Literature DB >> 24703252

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

Andrea Mignarri1, Stefania Battistini1, Maria Luigia Tomai Pitinca2, Lucia Monti3, Luca Burroni4, Federica Ginanneschi1, Claudia Ricci1, Antonio Bavazzano5, Antonio Federico1, Gabriella Restagno6, Maria Teresa Dotti7.   

Abstract

Entities:  

Keywords:  C9ORF72; Frontotemporal lobar degeneration (FTLD); Primary non-fluent aphasia (PNFA); Progranulin (GRN)

Mesh：

Substances：

Year:  2014        PMID： 24703252     DOI： 10.1016/j.jns.2014.03.030

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  5 in total

Review 1.  Genetic testing in dementia - utility and clinical strategies.

Authors:  Carolin A M Koriath; Joanna Kenny; Natalie S Ryan; Jonathan D Rohrer; Jonathan M Schott; Henry Houlden; Nick C Fox; Sarah J Tabrizi; Simon Mead
Journal:  Nat Rev Neurol       Date:  2020-11-09       Impact factor: 42.937

2.  The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.

Authors:  Fermin Moreno; Begoña Indakoetxea; Myriam Barandiaran; María Cristina Caballero; Ana Gorostidi; Francesc Calafell; Alazne Gabilondo; Mikel Tainta; Miren Zulaica; José F Martí Massó; Adolfo López de Munain; Pascual Sánchez-Juan; Suzee E Lee
Journal:  PLoS One       Date:  2017-06-08       Impact factor: 3.240

Review 3.  Frontotemporal Dementia and Late-Onset Bipolar Disorder: The Many Directions of a Busy Road.

Authors:  Mari N Maia da Silva; Fábio Henrique de Gobbi Porto; Pedro Maranhão Gomes Lopes; Catarina Sodré de Castro Prado; Norberto Anízio Ferreira Frota; Candida Helena Lopes Alves; Gilberto Sousa Alves
Journal:  Front Psychiatry       Date:  2021-12-02       Impact factor: 4.157

4.  G-quadruplex structures formed by expanded hexanucleotide repeat RNA and DNA from the neurodegenerative disease-linked C9orf72 gene efficiently sequester and activate heme.

Authors:  Jason C Grigg; Nisreen Shumayrikh; Dipankar Sen
Journal:  PLoS One       Date:  2014-09-10       Impact factor: 3.240

5.  Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Authors:  Lucia V Schottlaender; James M Polke; Helen Ling; Nicola D MacDoanld; Arianna Tucci; Tina Nanji; Alan Pittman; Rohan de Silva; Janice L Holton; Tamas Revesz; Mary G Sweeney; Andy B Singleton; Andrew J Lees; Kailash P Bhatia; Henry Houlden
Journal:  Neurobiol Aging       Date:  2014-08-27       Impact factor: 4.673
  5 in total

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