Literature DB >> 23483213

Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.

Pedro Braga-Neto, José Luiz Pedroso, Helena Alessi, Paulo Victor Sgobbi de Souza, Paulo Henrique Ferreira Bertolucci, Orlando Graziani Povoas Barsottini.   

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Year:  2013        PMID： 23483213     DOI： 10.1007/s00415-013-6879-1

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


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  16 in total

Review 1.  Early-onset familial Alzheimer's disease (EOFAD).

Authors:  Liyong Wu; Pedro Rosa-Neto; Ging-Yuek R Hsiung; A Dessa Sadovnick; Mario Masellis; Sandra E Black; Jianping Jia; Serge Gauthier
Journal:  Can J Neurol Sci       Date:  2012-07       Impact factor: 2.104

2.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Authors:  U Finckh; T Müller-Thomsen; U Mann; C Eggers; J Marksteiner; W Meins; G Binetti; A Alberici; C Hock; R M Nitsch; A Gal
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

Authors:  M Anheim; D Hannequin; C Boulay; C Martin; D Campion; C Tranchant
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-12       Impact factor: 10.154

4.  Cognitive repercussions of hereditary cerebellar disorders.

Authors:  Mario Manto; Thomas Lorivel
Journal:  Cortex       Date:  2009-05-18       Impact factor: 4.027

5.  The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

Authors:  David Wallon; Stéphane Rousseau; Anne Rovelet-Lecrux; Muriel Quillard-Muraine; Lucie Guyant-Maréchal; Olivier Martinaud; Jérémie Pariente; Michèle Puel; Adeline Rollin-Sillaire; Florence Pasquier; Isabelle Le Ber; Marie Sarazin; Bernard Croisile; Claire Boutoleau-Bretonnière; Catherine Thomas-Antérion; Claire Paquet; Olivier Moreaud; Audrey Gabelle; François Sellal; Mathilde Sauvée; Annie Laquerrière; Charles Duyckaerts; Marie-Bernadette Delisle; Nathalie Streichenberger; Béatrice Lannes; Thierry Frebourg; Didier Hannequin; Dominique Campion
Journal:  J Alzheimers Dis       Date:  2012       Impact factor: 4.472

6.  Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.

Authors:  Diego Sepulveda-Falla; Jakob Matschke; Christian Bernreuther; Christian Hagel; Berta Puig; Andres Villegas; Gloria Garcia; Julian Zea; Baltazar Gomez-Mancilla; Isidre Ferrer; Francisco Lopera; Markus Glatzel
Journal:  Brain Pathol       Date:  2011-01-27       Impact factor: 6.508

7.  Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

Authors:  Tobias Moehlmann; Edith Winkler; Xuefeng Xia; Dieter Edbauer; Jill Murrell; Anja Capell; Christoph Kaether; Hui Zheng; Bernardino Ghetti; Christian Haass; Harald Steiner
Journal:  Proc Natl Acad Sci U S A       Date:  2002-06-04       Impact factor: 11.205

8.  Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1.

Authors:  Y M Li; M Xu; M T Lai; Q Huang; J L Castro; J DiMuzio-Mower; T Harrison; C Lellis; A Nadin; J G Neduvelil; R B Register; M K Sardana; M S Shearman; A L Smith; X P Shi; K C Yin; J A Shafer; S J Gardell
Journal:  Nature       Date:  2000-06-08       Impact factor: 49.962

9.  Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Authors:  B Dermaut; S Kumar-Singh; C De Jonghe; M Cruts; A Löfgren; U Lübke; P Cras; R Dom; P P De Deyn; J J Martin; C Van Broeckhoven
Journal:  Brain       Date:  2001-12       Impact factor: 13.501

10.  A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings.

Authors:  Jungeun Kim; Eva Bagyinszky; Young Hee Chang; Gheeyoung Choe; Byung-Ok Choi; Seong Soo A An; Sangyun Kim
Journal:  Neurosci Lett       Date:  2012-10-06       Impact factor: 3.046
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  2 in total

Review 1.  Neurological update: dementia.

Authors:  A J Larner
Journal:  J Neurol       Date:  2014-02-06       Impact factor: 4.849

2.  A multi-expert ensemble system for predicting Alzheimer transition using clinical features.

Authors:  Mario Merone; Sebastian Luca D'Addario; Pierandrea Mirino; Francesca Bertino; Cecilia Guariglia; Rossella Ventura; Adriano Capirchio; Gianluca Baldassarre; Massimo Silvetti; Daniele Caligiore
Journal:  Brain Inform       Date:  2022-09-03
  2 in total

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