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

Published on Jun 8, 2017in PLOS ONE 2.78
· DOI :10.1371/journal.pone.0178093
Fermin Moreno13
Estimated H-index: 13
Begoña Indakoetxea9
Estimated H-index: 9
+ 10 AuthorsSuzee E. Lee17
Estimated H-index: 17
  • References (37)
  • Citations (1)
Published on Dec 1, 2016in Acta neuropathologica communications
Anthony Papegaey2
Estimated H-index: 2
(university of lille),
Sabiha Eddarkaoui10
Estimated H-index: 10
(university of lille)
+ 13 AuthorsAlexis Brice94
Estimated H-index: 94
Reduction of Tau protein expression was described in 2003 by Zhukareva et al. in a variant of frontotemporal lobar degeneration (FTLD) referred to as diagnosis of dementia lacking distinctive histopathology, then re-classified as FTLD with ubiquitin inclusions. However, the analysis of Tau expression in FTLD has not been reconsidered since then. Knowledge of the molecular basis of protein aggregates and genes that are mutated in the FTLD spectrum would enable to determine whether the “Tau-less” ...
9 Citations Source Cite
Published on Sep 1, 2016in Stem cell reports 5.50
M. Catarina Silva4
Estimated H-index: 4
(Harvard University),
Chialin Cheng4
Estimated H-index: 4
(Harvard University)
+ 14 AuthorsGiovanni Coppola59
Estimated H-index: 59
(Semel Institute for Neuroscience and Human Behavior)
Frontotemporal dementia (FTD) and other tauopathies characterized by focal brain neurodegeneration and pathological accumulation of proteins are commonly associated with tau mutations. However, the mechanism of neuronal loss is not fully understood. To identify molecular events associated with tauopathy, we studied induced pluripotent stem cell (iPSC)-derived neurons from individuals carrying the tau-A152T variant. We highlight the potential of in-depth phenotyping of human neuronal cell models ...
26 Citations Source Cite
Published on Sep 29, 2015in Journal of Alzheimer's Disease 3.70
Pau Pastor31
Estimated H-index: 31
Fermin Moreno13
Estimated H-index: 13
+ 35 AuthorsEva Carro33
Estimated H-index: 33
Spanish Ministry of Science and Innovation SAF 2006-10126 (2006–2009) and SAF2010-22329-C02-01 (2011–2013) to P.P and by the UTE project FIMA to P.P. Grants from the Ministry of Science (SAF2010-15558) and CIBERNED. Agust´in Ruiz is supported by grant PI13/02434 (Accion Estrategica en Salud. Instituto de Salud Carlos III. Ministerio de Economia y Competitividad, Spain). Grant: Consolider (CSD2010-00045).
15 Citations Source Cite
Published on Jan 1, 2015in Annals of Human Genetics 1.32
José Félix Martí Massó13
Estimated H-index: 13
Juan J. Zarranz23
Estimated H-index: 23
+ 1 AuthorsAdolfo López de Munain33
Estimated H-index: 33
uzcoa 6 BioCruces Institute, Baracaldo, Vizcaya 7 JAKIUNDE, Academia de las Ciencias, de las Artes y de las Letras Summary In the molecular era, the study of neurogenetic disorders in relict populations provides an opportunity to discover new genes by linkage studies and to establish clearer genotype-phenotype correlations in large cohorts of individuals carrying the same mutation. The Basque people are one of the most ancient populations living in Europe and represent an excellent resource for ...
3 Citations Source Cite
Published on Dec 1, 2014in Neuropathology and Applied Neurobiology 6.88
Andrew Robinson21
Estimated H-index: 21
(University of Manchester),
Jennifer C. Thompson32
Estimated H-index: 32
(University of Manchester)
+ 5 AuthorsDavid Mann73
Estimated H-index: 73
(University of Manchester)
INTRODUCTION: Frontotemporal lobar degeneration (FTLD) is classified mainly into FTLD-tau and FTLD-TDP according to the protein present within inclusion bodies. While such a classification implies only a single type of protein should be present, recent studies have demonstrated dual tau and TDP-43 proteinopathy can occur, particularly in inherited FTLD. METHODS: We therefore investigated 33 patients with FTLD-tau (including 9 with MAPT mutation) for TDP-43 pathological changes, and 45 patients w...
13 Citations Source Cite
Published on Jun 1, 2014in Neuropathology and Applied Neurobiology 6.88
Tammaryn Lashley37
Estimated H-index: 37
(UCL Institute of Neurology),
Jonathan D. Rohrer48
Estimated H-index: 48
(UCL Institute of Neurology)
+ 6 AuthorsTamas Revesz76
Estimated H-index: 76
(UCL Institute of Neurology)
Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease and is the second most common form of young onset dementia after Alzheimer's disease (AD). An autosomal dominant pattern of inheritance is present in around 25-50% of FTLD cases indicating a strong genetic component. Major pathogenic mutations of FTLD have been demonstrated independently in the progranulin (GRN) gene and the C9orf72 hexanucleotide expansion repeat. In this study we present a family that have been...
28 Citations Source Cite
Published on Jun 1, 2014in Journal of the Neurological Sciences 2.65
Andrea Mignarri12
Estimated H-index: 12
(UNISI: University of Siena),
Stefania Battistini19
Estimated H-index: 19
(UNISI: University of Siena)
+ 8 AuthorsGabriella Restagno33
Estimated H-index: 33
10 Citations Source Cite
Published on Jan 1, 2014in Alzheimer Disease & Associated Disorders 2.38
Anna-Lotta Kaivorinne6
Estimated H-index: 6
Estimated H-index: 2
+ 4 AuthorsAnne M. Remes26
Estimated H-index: 26
18 Citations Source Cite
Published on Oct 8, 2013in Neurology 8.69
Marka van Blitterswijk29
Estimated H-index: 29
(Mayo Clinic),
Matt Baker67
Estimated H-index: 67
(Mayo Clinic)
+ 39 AuthorsNicola J. Rutherford26
Estimated H-index: 26
(Mayo Clinic)
Objective: To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 ( C9ORF72 ), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry mutations in genes known to be associated with a spectrum of neurodegenerative diseases. Methods: A 2-step protocol, with a fluorescent PCR and a repeat-primed PCR, was used to determine the presence...
66 Citations Source Cite
Published on Sep 1, 2013in Parkinsonism & Related Disorders 4.36
Jonathan Graff-Radford21
Estimated H-index: 21
(Mayo Clinic),
Jennifer Lynn Whitwell59
Estimated H-index: 59
+ 1 AuthorsKeith Anthony Josephs74
Estimated H-index: 74
8 Citations Source Cite
Cited By1
Juan Joseph Young1
Estimated H-index: 1
Mallika Lavakumar3
Estimated H-index: 3
+ 2 AuthorsRajesh R. Tampi17
Estimated H-index: 17
Background:Frontotemporal dementia (FTD) describes a cluster of neurocognitive syndromes that present with impairment of executive functioning, changes in behavior, and a decrease in language proficiency. FTD is the second most common form of dementia in those younger than 65 years and is expected to increase in prevalence as the population ages. This goal in our review is to describe advances in the understanding of neurobiological pathology, classification, assessment, and treatment of FTD syn...
14 Citations Source Cite