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Journal Abstract Search

206 related items for PubMed ID: 18328984

  • 21. An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.
    Gidaro T, Modoni A, Sabatelli M, Tasca G, Broccolini A, Mirabella M.
    Muscle Nerve; 2008 Jan; 37(1):111-4. PubMed ID: 17763460
    [Abstract] [Full Text] [Related]

  • 22. Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.
    Iwamoto SJ, Rothman MS, Duan S, Baker JC, Mumm S, Whyte MP.
    Bone; 2020 Apr; 133():115224. PubMed ID: 31923705
    [Abstract] [Full Text] [Related]

  • 23. Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.
    Alonso N, Wani S, Rose L, Van't Hof RJ, Ralston SH, Albagha OME.
    J Bone Miner Res; 2021 Jul; 36(7):1376-1386. PubMed ID: 33724536
    [Abstract] [Full Text] [Related]

  • 24. Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.
    Chung PY, Beyens G, Riches PL, Van Wesenbeeck L, de Freitas F, Jennes K, Daroszewska A, Fransen E, Boonen S, Geusens P, Vanhoenacker F, Verbruggen L, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Karperien M, Papapoulos S, Ralston SH, Devogelaer JP, Van Hul W.
    J Bone Miner Res; 2010 Dec; 25(12):2592-605. PubMed ID: 20564239
    [Abstract] [Full Text] [Related]

  • 25. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.
    Stojkovic T, Hammouda el H, Richard P, López de Munain A, Ruiz-Martinez J, Camaño P, Laforêt P, Pénisson-Besnier I, Ferrer X, Lacour A, Lacomblez L, Claeys KG, Maurage CA, Fardeau M, Eymard B.
    Neuromuscul Disord; 2009 May; 19(5):316-23. PubMed ID: 19364651
    [Abstract] [Full Text] [Related]

  • 26. Pathogenesis of Paget's disease of bone.
    Ralston SH.
    Bone; 2008 Nov; 43(5):819-25. PubMed ID: 18672105
    [Abstract] [Full Text] [Related]

  • 27. Pathophysiology and genetics of metabolic bone disorders characterized by increased bone turnover.
    Beyens G, Van Hul W.
    Crit Rev Eukaryot Gene Expr; 2007 Nov; 17(3):215-40. PubMed ID: 17725490
    [Abstract] [Full Text] [Related]

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  • 30. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.
    Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D, International Hyperphosphatasia Collaborative Group.
    J Bone Miner Res; 2003 Dec; 18(12):2095-104. PubMed ID: 14672344
    [Abstract] [Full Text] [Related]

  • 31. An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation.
    Janssens K, de Vernejoul MC, de Freitas F, Vanhoenacker F, Van Hul W.
    Bone; 2005 Mar; 36(3):542-8. PubMed ID: 15777670
    [Abstract] [Full Text] [Related]

  • 32. Genetic disorders associated with the RANKL/OPG/RANK pathway.
    Xue JY, Ikegawa S, Guo L.
    J Bone Miner Metab; 2021 Jan; 39(1):45-53. PubMed ID: 32940787
    [Abstract] [Full Text] [Related]

  • 33. Genetics of Paget's disease of bone.
    Ralston SH, Albagha OM.
    Curr Osteoporos Rep; 2014 Sep; 12(3):263-71. PubMed ID: 24988994
    [Abstract] [Full Text] [Related]

  • 34. New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.
    Crockett JC, Mellis DJ, Scott DI, Helfrich MH.
    Osteoporos Int; 2011 Jan; 22(1):1-20. PubMed ID: 20458572
    [Abstract] [Full Text] [Related]

  • 35. Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.
    Peyer AK, Kinter J, Hench J, Frank S, Fuhr P, Thomann S, Fischmann A, Kneifel S, Camaño P, López de Munain A, Sinnreich M, Renaud S.
    Neuromuscul Disord; 2013 Feb; 23(2):149-54. PubMed ID: 23140793
    [Abstract] [Full Text] [Related]

  • 36. Familial Early-Onset Paget's Disease of Bone Associated with a Novel hnRNPA2B1 Mutation.
    Qi X, Pang Q, Wang J, Zhao Z, Wang O, Xu L, Mao J, Jiang Y, Li M, Xing X, Yu W, Asan, Xia W.
    Calcif Tissue Int; 2017 Aug; 101(2):159-169. PubMed ID: 28389692
    [Abstract] [Full Text] [Related]

  • 37. Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.
    Nakatsuka K, Nishizawa Y, Ralston SH.
    J Bone Miner Res; 2003 Aug; 18(8):1381-5. PubMed ID: 12929927
    [Abstract] [Full Text] [Related]

  • 38. [Cytokines in bone diseases. Osteoprotegerin and juvenile Paget's disease].
    Hosogane N, Miyamoto T.
    Clin Calcium; 2010 Oct; 20(10):1540-4. PubMed ID: 20890037
    [Abstract] [Full Text] [Related]

  • 39. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
    Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A.
    Neurology; 2005 Oct 25; 65(8):1304-5. PubMed ID: 16247064
    [Abstract] [Full Text] [Related]

  • 40. Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family.
    Ke YH, Yue H, He JW, Liu YJ, Zhang ZL.
    Acta Pharmacol Sin; 2009 Aug 25; 30(8):1204-10. PubMed ID: 19578385
    [Abstract] [Full Text] [Related]

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