<i>MAPT</i> Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family-Reference-Cited by-同舟云学术

MAPT Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family

Published:2022-01-31 Issue:5 Volume:29 Page:1529-1533
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Villa Cristina¹^ORCID,Rossi Giacomina¹^ORCID,Bizzozero Ilaria¹,Prioni Sara²^ORCID,Boiocchi Chiara¹^ORCID,Agosta Federica³⁴⁵^ORCID,Canu Elisa⁴^ORCID,Filippi Massimo³⁴⁵⁶⁷^ORCID,Giaccone Giorgio¹^ORCID,Caroppo Paola¹^ORCID

Affiliation:

1. Neurology V and Neuropathology Unit IRCCS Foundation Carlo Besta Neurological Institute Milan Italy

2. Clinical Neuropsychology Unit IRCCS Foundation Carlo Besta Neurological Institute Milan Italy

3. Neurology Unit IRCCS San Raffaele Scientific Institute Milan Italy

4. Neuroimaging Research Unit Division of Neuroscience IRCCS San Raffaele Scientific Institute Milan Italy

5. Vita‐Salute San Raffaele University Milan Italy

6. Unit of Neurorehabilitation IRCCS San Raffaele Scientific Institute Milan Italy

7. Neurophysiology Service IRCCS San Raffaele Scientific Institute Milan Italy

Funder

H2020 European Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15250

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3. A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease

4. Frontotemporal dementia with Pick‐type histology associated with Q336R mutation in the tau gene

5. An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies

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1. Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review;Frontiers in Bioscience-Landmark;2024-01-16

2. Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort;Frontiers in Aging Neuroscience;2022-12-08