad Neurol. 2023; 25(6):1184-1187.
PMID: 36911427
PMC: 9996520.
DOI: 10.4103/aian.aian_447_22.
Pathophysiology and Management of Fatigue in Neuromuscular Diseases.
Torri F, Lopriore P, Montano V, Siciliano G, Mancuso M, Ricci G
Int J Mol Sci. 2023; 24(5).
PMID: 36902435
PMC: 10003182.
DOI: 10.3390/ijms24055005.
Metabolite patterns associated with individual response to supervised exercise therapy in patients with intermittent claudication.
Bellomo T, Tsao N, Johnston-Cox H, Borkowski K, Shakt G, Judy R
JVS Vasc Sci. 2022; 3:379-388.
PMID: 36568282
PMC: 9772856.
DOI: 10.1016/j.jvssci.2022.10.002.
Statins Induce Locomotion and Muscular Phenotypes in That Are Reminiscent of Human Myopathy: Evidence for the Role of the Chloride Channel Inhibition in the Muscular Phenotypes.
Al-Sabri M, Behare N, Alsehli A, Berkins S, Arora A, Antoniou E
Cells. 2022; 11(22).
PMID: 36428957
PMC: 9688544.
DOI: 10.3390/cells11223528.
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.
Angelini C, Burlina A, Blau N, Ferreira C
Mol Genet Metab. 2022; 137(1-2):213-222.
PMID: 36155185
PMC: 10507680.
DOI: 10.1016/j.ymgme.2022.09.004.
A Review of free fatty acid-induced cell signaling, angiopoietin-like protein 4, and skeletal muscle differentiation.
Son Y, Paton C
Front Physiol. 2022; 13:987977.
PMID: 36148297
PMC: 9485487.
DOI: 10.3389/fphys.2022.987977.
Mutation Spectrum of Primary Lipid Storage Myopathies.
Vengalil S, Polavarapu K, Preethish-Kumar V, Nashi S, Arunachal G, Chawla T
Ann Indian Acad Neurol. 2022; 25(1):106-113.
PMID: 35342266
PMC: 8954319.
DOI: 10.4103/aian.aian_333_21.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Manta A, Spendiff S, Lochmuller H, Thompson R
J Neuromuscul Dis. 2021; 8(3):401-417.
PMID: 33720849
PMC: 8203237.
DOI: 10.3233/JND-200621.
Unmasking fibromyalgia as a mitochondrial disorder requires search for more than a single variant or single mtDNA deletions.
Finsterer J
Indian J Med Res. 2020; 152(4):429-430.
PMID: 33380711
PMC: 8061596.
DOI: 10.4103/ijmr.IJMR_1039_19.
The Association Between Acylcarnitine Metabolites and Cardiovascular Disease in Chinese Patients With Type 2 Diabetes Mellitus.
Zhao S, Feng X, Huang T, Luo H, Chen J, Zeng J
Front Endocrinol (Lausanne). 2020; 11:212.
PMID: 32431666
PMC: 7214635.
DOI: 10.3389/fendo.2020.00212.
ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
Chokchaiwong S, Kuo Y, Hsu S, Hsu Y, Lin S, Zhong W
Cells. 2019; 8(2).
PMID: 30709034
PMC: 6406559.
DOI: 10.3390/cells8020106.