Literature DB >> 16263051

Progress in the genetics of progressive supranuclear palsy: tau gene and beyond.

Vincenzo Bonifati1.   

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Year:  2005        PMID： 16263051     DOI： 10.1007/s11910-005-0027-y

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


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  14 in total

1.  Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

Authors:  P Pastor; E Pastor; C Carnero; R Vela; T García; G Amer; E Tolosa; R Oliva
Journal:  Ann Neurol       Date:  2001-02       Impact factor: 10.422

Review 2.  Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms.

Authors:  V Bonifati; B A Oostra; P Heutink
Journal:  Cell Mol Life Sci       Date:  2004-07       Impact factor: 9.261

3.  A common inversion under selection in Europeans.

Authors:  Hreinn Stefansson; Agnar Helgason; Gudmar Thorleifsson; Valgerdur Steinthorsdottir; Gisli Masson; John Barnard; Adam Baker; Aslaug Jonasdottir; Andres Ingason; Vala G Gudnadottir; Natasa Desnica; Andrew Hicks; Arnaldur Gylfason; Daniel F Gudbjartsson; Gudrun M Jonsdottir; Jesus Sainz; Kari Agnarsson; Birgitta Birgisdottir; Shyamali Ghosh; Adalheidur Olafsdottir; Jean-Baptiste Cazier; Kristleifur Kristjansson; Michael L Frigge; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Augustine Kong; Kari Stefansson
Journal:  Nat Genet       Date:  2005-01-16       Impact factor: 38.330

Review 4.  Mutations causing neurodegenerative tauopathies.

Authors:  Michel Goedert; Ross Jakes
Journal:  Biochim Biophys Acta       Date:  2005-01-03

5.  Clinical genetics of familial progressive supranuclear palsy.

Authors:  A Rojo; R S Pernaute; A Fontán; P G Ruíz; J Honnorat; T Lynch; S Chin; I Gonzalo; A Rábano; A Martínez; S Daniel; P Pramstaller; H Morris; N Wood; A Lees; C Tabernero; T Nyggard; A C Jackson; A Hanson; J G de Yébenes; P Pramsteller
Journal:  Brain       Date:  1999-07       Impact factor: 13.501

6.  Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18fluorodeoxyglucose positron emission tomography.

Authors:  P Piccini; J de Yebenez; A J Lees; R Ceravolo; N Turjanski; P Pramstaller; D J Brooks
Journal:  Arch Neurol       Date:  2001-11

Review 7.  Progressive supranuclear palsy: where are we now?

Authors:  David J Burn; Andrew J Lees
Journal:  Lancet Neurol       Date:  2002-10       Impact factor: 44.182

8.  An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

Authors:  Parvoneh Poorkaj; Nancy A Muma; Victoria Zhukareva; Elizabeth J Cochran; Kathleen M Shannon; Howard Hurtig; William C Koller; Thomas D Bird; John Q Trojanowski; Virginia M-Y Lee; Gerard D Schellenberg
Journal:  Ann Neurol       Date:  2002-10       Impact factor: 10.422

Review 9.  Familial progressive supranuclear palsy. Description of a pedigree and review of the literature.

Authors:  J G de Yébenes; J L Sarasa; S E Daniel; A J Lees
Journal:  Brain       Date:  1995-10       Impact factor: 13.501

10.  Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.

Authors:  A M Pittman; A J Myers; P Abou-Sleiman; H C Fung; M Kaleem; L Marlowe; J Duckworth; D Leung; D Williams; L Kilford; N Thomas; C M Morris; D Dickson; N W Wood; J Hardy; A J Lees; R de Silva
Journal:  J Med Genet       Date:  2005-03-25       Impact factor: 6.318
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