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Literature DB >> 16362832

Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability.

W Casseron, J P Azulay, E Guedj, J L Gastaut, J Pouget.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 2005 PMID： 16362832 DOI： 10.1007/s00415-005-0880-2

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

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6 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. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

Authors: O Bugiani; J R Murrell; G Giaccone; M Hasegawa; G Ghigo; M Tabaton; M Morbin; A Primavera; F Carella; C Solaro; M Grisoli; M Savoiardo; M G Spillantini; F Tagliavini; M Goedert; B Ghetti
Journal: J Neuropathol Exp Neurol Date: 1999-06 Impact factor: 3.685

3. A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.

Authors: M Yasuda; K Yokoyama; T Nakayasu; Y Nishimura; M Matsui; T Yokoyama; K Miyoshi; C Tanaka
Journal: Neurology Date: 2000-10-24 Impact factor: 9.910

4. Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.

Authors: Alexander Lossos; Avinoam Reches; Aya Gal; Joel P Newman; Dov Soffer; John Moshe Gomori; Moshe Boher; Dana Ekstein; Iftah Biran; Zeev Meiner; Oded Abramsky; Hanna Rosenmann
Journal: J Neurol Date: 2003-06 Impact factor: 4.849

5. FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.

Authors: A D Sperfeld; M B Collatz; H Baier; M Palmbach; A Storch; J Schwarz; K Tatsch; S Reske; M Joosse; P Heutink; A C Ludolph
Journal: Ann Neurol Date: 1999-11 Impact factor: 10.422

6. The genetic and pathological classification of familial frontotemporal dementia.

Authors: H R Morris; M N Khan; J C Janssen; J M Brown; J Perez-Tur; M Baker; M Ozansoy; J Hardy; M Hutton; N W Wood; A J Lees; T Revesz; P Lantos; M N Rossor
Journal: Arch Neurol Date: 2001-11

6 in total

10 in total

1. Alzheimer's disease-like tau neuropathology leads to memory deficits and loss of functional synapses in a novel mutated tau transgenic mouse without any motor deficits.

Authors: Katharina Schindowski; Alexis Bretteville; Karelle Leroy; Séverine Bégard; Jean-Pierre Brion; Malika Hamdane; Luc Buée
Journal: Am J Pathol Date: 2006-08 Impact factor: 4.307

2. Potential neuroprotective strategies against tauopathy.

Authors: Jeanna M Wheeler; Chris R Guthrie; Brian C Kraemer
Journal: Biochem Soc Trans Date: 2012-08 Impact factor: 5.407

3. A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.

Authors: Cinzia Coppola; Giacomina Rossi; Anna Maria Barbarulo; Giuseppe Di Fede; Carolina Foglia; Elena Piccoli; Giuseppe Piscosquito; Dario Saracino; Fabrizio Tagliavini; Roberto Cotrufo
Journal: Neurol Sci Date: 2011-06-22 Impact factor: 3.307

4. Phenotypic variation of autosomal-dominant corticobasal degeneration.

Authors: Hans H Jung; Juliane Bremer; Johannes Streffer; Kanwar Virdee; Maria Grazia Spillantini; R Anthony Crowther; Peter Brugger; Christine Van Broeckhoven; Adriano Aguzzi; Markus Tolnay
Journal: Eur Neurol Date: 2012-01-18 Impact factor: 1.710

Review 5. 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

10. Long-Term Hydromethylthionine Treatment Is Associated with Delayed Clinical Onset and Slowing of Cerebral Atrophy in a Pre-Symptomatic P301S MAPT Mutation Carrier.

Authors: Peter Bentham; Roger T Staff; Bjoern O Schelter; Helen Shiells; Charles R Harrington; Claude M Wischik
Journal: J Alzheimers Dis Date: 2021 Impact factor: 4.472