Literature DB >> 23692129

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.

E Gelpi1, J van der Zee, A Turon Estrada, C Van Broeckhoven, R Sanchez-Valle.   

Abstract

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Year:  2014        PMID： 23692129     DOI： 10.1111/nan.12063

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  24 in total

Review 1.  Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Suvi Häkkinen; Stephanie A Chu; Suzee E Lee
Journal:  Neurobiol Dis       Date:  2020-09-02       Impact factor: 5.996

Review 2.  Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.

Authors:  Gianluca Floris; Giuseppe Borghero; Antonino Cannas; Francesca Di Stefano; Maria R Murru; Daniela Corongiu; Stefania Cuccu; Stefania Tranquilli; Maria V Cherchi; Alessandra Serra; Gianluigi Loi; Maria G Marrosu; Adriano Chiò; Francesco Marrosu
Journal:  J Neurol       Date:  2014-11-20       Impact factor: 4.849

3.  Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies.

Authors:  Francesca Caso; Federica Agosta; Giuseppe Magnani; Rosalinda Cardamone; Valentina Borghesani; Zachary Miller; Nilo Riva; Renaud La Joie; Giovanni Coppola; Lea T Grinberg; William W Seeley; Bruce L Miller; Maria Luisa Gorno-Tempini; Massimo Filippi
Journal:  Brain Imaging Behav       Date:  2020-04       Impact factor: 3.978

Review 4.  Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.

Authors:  Pawel Tacik; Monica Sanchez-Contreras; Rosa Rademakers; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Neurodegener Dis       Date:  2015-11-10       Impact factor: 2.977

5.  Classification of diseases with accumulation of Tau protein.

Authors:  Gabor G Kovacs; Bernardino Ghetti; Michel Goedert
Journal:  Neuropathol Appl Neurobiol       Date:  2022-02-09       Impact factor: 6.250

6.  A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques.

Authors:  Fermin Moreno; Gil D Rabinovici; Anna Karydas; Zachary Miller; Sandy Chan Hsu; Andrea Legati; Jamie Fong; Daniel Schonhaut; Hermann Esselmann; Christa Watson; Melanie L Stephens; Joel Kramer; Jens Wiltfang; William W Seeley; Bruce L Miller; Giovanni Coppola; Lea Tenenholz Grinberg
Journal:  Acta Neuropathol Commun       Date:  2015-04-03       Impact factor: 7.801

7.  Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Lisa J Oyston; Stephanie Ubiparipovic; Lauren Fitzpatrick; Marianne Hallupp; Lauren M Boccanfuso; John B Kwok; Carol Dobson-Stone
Journal:  Sci Rep       Date:  2021-07-21       Impact factor: 4.379

8.  Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.

Authors:  Merel O Mol; Sebastiaan W R Nijmeijer; Jeroen G J van Rooij; Resie M L van Spaendonk; Yolande A L Pijnenburg; Sven J van der Lee; Rick van Minkelen; Laura Donker Kaat; Annemieke J M Rozemuller; Mark R Janse van Mantgem; Wouter van Rheenen; Michael A van Es; Jan H Veldink; Frederic A M Hennekam; Meike Vernooij; John C van Swieten; Petra E Cohn-Hokke; Harro Seelaar; Elise G P Dopper
Journal:  J Neurol Neurosurg Psychiatry       Date:  2021-01-15       Impact factor: 10.154

Review 9.  Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.

Authors:  Alberto Benussi; Alessandro Padovani; Barbara Borroni
Journal:  Front Aging Neurosci       Date:  2015-09-01       Impact factor: 5.750

10.  Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Authors:  Julie van der Zee; Tim Van Langenhove; Gabor G Kovacs; Lubina Dillen; William Deschamps; Sebastiaan Engelborghs; Radoslav Matěj; Mathieu Vandenbulcke; Anne Sieben; Bart Dermaut; Katrien Smets; Philip Van Damme; Céline Merlin; Annelies Laureys; Marleen Van Den Broeck; Maria Mattheijssens; Karin Peeters; Luisa Benussi; Giuliano Binetti; Roberta Ghidoni; Barbara Borroni; Alessandro Padovani; Silvana Archetti; Pau Pastor; Cristina Razquin; Sara Ortega-Cubero; Isabel Hernández; Mercè Boada; Agustín Ruiz; Alexandre de Mendonça; Gabriel Miltenberger-Miltényi; Frederico Simões do Couto; Sandro Sorbi; Benedetta Nacmias; Silvia Bagnoli; Caroline Graff; Huei-Hsin Chiang; Håkan Thonberg; Robert Perneczky; Janine Diehl-Schmid; Panagiotis Alexopoulos; Giovanni B Frisoni; Christian Bonvicini; Matthis Synofzik; Walter Maetzler; Jennifer Müller vom Hagen; Ludger Schöls; Tobias B Haack; Tim M Strom; Holger Prokisch; Oriol Dols-Icardo; Jordi Clarimón; Alberto Lleó; Isabel Santana; Maria Rosário Almeida; Beatriz Santiago; Michael T Heneka; Frank Jessen; Alfredo Ramirez; Raquel Sanchez-Valle; Albert Llado; Ellen Gelpi; Stayko Sarafov; Ivailo Tournev; Albena Jordanova; Eva Parobkova; Gian Maria Fabrizi; Silvia Testi; Eric Salmon; Thomas Ströbel; Patrick Santens; Wim Robberecht; Peter De Jonghe; Jean-Jacques Martin; Patrick Cras; Rik Vandenberghe; Peter Paul De Deyn; Marc Cruts; Kristel Sleegers; Christine Van Broeckhoven
Journal:  Acta Neuropathol       Date:  2014-06-05       Impact factor: 17.088
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