Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
AS Chen-Plotkin, M Martinez-Lage… - Archives of …, 2011 - jamanetwork.com
… Excluding this mutation from our analyses of clinical features of GRN+ FTLD-TDP did not
affect our finding that patients with GRN+ FTLD-TDP are younger at onset of the disease vs …
affect our finding that patients with GRN+ FTLD-TDP are younger at onset of the disease vs …
The neuropathology and clinical phenotype of FTD with progranulin mutations
IRA Mackenzie - Acta neuropathologica, 2007 - Springer
… Marked variation in the disease course and clinical features are common, not only between
families with different mutations, but also within individual families. This degree of clinical …
families with different mutations, but also within individual families. This degree of clinical …
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
JC Van Swieten, P Heutink - The Lancet Neurology, 2008 - thelancet.com
… whether the loss of progranulin leads to the accumulation of TARDBP. In this Rapid Review,
we focus on the clinical and pathological phenotypes associated with mutations in GRN, …
we focus on the clinical and pathological phenotypes associated with mutations in GRN, …
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations
VM Van Deerlin, EMC Wood, P Moore… - Archives of …, 2007 - jamanetwork.com
… in GRN on chromosome 17 have been associated clinically with an FTD syndrome and
FTLD-U pathologic characteristics. There are some clinical features that seem to distinguish …
FTLD-U pathologic characteristics. There are some clinical features that seem to distinguish …
Progranulin gene mutation with an unusual clinical and neuropathologic presentation
C Wider, RJ Uitti, ZK Wszolek, JY Fang… - … : official journal of the …, 2008 - Wiley Online Library
… , presumably secondary to PGRN mutations, and prior to overt … of clinical and pathological
phenotypes in PGRN mutation … PGRN mutation, even when associated with clinical features …
phenotypes in PGRN mutation … PGRN mutation, even when associated with clinical features …
Progranulin mutations as risk factors for Alzheimer disease
DC Perry, M Lehmann, JS Yokoyama… - JAMA …, 2013 - jamanetwork.com
… clinical syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients
with progranulin gene mutations … of 2 unrelated patients with progranulin mutations at the …
with progranulin gene mutations … of 2 unrelated patients with progranulin mutations at the …
Prominent phenotypic variability associated with mutations in Progranulin
BJ Kelley, W Haidar, BF Boeve, M Baker… - Neurobiology of …, 2009 - Elsevier
… Therefore, we suggest that TDP-43 immunohistochemistry be considered in cases with
clinical features of FTD, but pathological diagnosis other than FTLD. In two cases with striking …
clinical features of FTD, but pathological diagnosis other than FTLD. In two cases with striking …
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features
CM Karch, L Ezerskiy, V Redaelli, AR Giovagnoli… - Neurobiology of …, 2016 - Elsevier
… in detail the clinical data of the patients carrying the 3 GRN missense mutations and the …
In conclusion, the clinical and functional findings strongly suggest that GRN C105Y is likely …
In conclusion, the clinical and functional findings strongly suggest that GRN C105Y is likely …
… of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
SM Pickering-Brown, S Rollinson, D Du Plessis… - Brain, 2008 - academic.oup.com
… mutations in tau (MAPT) and progranulin (PGRN) genes. All FTLD patients had undergone
longitudinal neuropsychological and clinical … Six different PGRN mutations were found in 13 (6…
longitudinal neuropsychological and clinical … Six different PGRN mutations were found in 13 (6…
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
JB Leverenz, CE Yu, TJ Montine, E Steinbart… - Brain, 2007 - academic.oup.com
… Mutations in the progranulin (GRN) gene have recently been … We performed a clinical,
neuropathological and molecular … mutation (c.709-2, A>G) in two families with notable clinical …
neuropathological and molecular … mutation (c.709-2, A>G) in two families with notable clinical …
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