Literature DB >> 15940384

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

Giorgio Giaccone, Giacomina Rossi, Laura Farina, Gabriella Marcon, Giuseppe Di Fede, Marcella Catania, Michela Morbin, Leonardo Sacco, Orso Bugiani, Fabrizio Tagliavini.   

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Year:  2005        PMID： 15940384     DOI： 10.1007/s00415-005-0879-8

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

Authors:  J C van Swieten; M Stevens; S M Rosso; P Rizzu; M Joosse; I de Koning; W Kamphorst; R Ravid; M G Spillantini; P Heutink
Journal:  Ann Neurol       Date:  1999-10       Impact factor: 10.422

2.  The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy.

Authors:  Jovanka Ostojic; Christina Elfgren; Ulla Passant; Karin Nilsson; Lars Gustafson; Lars Lannfelt; Susanne Froelich Fabre
Journal:  Dement Geriatr Cogn Disord       Date:  2004       Impact factor: 2.959

3.  Tau is a candidate gene for chromosome 17 frontotemporal dementia.

Authors:  P Poorkaj; T D Bird; E Wijsman; E Nemens; R M Garruto; L Anderson; A Andreadis; W C Wiederholt; M Raskind; G D Schellenberg
Journal:  Ann Neurol       Date:  1998-06       Impact factor: 10.422

Review 4.  Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria.

Authors:  D Neary; J S Snowden; L Gustafson; U Passant; D Stuss; S Black; M Freedman; A Kertesz; P H Robert; M Albert; K Boone; B L Miller; J Cummings; D F Benson
Journal:  Neurology       Date:  1998-12       Impact factor: 9.910

Review 5.  Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants.

Authors:  N L Foster; K Wilhelmsen; A A Sima; M Z Jones; C J D'Amato; S Gilman
Journal:  Ann Neurol       Date:  1997-06       Impact factor: 10.422

6.  Autosomal dominant dementia with widespread neurofibrillary tangles.

Authors:  L A Reed; T J Grabowski; M L Schmidt; J C Morris; A Goate; A Solodkin; G W Van Hoesen; R L Schelper; C J Talbot; M A Wragg; J Q Trojanowski
Journal:  Ann Neurol       Date:  1997-10       Impact factor: 10.422

7.  Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

Authors:  J R Murrell; M G Spillantini; P Zolo; M Guazzelli; M J Smith; M Hasegawa; F Redi; R A Crowther; P Pietrini; B Ghetti; M Goedert
Journal:  J Neuropathol Exp Neurol       Date:  1999-12       Impact factor: 3.685

8.  Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

Authors:  M Hutton; C L Lendon; P Rizzu; M Baker; S Froelich; H Houlden; S Pickering-Brown; S Chakraverty; A Isaacs; A Grover; J Hackett; J Adamson; S Lincoln; D Dickson; P Davies; R C Petersen; M Stevens; E de Graaff; E Wauters; J van Baren; M Hillebrand; M Joosse; J M Kwon; P Nowotny; L K Che; J Norton; J C Morris; L A Reed; J Trojanowski; H Basun; L Lannfelt; M Neystat; S Fahn; F Dark; T Tannenberg; P R Dodd; N Hayward; J B Kwok; P R Schofield; A Andreadis; J Snowden; D Craufurd; D Neary; F Owen; B A Oostra; J Hardy; A Goate; J van Swieten; D Mann; T Lynch; P Heutink
Journal:  Nature       Date:  1998-06-18       Impact factor: 49.962

9.  A neuropsychological instrument adding to the description of patients with suspected cortical dementia: the Milan overall dementia assessment.

Authors:  M Brazzelli; E Capitani; S Della Sala; H Spinnler; M Zuffi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-12       Impact factor: 10.154

10.  Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.

Authors:  M G Spillantini; J R Murrell; M Goedert; M R Farlow; A Klug; B Ghetti
Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-23       Impact factor: 11.205
  10 in total
  4 in total

1.  FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

Authors:  Pawel Tacik; Michael A DeTure; Yari Carlomagno; Wen-Lang Lin; Melissa E Murray; Matthew C Baker; Keith A Josephs; Bradley F Boeve; Zbigniew K Wszolek; Neill R Graff-Radford; Joseph E Parisi; Leonard Petrucelli; Rosa Rademakers; Richard S Isaacson; Kenneth M Heilman; Ronald C Petersen; Dennis W Dickson; Naomi Kouri
Journal:  Brain Pathol       Date:  2016-10-05       Impact factor: 6.508

Review 2.  Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Authors:  B Ghetti; A L Oblak; B F Boeve; K A Johnson; B C Dickerson; M Goedert
Journal:  Neuropathol Appl Neurobiol       Date:  2015-02       Impact factor: 8.090

3.  Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia.

Authors:  Sergi Borrego-Écija; Anna Antonell; Joan Anton Puig-Butillé; Inmaculada Pericot; Carme Prat-Bravo; Maria Teresa Abellan-Vidal; Javier Mallada; Jaume Olives; Neus Falgàs; Rafael Oliva; Albert Lladó; Raquel Sánchez-Valle
Journal:  Ann Clin Transl Neurol       Date:  2019-07-17       Impact factor: 4.511

Review 4.  Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.

Authors:  Paulo J da Costa; Malika Hamdane; Luc Buée; Franck Martin
Journal:  Biomedicines       Date:  2022-01-23
  4 in total

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