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Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.Orphanet J Rare Dis. 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1.
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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.Ann Neurol. 2016 Oct;80(4):638-42. doi: 10.1002/ana.24762. Epub 2016 Sep 9.
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Analysis on kidney injury-related clinical risk factors and evaluation on the therapeutic effects of hemoperfusion in children with Henoch-Schonlein purpura.Eur Rev Med Pharmacol Sci. 2017 Oct;21(17):3894-3899.
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Further evidence for a fourth gene causing X-linked pure spastic paraplegia.Am J Med Genet. 2002 Aug 1;111(2):152-6. doi: 10.1002/ajmg.10551.
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S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.Dis Model Mech. 2017 Jan 1;10(1):53-62. doi: 10.1242/dmm.026880. Epub 2016 Nov 24.
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The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders.J Biomed Sci. 2018 Jan 8;25(1):2. doi: 10.1186/s12929-017-0403-3.
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Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16.
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A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. Hum Mutat. 2016 Feb;37(2):165-9. doi: 10.1002/humu.22930. Epub 2015 Dec 10.
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.Orphanet J Rare Dis. 2017 Nov 2;12(1):172. doi: 10.1186/s13023-017-0721-2.
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Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub 2003 Nov 17.
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Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.Front Neurol. 2019 Feb 22;10:131. doi: 10.3389/fneur.2019.00131. eCollection 2019.
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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7.
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Clinical and genetic characterization of AP4B1-associated SPG47.Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28.
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Decreased TIM-3 mRNA expression in peripheral blood mononuclear cells from nephropathy patients.Genet Mol Res. 2015 Jun 12;14(2):6543-8. doi: 10.4238/2015.June.12.7.
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.BMC Med Genet. 2019 Jul 4;20(1):119. doi: 10.1186/s12881-019-0851-6.
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ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042.
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Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.Mol Cell Neurosci. 2018 Oct;92:17-26. doi: 10.1016/j.mcn.2018.05.009. Epub 2018 Jun 1.
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Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.Mol Genet Metab. 2018 Aug;124(4):230-237. doi: 10.1016/j.ymgme.2018.06.014. Epub 2018 Jun 28.
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BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.Muscle Nerve. 2019 Apr;59(4):484-486. doi: 10.1002/mus.26394. Epub 2018 Dec 21.
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A study on the association between C1GALT1 polymorphisms and the risk of Henoch-Schnlein purpura in a Chinese population.Rheumatol Int. 2013 Oct;33(10):2539-42. doi: 10.1007/s00296-013-2761-9. Epub 2013 Apr 27.
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Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4.
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The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase.Biochemistry. 2018 Oct 2;57(39):5759-5767. doi: 10.1021/acs.biochem.8b00810. Epub 2018 Sep 17.
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Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13.
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Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.BMC Med Genet. 2014 Apr 1;15:39. doi: 10.1186/1471-2350-15-39.
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Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.J Clin Neurosci. 2019 Jan;59:337-339. doi: 10.1016/j.jocn.2018.10.094. Epub 2018 Nov 13.
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Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.J Biol Chem. 2019 Mar 15;294(11):3853-3871. doi: 10.1074/jbc.RA118.006311. Epub 2019 Jan 20.
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Kidney Injury Molecule-1 Level is Associated with the Severity of Renal Interstitial Injury and Prognosis in Adult Henoch-Schnlein Purpura Nephritis.Arch Med Res. 2017 Jul;48(5):449-458. doi: 10.1016/j.arcmed.2017.10.005. Epub 2017 Nov 6.
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Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.Neurogenetics. 2019 Mar;20(1):27-38. doi: 10.1007/s10048-019-00565-6. Epub 2019 Feb 19.
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A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.Neurology. 2006 Apr 25;66(8):1230-4. doi: 10.1212/01.wnl.0000208501.52849.dd.
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Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.Ital J Pediatr. 2019 Dec 3;45(1):155. doi: 10.1186/s13052-019-0752-5.
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A network biology approach to unraveling inherited axonopathies.Sci Rep. 2019 Feb 8;9(1):1692. doi: 10.1038/s41598-018-37119-z.
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Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.Brain Dev. 2018 Jun;40(6):458-464. doi: 10.1016/j.braindev.2018.02.013. Epub 2018 Mar 12.
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Three routes to suppression of the neurodegenerative phenotypes caused by kinesin heavy chain mutations.Genetics. 2012 Sep;192(1):173-83. doi: 10.1534/genetics.112.140798. Epub 2012 Jun 19.
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Molecular mimicry between HSP 65 of Mycobacterium leprae and cytokeratin 10 of the host keratin; role in pathogenesis of leprosy.Cell Immunol. 2012 Jul-Aug;278(1-2):63-75. doi: 10.1016/j.cellimm.2012.06.011. Epub 2012 Jul 20.
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Exploration of susceptible genes associated with Henoch-Schnlein purpura by whole exome sequencing.Adv Clin Exp Med. 2019 Sep;28(9):1199-1207. doi: 10.17219/acem/103800.
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The gene expression profile of matrix metalloproteinases and their inhibitors in children with Henoch-Schnlein purpura.Br J Dermatol. 2011 Jun;164(6):1348-55. doi: 10.1111/j.1365-2133.2011.10295.x.
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TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.Acta Neuropathol. 2012 Aug;124(2):285-91. doi: 10.1007/s00401-012-0947-y.
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Association of the paired box 2 gene polymorphism with the susceptibility and pathogenesis of HenochSchnlein purpura in children.Mol Med Rep. 2015 Mar;11(3):1997-2003. doi: 10.3892/mmr.2014.2908. Epub 2014 Nov 10.
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Engineered Exosome-Mediated Near-Infrared-II Region V(2)C Quantum Dot Delivery for Nucleus-Target Low-Temperature Photothermal Therapy.ACS Nano. 2019 Feb 26;13(2):1499-1510. doi: 10.1021/acsnano.8b07224. Epub 2019 Jan 29.
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PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.J Hum Genet. 2019 Jan;64(1):55-59. doi: 10.1038/s10038-018-0519-7. Epub 2018 Oct 9.
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21.
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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.J Neurol. 2019 Mar;266(3):735-744. doi: 10.1007/s00415-019-09196-1. Epub 2019 Jan 12.
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TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.Mol Cell. 2015 Oct 1;60(1):89-104. doi: 10.1016/j.molcel.2015.09.010.
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.J Neurol. 2014 Feb;261(2):373-81. doi: 10.1007/s00415-013-7206-6. Epub 2013 Dec 13.
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Three cases of Troyer syndrome in two families of Filipino descent.Am J Med Genet A. 2016 Jul;170(7):1780-5. doi: 10.1002/ajmg.a.37658. Epub 2016 Apr 26.
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MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.Clin Sci (Lond). 2019 Feb 22;133(4):583-595. doi: 10.1042/CS20180980. Print 2019 Feb 28.
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Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?.Front Neurol. 2019 May 24;10:508. doi: 10.3389/fneur.2019.00508. eCollection 2019.
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SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.J Hum Genet. 2019 Nov;64(11):1145-1151. doi: 10.1038/s10038-019-0669-2. Epub 2019 Sep 12.
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Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.Cell Rep. 2018 Aug 28;24(9):2248-2260. doi: 10.1016/j.celrep.2018.07.081.
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Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.Neurology. 1996 Apr;46(4):1112-7. doi: 10.1212/wnl.46.4.1112.
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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2.
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