| 1 |
ClinicalTrials.gov (NCT01830972) An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy. U.S. National Institutes of Health.
|
| 2 |
ClinicalTrials.gov (NCT02346461) An Open Label Phase 2 Study of DEX-M74 in Subjects With GNE Myopathy. U.S. National Institutes of Health.
|
| 3 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800034673)
|
| 4 |
URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4644).
|
| 5 |
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice.J Physiol. 2019 Mar;597(5):1361-1381. doi: 10.1113/JP277123. Epub 2019 Jan 30.
|
| 6 |
Inborn errors of cytoplasmic triglyceride metabolism.J Inherit Metab Dis. 2015 Jan;38(1):85-98. doi: 10.1007/s10545-014-9767-7. Epub 2014 Oct 10.
|
| 7 |
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.Muscle Nerve. 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. Epub 2019 Apr 29.
|
| 8 |
Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology.J Biol Chem. 2006 Dec 8;281(49):37972-9. doi: 10.1074/jbc.M606059200. Epub 2006 Sep 26.
|
| 9 |
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.
|
| 10 |
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.
|
| 11 |
Efficacy and the Safety of Granulocyte Colony-Stimulating Factor Treatment in Patients with Muscular Dystrophy: A Non-Randomized Clinical Trial.Front Neurol. 2017 Oct 26;8:566. doi: 10.3389/fneur.2017.00566. eCollection 2017.
|
| 12 |
ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain.J Physiol. 2019 Jan;597(2):561-582. doi: 10.1113/JP277079. Epub 2018 Nov 28.
|
| 13 |
Late-onset megaconial myopathy in mice lacking group I Paks.Skelet Muscle. 2019 Feb 21;9(1):5. doi: 10.1186/s13395-019-0191-4.
|
| 14 |
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.Muscle Nerve. 2018 Jan;57(1):157-160. doi: 10.1002/mus.25588. Epub 2017 Mar 21.
|
| 15 |
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10.
|
| 16 |
Clofibrate, nephrotic syndrome, and histological changes in muscle.Lancet. 1973 Jun 9;1(7815):1326. doi: 10.1016/s0140-6736(73)91351-2.
|
| 17 |
Overexpression of semicarbazide-sensitive amine oxidase in human myopathies.Muscle Nerve. 2004 Feb;29(2):261-6. doi: 10.1002/mus.10550.
|
| 18 |
Arginine deficiency causes runting in the suckling period by selectively activating the stress kinase GCN2.J Biol Chem. 2011 Mar 18;286(11):8866-74. doi: 10.1074/jbc.M110.216119. Epub 2011 Jan 14.
|
| 19 |
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.Pharmacogenomics. 2018 Nov;19(16):1235-1249. doi: 10.2217/pgs-2018-0106. Epub 2018 Oct 16.
|
| 20 |
Autophagic vacuolar myopathy is a common feature of CLN3 disease.Ann Clin Transl Neurol. 2018 Oct 14;5(11):1385-1393. doi: 10.1002/acn3.662. eCollection 2018 Nov.
|
| 21 |
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.
|
| 22 |
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9.
|
| 23 |
Endogenous cathepsin B inhibitor activity in normal and myopathic red and white skeletal muscle.Muscle Nerve. 1982 Apr;5(4):313-20. doi: 10.1002/mus.880050407.
|
| 24 |
Interaction potential between clarithromycin and individual statins-A systematic review.Basic Clin Pharmacol Toxicol. 2020 Apr;126(4):307-317. doi: 10.1111/bcpt.13343. Epub 2019 Nov 8.
|
| 25 |
Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5.Proc Natl Acad Sci U S A. 2015 Jun 30;112(26):8041-5. doi: 10.1073/pnas.1422273112. Epub 2015 Jun 15.
|
| 26 |
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.Sci Rep. 2019 Feb 7;9(1):1580. doi: 10.1038/s41598-018-38184-0.
|
| 27 |
Fabp3 as a biomarker of skeletal muscle toxicity in the rat: comparison with conventional biomarkers.Toxicol Sci. 2008 Jun;103(2):382-96. doi: 10.1093/toxsci/kfn042. Epub 2008 Feb 27.
|
| 28 |
A common missense variant of LILRB5 is associated with statin intolerance and myalgia.Eur Heart J. 2017 Dec 21;38(48):3569-3575. doi: 10.1093/eurheartj/ehx467.
|
| 29 |
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.Blood. 2010 Jan 28;115(4):860-9. doi: 10.1182/blood-2009-09-243105. Epub 2009 Nov 25.
|
| 30 |
Fibroblast Growth Factor 21 (FGF21) Promotes Formation of Aerobic Myofibers via the FGF21-SIRT1-AMPK-PGC1 Pathway.J Cell Physiol. 2017 Jul;232(7):1893-1906. doi: 10.1002/jcp.25735. Epub 2017 Jan 5.
|
| 31 |
Muscle death participates in myofibrillar abnormalities in FHL1 knockout mice.Biochem Biophys Res Commun. 2020 Feb 26;523(1):105-111. doi: 10.1016/j.bbrc.2019.12.026. Epub 2019 Dec 10.
|
| 32 |
Follistatin-based ligand trap ACE-083 induces localized hypertrophy of skeletal muscle with functional improvement in models of neuromuscular disease.Sci Rep. 2019 Aug 6;9(1):11392. doi: 10.1038/s41598-019-47818-w.
|
| 33 |
Gene therapy for glycogen storage diseases.Hum Mol Genet. 2019 Oct 1;28(R1):R31-R41. doi: 10.1093/hmg/ddz133.
|
| 34 |
The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice.Sci Rep. 2019 Jul 24;9(1):10769. doi: 10.1038/s41598-019-46723-6.
|
| 35 |
The atypical calpains: evolutionary analyses and roles in Caenorhabditis elegans cellular degeneration.PLoS Genet. 2012;8(3):e1002602. doi: 10.1371/journal.pgen.1002602. Epub 2012 Mar 29.
|
| 36 |
Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble.Neuromuscul Disord. 2019 Jul;29(7):543-548. doi: 10.1016/j.nmd.2019.05.007. Epub 2019 May 23.
|
| 37 |
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.
|
| 38 |
Physiogenomic association of statin-related myalgia to serotonin receptors. Muscle Nerve. 2007 Sep;36(3):329-35. doi: 10.1002/mus.20871.
|
| 39 |
Insulin-induced weakness in hypokalemic myopathy.Ann Neurol. 1979 Aug;6(2):139-40. doi: 10.1002/ana.410060216.
|
| 40 |
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.J Biol Chem. 2003 Dec 19;278(51):51779-85. doi: 10.1074/jbc.M310278200. Epub 2003 Oct 1.
|
| 41 |
Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.Biochem Biophys Res Commun. 2020 Jan 8;521(2):414-419. doi: 10.1016/j.bbrc.2019.10.138. Epub 2019 Oct 28.
|
| 42 |
Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells. FASEB J. 2005 Aug;19(10):1359-61.
|
| 43 |
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.PLoS One. 2010 Dec 14;5(12):e14342. doi: 10.1371/journal.pone.0014342.
|
| 44 |
Reduced serum myostatin concentrations associated with genetic muscle disease progression.J Neurol. 2017 Mar;264(3):541-553. doi: 10.1007/s00415-016-8379-6. Epub 2017 Jan 10.
|
| 45 |
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.Front Neurosci. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974. eCollection 2019.
|
| 46 |
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24.
|
| 47 |
Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.PLoS One. 2011;6(9):e24123. doi: 10.1371/journal.pone.0024123. Epub 2011 Sep 7.
|
| 48 |
Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report.Am J Transl Res. 2018 Nov 15;10(11):3827-3832. eCollection 2018.
|
| 49 |
Successful treatment of a patient with statin-induced myopathy and myotonic dystrophy type II with proprotein convertase subtilisin/kexin type 9 inhibitor, alirocumab (Praluent).J Clin Lipidol. 2017 Nov-Dec;11(6):1485-1487. doi: 10.1016/j.jacl.2017.08.014. Epub 2017 Sep 4.
|
| 50 |
Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle.Neuromuscul Disord. 2002 Feb;12(2):117-20. doi: 10.1016/s0960-8966(01)00251-6.
|
| 51 |
Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. Toxicol In Vitro. 2010 Feb;24(1):154-9. doi: 10.1016/j.tiv.2009.08.001. Epub 2009 Aug 13.
|
| 52 |
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice.Hum Mol Genet. 2009 Jun 1;18(11):2024-31. doi: 10.1093/hmg/ddp126. Epub 2009 Mar 17.
|
| 53 |
Changes in protein kinase C in early cardiomyopathy and in gracilis muscle in the BB/Wor diabetic rat.Am J Physiol. 1998 Jan;274(1):H295-307. doi: 10.1152/ajpheart.1998.274.1.H295.
|
| 54 |
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy.Neurology. 2004 May 25;62(10):1778-82. doi: 10.1212/01.wnl.0000125197.70310.8e.
|
| 55 |
Activation of p53-regulated pro-apoptotic signaling pathways in PrP-mediated myopathy.BMC Genomics. 2009 Apr 28;10:201. doi: 10.1186/1471-2164-10-201.
|
| 56 |
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.Neurology. 2019 Apr 2;92(14):e1600-e1609. doi: 10.1212/WNL.0000000000007246. Epub 2019 Mar 6.
|
| 57 |
Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle.Neurosci Bull. 2009 Apr;25(2):61-6. doi: 10.1007/s12264-009-0926-2.
|
| 58 |
Inhibition of Methyltransferase Setd7 Allows the InVitro Expansion of Myogenic Stem Cells with Improved Therapeutic Potential.Cell Stem Cell. 2018 Feb 1;22(2):177-190.e7. doi: 10.1016/j.stem.2017.12.010. Epub 2018 Jan 25.
|
| 59 |
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.Hum Mol Genet. 2008 May 1;17(9):1214-21. doi: 10.1093/hmg/ddn029. Epub 2008 Feb 5.
|
| 60 |
Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping.J Clin Invest. 2015 Nov 2;125(11):4186-95. doi: 10.1172/JCI82768. Epub 2015 Oct 12.
|
| 61 |
Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.Mol Biol Cell. 2015 Jun 1;26(11):1985-94. doi: 10.1091/mbc.E15-01-0030. Epub 2015 Apr 1.
|
| 62 |
Deletion of the Ste20-like kinase SLK in skeletal muscle results in a progressive myopathy and muscle weakness.Skelet Muscle. 2017 Feb 2;7(1):3. doi: 10.1186/s13395-016-0119-1.
|
| 63 |
Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells.Front Immunol. 2019 Apr 24;10:881. doi: 10.3389/fimmu.2019.00881. eCollection 2019.
|
| 64 |
Sequestosome-1 (p62) expression reveals chaperone-assisted selective autophagy in immune-mediated necrotizing myopathies.Brain Pathol. 2020 Mar;30(2):261-271. doi: 10.1111/bpa.12772. Epub 2019 Aug 27.
|
| 65 |
ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97.Mol Cell. 2019 May 16;74(4):742-757.e8. doi: 10.1016/j.molcel.2019.03.027. Epub 2019 Apr 9.
|
| 66 |
A graphene oxide/gold nanoparticle-based amplification method for SERS immunoassay of cardiac troponin I.Analyst. 2019 Feb 25;144(5):1582-1589. doi: 10.1039/c8an02022a.
|
| 67 |
Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy.Hum Mol Genet. 2014 Feb 1;23(3):618-36. doi: 10.1093/hmg/ddt449. Epub 2013 Sep 18.
|
| 68 |
Lipid peroxidation and changes in cytochrome c oxidase and xanthine oxidase activity in organophosphorus anticholinesterase induced myopathy.J Physiol Paris. 1998 Jun-Aug;92(3-4):157-61. doi: 10.1016/s0928-4257(98)80002-8.
|
| 69 |
Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.JCI Insight. 2019 Apr 16;5(10):e125665. doi: 10.1172/jci.insight.125665.
|
| 70 |
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.Neurodegener Dis. 2017;17(6):304-312. doi: 10.1159/000481258. Epub 2017 Nov 11.
|
| 71 |
Clinical and genetic analysis of lipid storage myopathies.Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167.
|
| 72 |
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27.
|
| 73 |
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells.Nucleic Acids Res. 2012 May;40(9):3964-74. doi: 10.1093/nar/gks021. Epub 2012 Jan 19.
|
| 74 |
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.
|
| 75 |
Central nervous involvement is common in PGM1-CDG.Mol Genet Metab. 2018 Nov;125(3):200-204. doi: 10.1016/j.ymgme.2018.08.008. Epub 2018 Aug 21.
|
| 76 |
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9.
|
| 77 |
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3.
|
| 78 |
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.World J Pediatr. 2014 May;10(2):119-25. doi: 10.1007/s12519-014-0480-2. Epub 2014 May 7.
|
| 79 |
Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.Endocrinol Metab Clin North Am. 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1.
|
| 80 |
CAP2 deficiency delays myofibril actin cytoskeleton differentiation and disturbs skeletal muscle architecture and function.Proc Natl Acad Sci U S A. 2019 Apr 23;116(17):8397-8402. doi: 10.1073/pnas.1813351116. Epub 2019 Apr 8.
|
| 81 |
A conserved inter-domain communication mechanism regulates the ATPase activity of the AAA-protein Drg1.Sci Rep. 2017 Mar 17;7:44751. doi: 10.1038/srep44751.
|
| 82 |
Expanding the histopathological spectrum of CFL2-related myopathies.Clin Genet. 2018 Jun;93(6):1234-1239. doi: 10.1111/cge.13240. Epub 2018 Mar 25.
|
| 83 |
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
|
| 84 |
Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene.J Neurol Sci. 2012 Aug 15;319(1-2):158-63. doi: 10.1016/j.jns.2012.05.003. Epub 2012 May 24.
|
| 85 |
Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.Neuromuscul Disord. 2005 Dec;15(12):851-7. doi: 10.1016/j.nmd.2005.09.005. Epub 2005 Nov 8.
|
| 86 |
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12.
|
| 87 |
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.J Neuropathol Exp Neurol. 2016 Dec;75(12):1171-1178. doi: 10.1093/jnen/nlw096.
|
| 88 |
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2.
|
| 89 |
The disease-associated mutation of the mitochondrial thiol oxidase Erv1 impairs cofactor binding during its catalytic reaction.Biochem J. 2014 Dec 15;464(3):449-59. doi: 10.1042/BJ20140679.
|
| 90 |
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.J Neurol. 2019 Oct;266(10):2524-2534. doi: 10.1007/s00415-019-09437-3. Epub 2019 Jul 2.
|
| 91 |
Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.Hum Genet. 2006 Nov;120(4):487-99. doi: 10.1007/s00439-006-0228-8. Epub 2006 Aug 23.
|
| 92 |
Calcinosis and malignancy are rare in Chinese adult patients with myositis and nuclear matrix protein 2 antibodies identified by an unlabeled immunoprecipitation assay.Clin Rheumatol. 2018 Oct;37(10):2731-2739. doi: 10.1007/s10067-018-4216-x. Epub 2018 Jul 23.
|
| 93 |
Myo18b is essential for sarcomere assembly in fast skeletal muscle.Hum Mol Genet. 2017 Mar 15;26(6):1146-1156. doi: 10.1093/hmg/ddx025.
|
| 94 |
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0.
|
| 95 |
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.Hum Mol Genet. 2019 May 15;28(10):1709-1725. doi: 10.1093/hmg/ddz016.
|
| 96 |
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. doi: 10.1016/j.ejmg.2005.10.133. Epub 2005 Nov 28.
|
| 97 |
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.EMBO Mol Med. 2013 Jun;5(6):870-90. doi: 10.1002/emmm.201202057. Epub 2013 Apr 30.
|
| 98 |
Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture.Genes Dev. 1997 Dec 1;11(23):3143-56. doi: 10.1101/gad.11.23.3143.
|
| 99 |
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase mutations.J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):107-10. doi: 10.1136/jnnp-2012-303232. Epub 2012 Aug 29.
|
| 100 |
Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.J Am Coll Cardiol. 2005 Mar 15;45(6):922-30. doi: 10.1016/j.jacc.2004.11.053.
|
| 101 |
Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features.J Child Neurol. 2019 May;34(6):321-324. doi: 10.1177/0883073819829389. Epub 2019 Feb 14.
|
| 102 |
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.Acta Neuropathol. 2003 Jul;106(1):1-7. doi: 10.1007/s00401-003-0695-0. Epub 2003 Apr 1.
|
| 103 |
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.Neuromuscul Disord. 2017 Sep;27(9):856-860. doi: 10.1016/j.nmd.2017.05.017. Epub 2017 Jun 1.
|
| 104 |
Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies.J Mol Med (Berl). 2000;78(10):543-53. doi: 10.1007/s001090000161.
|
| 105 |
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of -dystroglycan and muscular dystrophy.Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.
|
| 106 |
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.
|
| 107 |
Metabolic myopathies discovered during investigations of statin myopathy.Can J Neurol Sci. 2008 Mar;35(1):94-7. doi: 10.1017/s0317167100007630.
|
| 108 |
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest. 2002 Mar;109(6):725-33. doi: 10.1172/JCI14010.
|
| 109 |
Trouble at the junction: When myopathy and myasthenia overlap.Muscle Nerve. 2019 Dec;60(6):648-657. doi: 10.1002/mus.26676. Epub 2019 Sep 10.
|
| 110 |
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. Hum Mol Genet. 2015 Nov 15;24(22):6485-91. doi: 10.1093/hmg/ddv357. Epub 2015 Sep 10.
|
| 111 |
X-linked vacuolated myopathy: membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S-protein.Muscle Nerve. 1998 Jul;21(7):932-5. doi: 10.1002/(sici)1097-4598(199807)21:7<932::aid-mus11>3.0.co;2-s.
|
| 112 |
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18.
|
| 113 |
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.Neuromuscul Disord. 2003 Aug;13(6):456-67. doi: 10.1016/s0960-8966(03)00066-x.
|
| 114 |
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.Neuromuscul Disord. 2019 Jul;29(7):549-553. doi: 10.1016/j.nmd.2019.05.008. Epub 2019 May 28.
|
| 115 |
The impact of Megf10/Drpr gain-of-function on muscle development inDrosophila.FEBS Lett. 2019 Apr;593(7):680-696. doi: 10.1002/1873-3468.13348. Epub 2019 Mar 12.
|
| 116 |
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20.
|
| 117 |
Perm1 regulates CaMKII activation and shapes skeletal muscle responses to endurance exercise training.Mol Metab. 2019 May;23:88-97. doi: 10.1016/j.molmet.2019.02.009. Epub 2019 Feb 27.
|
| 118 |
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10322-6. doi: 10.1073/pnas.92.22.10322.
|
| 119 |
Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles.Sci Rep. 2015 Aug 19;5:13235. doi: 10.1038/srep13235.
|
| 120 |
PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048.
|
| 121 |
Antirapsyn antibodies in chronic procainamide-associated myopathy (CPAM).Ann N Y Acad Sci. 1998 May 13;841:527-9. doi: 10.1111/j.1749-6632.1998.tb10975.x.
|
| 122 |
Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.FASEB J. 2014 Jul;28(7):2955-69. doi: 10.1096/fj.13-246470. Epub 2014 Mar 31.
|
| 123 |
Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2.BMC Biol. 2017 Nov 28;15(1):112. doi: 10.1186/s12915-017-0452-9.
|
| 124 |
Biomarkers of drug-induced skeletal muscle injury in the rat: troponin I and myoglobin.Toxicol Sci. 2009 Oct;111(2):402-12. doi: 10.1093/toxsci/kfp166. Epub 2009 Jul 23.
|
| 125 |
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.Mol Genet Genomic Med. 2019 Apr;7(4):e00582. doi: 10.1002/mgg3.582. Epub 2019 Jan 31.
|
| 126 |
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.Muscle Nerve. 2017 Jun;55(6):919-922. doi: 10.1002/mus.25262. Epub 2017 Mar 26.
|
| 127 |
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.Neuromuscul Disord. 2019 May;29(5):388-391. doi: 10.1016/j.nmd.2019.02.012. Epub 2019 Mar 2.
|
| 128 |
Actin alpha cardiac muscle 1 gene expression is upregulated in the skeletal muscle of men undergoing androgen deprivation therapy for prostate cancer.J Steroid Biochem Mol Biol. 2017 Nov;174:56-64. doi: 10.1016/j.jsbmb.2017.07.029. Epub 2017 Jul 27.
|
| 129 |
ACTN3 R577X Polymorphism Is Associated With the Incidence and Severity of Injuries in Professional Football Players.Clin J Sport Med. 2019 Jan;29(1):57-61. doi: 10.1097/JSM.0000000000000487.
|
| 130 |
Modulation of ADAR mRNA expression in patients with congenital heart defects.PLoS One. 2019 Apr 30;14(4):e0200968. doi: 10.1371/journal.pone.0200968. eCollection 2019.
|
| 131 |
Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy.Neuromuscul Disord. 2019 Apr;29(4):274-281. doi: 10.1016/j.nmd.2018.11.003. Epub 2018 Nov 22.
|
| 132 |
Statins and skeletal muscles toxicity: from clinical trials to everyday practice.Pharmacol Res. 2014 Oct;88:107-13. doi: 10.1016/j.phrs.2014.04.012. Epub 2014 May 13.
|
| 133 |
A disease-associated Aifm1 variant induces severe myopathy in knockin mice.Mol Metab. 2018 Jul;13:10-23. doi: 10.1016/j.molmet.2018.05.002. Epub 2018 May 8.
|
| 134 |
Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.Dev Cell. 2015 Oct 26;35(2):186-98. doi: 10.1016/j.devcel.2015.09.018.
|
| 135 |
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.Sci Rep. 2019 Aug 8;9(1):11533. doi: 10.1038/s41598-019-47849-3.
|
| 136 |
Apobec2 deficiency causes mitochondrial defects and mitophagy in skeletal muscle.FASEB J. 2018 Mar;32(3):1428-1439. doi: 10.1096/fj.201700493R. Epub 2018 Jan 3.
|
| 137 |
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20.
|
| 138 |
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.Nucleic Acids Res. 2000 Oct 15;28(20):E89. doi: 10.1093/nar/28.20.e89.
|
| 139 |
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.Am J Hum Genet. 1997 Oct;61(4):909-17. doi: 10.1086/514896.
|
| 140 |
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.Muscle Nerve. 2017 Jul;56(1):117-121. doi: 10.1002/mus.25435. Epub 2017 Feb 3.
|
| 141 |
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19.
|
| 142 |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.
|
| 143 |
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.PLoS One. 2016 May 19;11(5):e0155516. doi: 10.1371/journal.pone.0155516. eCollection 2016.
|
| 144 |
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.Brain Dev. 2019 May;41(5):474-479. doi: 10.1016/j.braindev.2019.01.005. Epub 2019 Feb 2.
|
| 145 |
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.J Clin Endocrinol Metab. 2019 Mar 1;104(3):957-960. doi: 10.1210/jc.2018-01331.
|
| 146 |
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes.J Cell Biol. 2009 Jun 29;185(7):1259-73. doi: 10.1083/jcb.200903053. Epub 2009 Jun 22.
|
| 147 |
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.
|
| 148 |
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3.
|
| 149 |
Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.Clin Pharmacol Ther. 2019 Dec;106(6):1353-1361. doi: 10.1002/cpt.1557. Epub 2019 Jul 31.
|
| 150 |
Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans.Cell Metab. 2015 Mar 3;21(3):428-42. doi: 10.1016/j.cmet.2015.01.019.
|
| 151 |
Smaug/SAMD4A restores translational activity of CUGBP1 and suppresses CUG-induced myopathy.PLoS Genet. 2013 Apr;9(4):e1003445. doi: 10.1371/journal.pgen.1003445. Epub 2013 Apr 18.
|
| 152 |
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.Hum Mol Genet. 2018 Jan 1;27(1):160-177. doi: 10.1093/hmg/ddx397.
|
| 153 |
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.Eur J Hum Genet. 2016 Aug;24(8):1216-9. doi: 10.1038/ejhg.2015.276. Epub 2016 Jan 27.
|
| 154 |
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.Neurogenetics. 2014 Aug;15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10.
|
| 155 |
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.Am J Med Genet A. 2012 Apr;158A(4):850-5. doi: 10.1002/ajmg.a.35232. Epub 2012 Mar 9.
|
| 156 |
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.Genet Med. 2020 Jan;22(1):112-123. doi: 10.1038/s41436-019-0599-6. Epub 2019 Jul 5.
|
| 157 |
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.Neuropathology. 2020 Feb;40(1):93-98. doi: 10.1111/neup.12607. Epub 2019 Dec 5.
|
| 158 |
Reductive Stress Selectively Disrupts Collagen Homeostasis and Modifies Growth Factor-independent Signaling Through the MAPK/Akt Pathway in Human Dermal Fibroblasts.Mol Cell Proteomics. 2019 Jun;18(6):1123-1137. doi: 10.1074/mcp.RA118.001140. Epub 2019 Mar 19.
|
| 159 |
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240.
|
| 160 |
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.Eur J Hum Genet. 2019 Feb;27(2):331-335. doi: 10.1038/s41431-018-0286-0. Epub 2018 Oct 12.
|
| 161 |
Cytochrome c oxidase deficiency in the muscle of patients with zidovudine myopathy is segmental and affects both mitochondrial DNA- and nuclear DNA-encoded subunits.Acta Neuropathol. 2000 Jul;100(1):82-6. doi: 10.1007/s004010051196.
|
| 162 |
Zebrafish cysteine and glycine-rich protein 3 is essential for mechanical stability in skeletal muscles.Biochem Biophys Res Commun. 2019 Apr 9;511(3):604-611. doi: 10.1016/j.bbrc.2019.02.115. Epub 2019 Feb 28.
|
| 163 |
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.
|
| 164 |
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.J Mol Med (Berl). 2002 Jul;80(7):389-96. doi: 10.1007/s00109-002-0343-5. Epub 2002 May 24.
|
| 165 |
Novel mutations in DNA2 associated with myopathy and mtDNA instability.Ann Clin Transl Neurol. 2019 Sep;6(9):1893-1899. doi: 10.1002/acn3.50888. Epub 2019 Sep 2.
|
| 166 |
DNAJB2 expression in normal and diseased human and mouse skeletal muscle.Am J Pathol. 2010 Jun;176(6):2901-10. doi: 10.2353/ajpath.2010.090663. Epub 2010 Apr 15.
|
| 167 |
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.
|
| 168 |
Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes.J Physiol. 1995 Mar 1;483 ( Pt 2)(Pt 2):299-306. doi: 10.1113/jphysiol.1995.sp020586.
|
| 169 |
Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.PLoS One. 2019 Aug 20;14(8):e0221512. doi: 10.1371/journal.pone.0221512. eCollection 2019.
|
| 170 |
Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS.Muscle Nerve. 2011 Oct;44(4):531-8. doi: 10.1002/mus.22115. Epub 2011 Aug 8.
|
| 171 |
Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.J Dermatol. 2019 Nov;46(11):1014-1018. doi: 10.1111/1346-8138.15045. Epub 2019 Aug 7.
|
| 172 |
The muscle-specific ubiquitin ligase atrogin-1/MAFbx mediates statin-induced muscle toxicity.J Clin Invest. 2007 Dec;117(12):3940-51. doi: 10.1172/JCI32741.
|
| 173 |
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.
|
| 174 |
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.J Neurol Sci. 2019 Mar 15;398:75-78. doi: 10.1016/j.jns.2019.01.019. Epub 2019 Jan 17.
|
| 175 |
RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).Mol Ther. 2011 Nov;19(11):2048-54. doi: 10.1038/mt.2011.118. Epub 2011 Jul 5.
|
| 176 |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9.
|
| 177 |
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27.
|
| 178 |
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.Neuromuscul Disord. 1999 Oct;9(6-7):403-7. doi: 10.1016/s0960-8966(99)00040-1.
|
| 179 |
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies.Neurol Sci. 2000;21(5 Suppl):S985-7. doi: 10.1007/s100720070017.
|
| 180 |
Iron-sulfur cluster biogenesis and human disease.Trends Genet. 2008 Aug;24(8):398-407. doi: 10.1016/j.tig.2008.05.008. Epub 2008 Jul 5.
|
| 181 |
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. Neuromuscul Disord. 2019 Dec;29(12):951-960. doi: 10.1016/j.nmd.2019.10.002. Epub 2019 Oct 23.
|
| 182 |
Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.Anim Genet. 2017 Feb;48(1):108-112. doi: 10.1111/age.12481. Epub 2016 Aug 1.
|
| 183 |
Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability.Exp Cell Res. 2019 Jun 15;379(2):150-158. doi: 10.1016/j.yexcr.2019.03.040. Epub 2019 Apr 3.
|
| 184 |
Entering a new phase of immunogenetics in the idiopathic inflammatory myopathies.Curr Opin Rheumatol. 2013 Nov;25(6):735-41. doi: 10.1097/01.bor.0000434676.70268.66.
|
| 185 |
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5.
|
| 186 |
Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls.Sci Rep. 2018 Apr 4;8(1):5609. doi: 10.1038/s41598-018-23139-2.
|
| 187 |
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.Neuromuscul Disord. 2007 Feb;17(2):174-9. doi: 10.1016/j.nmd.2006.11.002. Epub 2007 Jan 22.
|
| 188 |
Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.Hum Mol Genet. 2016 Dec 1;25(23):5178-5187. doi: 10.1093/hmg/ddw338.
|
| 189 |
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.Am J Pathol. 2002 Jun;160(6):2135-43. doi: 10.1016/s0002-9440(10)61162-5.
|
| 190 |
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.Invest Ophthalmol Vis Sci. 2005 Feb;46(2):530-9. doi: 10.1167/iovs.04-1125.
|
| 191 |
Impact of TIEG1 on the structural properties of fast- and slow-twitch skeletal muscle.Muscle Nerve. 2017 Mar;55(3):410-416. doi: 10.1002/mus.25252. Epub 2016 Dec 5.
|
| 192 |
Krppel-like factor 15: Regulator of BCAA metabolism and circadian protein rhythmicity.Pharmacol Res. 2018 Apr;130:123-126. doi: 10.1016/j.phrs.2017.12.018. Epub 2017 Dec 27.
|
| 193 |
Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy.Dis Model Mech. 2018 Jul 6;11(7):dmm033225. doi: 10.1242/dmm.033225.
|
| 194 |
Increased Expression of Laminin Subunit Alpha 1 Chain by dCas9-VP160.Mol Ther Nucleic Acids. 2017 Mar 17;6:68-79. doi: 10.1016/j.omtn.2016.11.004. Epub 2016 Dec 10.
|
| 195 |
Increased polyamines as protective disease modifiers in congenital muscular dystrophy.Hum Mol Genet. 2018 Jun 1;27(11):1905-1912. doi: 10.1093/hmg/ddy097.
|
| 196 |
LIM and cysteine-rich domains 1 (LMCD1) regulates skeletal muscle hypertrophy, calcium handling, and force.Skelet Muscle. 2019 Oct 31;9(1):26. doi: 10.1186/s13395-019-0214-1.
|
| 197 |
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.Diabetes Metab. 2019 Sep;45(4):382-389. doi: 10.1016/j.diabet.2018.09.006. Epub 2018 Oct 1.
|
| 198 |
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet. 2008 Oct;83(4):489-94. doi: 10.1016/j.ajhg.2008.09.002. Epub 2008 Sep 25.
|
| 199 |
Overexpression of Latent TGF Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGF.PLoS Genet. 2016 May 5;12(5):e1006019. doi: 10.1371/journal.pgen.1006019. eCollection 2016 May.
|
| 200 |
Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy.Sci Rep. 2018 Mar 6;8(1):4049. doi: 10.1038/s41598-018-21371-4.
|
| 201 |
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.Hum Mol Genet. 2006 Jul 1;15(13):2087-97. doi: 10.1093/hmg/ddl132. Epub 2006 May 22.
|
| 202 |
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.
|
| 203 |
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13.
|
| 204 |
Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.Eur J Med Genet. 2020 Jan;63(1):103623. doi: 10.1016/j.ejmg.2019.01.013. Epub 2019 Jan 24.
|
| 205 |
Deficiency of MTMR14 impairs male fertility in Mus musculus.PLoS One. 2018 Nov 9;13(11):e0206224. doi: 10.1371/journal.pone.0206224. eCollection 2018.
|
| 206 |
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.Hum Mol Genet. 2017 Oct 1;26(19):3736-3748. doi: 10.1093/hmg/ddx258.
|
| 207 |
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17.
|
| 208 |
Myosin binding protein C: implications for signal-transduction.J Muscle Res Cell Motil. 2012 May;33(1):31-42. doi: 10.1007/s10974-011-9281-6. Epub 2011 Dec 16.
|
| 209 |
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.PLoS One. 2015 Nov 6;10(11):e0142094. doi: 10.1371/journal.pone.0142094. eCollection 2015.
|
| 210 |
Myosin VI localization and expression in striated muscle pathology.Anat Rec (Hoboken). 2014 Sep;297(9):1706-13. doi: 10.1002/ar.22967.
|
| 211 |
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.PLoS One. 2016 Mar 21;11(3):e0151376. doi: 10.1371/journal.pone.0151376. eCollection 2016.
|
| 212 |
Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.FASEB J. 2019 Mar;33(3):3152-3166. doi: 10.1096/fj.201801402R. Epub 2018 Oct 26.
|
| 213 |
High efficiency myogenic conversion of human fibroblasts by adenoviral vector-mediated MyoD gene transfer. An alternative strategy for ex vivo gene therapy of primary myopathies.J Clin Invest. 1998 May 15;101(10):2119-28. doi: 10.1172/JCI1505.
|
| 214 |
The role of AMP-activated protein kinase in the expression of the dystrophin-associated protein complex in skeletal muscle.FASEB J. 2018 Jun;32(6):2950-2965. doi: 10.1096/fj.201700868RRR. Epub 2018 Jan 11.
|
| 215 |
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12.
|
| 216 |
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.
|
| 217 |
The potential of obscurin as a therapeutic target in muscle disorders.Expert Opin Ther Targets. 2017 Sep;21(9):897-910. doi: 10.1080/14728222.2017.1361931. Epub 2017 Aug 4.
|
| 218 |
Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex.Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2908-13. doi: 10.1073/pnas.0913736107. Epub 2010 Feb 1.
|
| 219 |
Optineurin is potentially associated with TDP-43 and involved in the pathogenesis of inclusion body myositis.Neuropathol Appl Neurobiol. 2013 Jun;39(4):406-16. doi: 10.1111/j.1365-2990.2012.01297.x.
|
| 220 |
Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.Neuromuscul Disord. 2016 Jul;26(7):436-40. doi: 10.1016/j.nmd.2016.05.001. Epub 2016 May 5.
|
| 221 |
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.Eur J Hum Genet. 2004 Jul;12(7):579-83. doi: 10.1038/sj.ejhg.5201200.
|
| 222 |
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16.
|
| 223 |
Poly(C)-binding protein 1 (Pcbp1) regulates skeletal muscle differentiation by modulating microRNA processing in myoblasts.J Biol Chem. 2017 Jun 9;292(23):9540-9550. doi: 10.1074/jbc.M116.773671. Epub 2017 Apr 5.
|
| 224 |
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.J Neurol Sci. 2012 Jul 15;318(1-2):163-7. doi: 10.1016/j.jns.2012.04.007. Epub 2012 Apr 27.
|
| 225 |
Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction.Parkinsonism Relat Disord. 2019 Jul;64:319-323. doi: 10.1016/j.parkreldis.2019.04.004. Epub 2019 Apr 5.
|
| 226 |
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am J Med Genet A. 2005 Feb 15;133A(1):82-4. doi: 10.1002/ajmg.a.30517.
|
| 227 |
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.Brain. 2006 Sep;129(Pt 9):2363-74. doi: 10.1093/brain/awl161. Epub 2006 Jun 30.
|
| 228 |
Distal myopathy.Tohoku J Exp Med. 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1.
|
| 229 |
Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.Hum Mol Genet. 2009 Oct 1;18(19):3553-66. doi: 10.1093/hmg/ddp304. Epub 2009 Jul 4.
|
| 230 |
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.Neuromuscul Disord. 2017 May;27(5):481-486. doi: 10.1016/j.nmd.2017.01.011. Epub 2017 Jan 17.
|
| 231 |
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20.
|
| 232 |
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.Acta Neuropathol Commun. 2019 Aug 27;7(1):138. doi: 10.1186/s40478-019-0781-8.
|
| 233 |
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.Biochem Biophys Res Commun. 2004 Oct 1;322(4):1256-66. doi: 10.1016/j.bbrc.2004.08.031.
|
| 234 |
Stable reference genes for expression studies in breast muscle of normal and white striping-affected chickens.Mol Biol Rep. 2020 Jan;47(1):45-53. doi: 10.1007/s11033-019-05103-z. Epub 2019 Oct 3.
|
| 235 |
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.
|
| 236 |
Post-transcriptional control of selenoprotein biosynthesis.Curr Protein Pept Sci. 2012 Jun;13(4):337-46. doi: 10.2174/138920312801619448.
|
| 237 |
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.Redox Biol. 2019 Jun;24:101176. doi: 10.1016/j.redox.2019.101176. Epub 2019 Mar 23.
|
| 238 |
SENP5, a SUMO isopeptidase, induces apoptosis and cardiomyopathy.J Mol Cell Cardiol. 2015 Jan;78:154-64. doi: 10.1016/j.yjmcc.2014.08.003. Epub 2014 Aug 12.
|
| 239 |
Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy. A study of two families.Brain. 1975 Dec;98(4):709-22. doi: 10.1093/brain/98.4.709.
|
| 240 |
SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology.Dis Model Mech. 2018 May 10;11(5):dmm033043. doi: 10.1242/dmm.033043.
|
| 241 |
Sarcolipin deletion exacerbates soleus muscle atrophy and weakness in phospholamban overexpressing mice.PLoS One. 2017 Mar 9;12(3):e0173708. doi: 10.1371/journal.pone.0173708. eCollection 2017.
|
| 242 |
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.Eur J Hum Genet. 2015 Jan;23(1):67-71. doi: 10.1038/ejhg.2014.58. Epub 2014 Apr 23.
|
| 243 |
Calpain-dependent alpha-fodrin cleavage at the sarcolemma in muscle diseases.Muscle Nerve. 2005 Sep;32(3):303-9. doi: 10.1002/mus.20362.
|
| 244 |
The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle.Lab Invest. 1996 Jun;74(6):1117-29.
|
| 245 |
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.Hum Genet. 2017 Jul;136(7):903-910. doi: 10.1007/s00439-017-1814-7. Epub 2017 May 24.
|
| 246 |
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10.
|
| 247 |
STAC proteins associate to the IQ domain of Ca(V)1.2 and inhibit calcium-dependent inactivation.Proc Natl Acad Sci U S A. 2018 Feb 6;115(6):1376-1381. doi: 10.1073/pnas.1715997115. Epub 2018 Jan 23.
|
| 248 |
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.PLoS Genet. 2014 Sep 11;10(9):e1004605. doi: 10.1371/journal.pgen.1004605. eCollection 2014 Sep.
|
| 249 |
Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease.Biochem Soc Trans. 2018 Apr 17;46(2):311-320. doi: 10.1042/BST20170149. Epub 2018 Feb 27.
|
| 250 |
Advances in primary mitochondrial myopathies.Curr Opin Neurol. 2019 Oct;32(5):715-721. doi: 10.1097/WCO.0000000000000743.
|
| 251 |
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.
|
| 252 |
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9.
|
| 253 |
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096.
|
| 254 |
The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy.J Physiol. 2019 Aug;597(15):3999-4012. doi: 10.1113/JP278119. Epub 2019 Jul 3.
|
| 255 |
A new family with transportinopathy: increased clinical heterogeneity.Ther Adv Neurol Disord. 2019 Jun 9;12:1756286419850433. doi: 10.1177/1756286419850433. eCollection 2019.
|
| 256 |
Compound heterozygous mutations of the TNXB gene cause primary myopathy.Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12.
|
| 257 |
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.Am J Med Genet A. 2017 Mar;173(3):766-770. doi: 10.1002/ajmg.a.38082.
|
| 258 |
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.Hum Mol Genet. 2015 Jul 1;24(13):3638-50. doi: 10.1093/hmg/ddv108. Epub 2015 Mar 23.
|
| 259 |
Muscle RING-finger protein-1 (MuRF1) functions and cellular localization are regulated by SUMO1 post-translational modification.J Mol Cell Biol. 2019 May 1;11(5):356-370. doi: 10.1093/jmcb/mjy036.
|
| 260 |
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.J Neuropathol Exp Neurol. 2011 Apr;70(4):302-13. doi: 10.1097/NEN.0b013e31821350b0.
|
| 261 |
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.Am J Hum Genet. 2019 May 2;104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007.
|
| 262 |
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.Neuromuscul Disord. 2000 Dec;10(8):572-7. doi: 10.1016/s0960-8966(00)00150-4.
|
| 263 |
Titin mutations and muscle disease.Pflugers Arch. 2019 May;471(5):673-682. doi: 10.1007/s00424-019-02272-5. Epub 2019 Mar 27.
|
|
|
|
|
|
|
