Literature DB >> 31073747

Focal and Osteosclerotic Bone Diseases.

Stuart H Ralston1, Rene Rizzoli2.   

Abstract

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Year:  2019        PMID： 31073747     DOI： 10.1007/s00223-019-00556-7

Source DB:  PubMed          Journal:  Calcif Tissue Int        ISSN： 0171-967X            Impact factor:   4.333


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  6 in total

1.  APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).

Authors:  Sarju G Mehta; Giles D J Watts; Jennifer L Adamson; Mike Hutton; Geanie Umberger; Shuling Xiong; Sheena Ramdeen; Mark A Lovell; Virginia E Kimonis; Charles D Smith
Journal:  Genet Med       Date:  2007-01       Impact factor: 8.822

Review 2.  Rare Inherited forms of Paget's Disease and Related Syndromes.

Authors:  Stuart H Ralston; J Paul Taylor
Journal:  Calcif Tissue Int       Date:  2019-02-13       Impact factor: 4.333

3.  TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Authors:  YouJin Lee; Per Harald Jonson; Jaakko Sarparanta; Johanna Palmio; Mohona Sarkar; Anna Vihola; Anni Evilä; Tiina Suominen; Sini Penttilä; Marco Savarese; Mridul Johari; Marie-Christine Minot; David Hilton-Jones; Paul Maddison; Patrick Chinnery; Jens Reimann; Cornelia Kornblum; Torsten Kraya; Stephan Zierz; Carolyn Sue; Hans Goebel; Asim Azfer; Stuart H Ralston; Peter Hackman; Robert C Bucelli; J Paul Taylor; Conrad C Weihl; Bjarne Udd
Journal:  J Clin Invest       Date:  2018-02-19       Impact factor: 14.808

4.  Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Authors:  Giles D J Watts; Jill Wymer; Margaret J Kovach; Sarju G Mehta; Steven Mumm; Daniel Darvish; Alan Pestronk; Michael P Whyte; Virginia E Kimonis
Journal:  Nat Genet       Date:  2004-03-21       Impact factor: 38.330

Review 5.  Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline.

Authors:  Stuart H Ralston; Luis Corral-Gudino; Cyrus Cooper; Roger M Francis; William D Fraser; Luigi Gennari; Núria Guañabens; M Kassim Javaid; Robert Layfield; Terence W O'Neill; R Graham G Russell; Michael D Stone; Keith Simpson; Diana Wilkinson; Ruth Wills; M Carola Zillikens; Stephen P Tuck
Journal:  J Bone Miner Res       Date:  2019-02-25       Impact factor: 6.741

6.  Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

Authors:  Hong Joo Kim; Nam Chul Kim; Yong-Dong Wang; Emily A Scarborough; Jennifer Moore; Zamia Diaz; Kyle S MacLea; Brian Freibaum; Songqing Li; Amandine Molliex; Anderson P Kanagaraj; Robert Carter; Kevin B Boylan; Aleksandra M Wojtas; Rosa Rademakers; Jack L Pinkus; Steven A Greenberg; John Q Trojanowski; Bryan J Traynor; Bradley N Smith; Simon Topp; Athina-Soragia Gkazi; Jack Miller; Christopher E Shaw; Michael Kottlors; Janbernd Kirschner; Alan Pestronk; Yun R Li; Alice Flynn Ford; Aaron D Gitler; Michael Benatar; Oliver D King; Virginia E Kimonis; Eric D Ross; Conrad C Weihl; James Shorter; J Paul Taylor
Journal:  Nature       Date:  2013-03-03       Impact factor: 49.962
  6 in total

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