Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. - Wikidata - awgldk - TriplyDB

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

http://www.wikidata.org/entity/Q51967426

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The genetics and neuropathology of frontotemporal lobar degeneration Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry Mechanisms of granulin deficiency: lessons from cellular and animal models Parkinsonian syndrome in familial frontotemporal dementia Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency Frontotemporal Dementia.Language, executive function and social cognition in the diagnosis of frontotemporal dementia syndromes.Temporoparietal hypometabolism in frontotemporal lobar degeneration and associated imaging diagnostic errors.A thorough assessment of benign genetic variability in GRN and MAPT.Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia.Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.Progressive logopenic/phonological aphasia: erosion of the language network.Clinical phenotypes and genetic biomarkers of FTLD.An algorithm for genetic testing of frontotemporal lobar degeneration Genetics of frontotemporal lobar degeneration Progranulin gene delivery protects dopaminergic neurons in a mouse model of Parkinson's disease.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.Psychotic symptoms in frontotemporal dementia: a diagnostic dilemma?Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.The non-fluent/agrammatic variant of primary progressive aphasia.Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.Amyloid in dementia associated with familial FTLD: not an innocent bystander.Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.Novel GRN Mutations in Patients with Corticobasal Syndrome Update on frontotemporal dementia.Progranulin: an emerging target for FTLD therapies.Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?Progranulin mutations as risk factors for Alzheimer disease Serum progranulin concentrations may be associated with macrophage infiltration into omental adipose tissue.Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN Update on recent molecular and genetic advances in frontotemporal lobar degeneration.Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

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P2860

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

http://www.wikidata.org/entity/Q51967426

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Agnès Camuzat

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Alexis Brice

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Anne Rovelet-Lecrux

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Bruno Dubois

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Christian Meyrignac

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Dominique Campion

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Eric Guedj

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Fabienne Clot

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Florence Pasquier

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French research network on FTD/FTD-MND

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P2860

Progranulin in frontotemporal lobar degeneration and neuroinflammation

“Mini-mental state”

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

The evolution and pathology of frontotemporal dementia

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

The neuropathology and clinical phenotype of FTD with progranulin mutations

Neocortical and hippocampal glucose hypometabolism following neurotoxic lesions of the entorhinal and perirhinal cortices in the non-human primate as shown by PET. Implications for Alzheimer's disease.

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732-746

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10.1093/BRAIN/AWN012

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Pt 3

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131

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Christine Van Broeckhoven

Jean-Charles Lambert

Didier Hannequin

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2008-02-01T00:00:00Z

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5605977

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