K. Josephs

Publications666
h-index95
Citations36,014
Highly Influential Citations1,930
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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
View on Elsevier
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.
TLDR
The revised criteria for behavioural variant frontotemporal dementia improve diagnostic accuracy compared with previously established criteria in a sample with known frontotmporal lobar degeneration and reflect the optimized diagnostic features, less restrictive exclusion features and a flexible structure that accommodates different initial clinical presentations.
View on PubMed
Criteria for the diagnosis of corticobasal degeneration
TLDR
Clinical CBD phenotypes and features were combined to create 2 sets of criteria: more specific clinical research criteria for probable CBD and broader criteria for possible CBD that are more inclusive but have a higher chance to detect other tau-based pathologies.
View on Wolters Kluwer
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria
TLDR
Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome.
View on Wiley
Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP
TLDR
Frontotemporal lobar degeneration, corticobasal degeneration (CBD), and progressive supranuclear palsy (PSP) have overlapping clinical features, and the prediction of tau-positive pathology from a CBD or PSP-like presentation is good, while the frontotem temporal dementia (FTD)-motor neuron disease syndrome almost certainly predicts motor neuron degeneration.
View on Publisher
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
TLDR
Clinical examination of patients with PGRN mutations revealed highly variable onset ages with language dysfunction as a common presenting symptom, and neuropathological examination showed FTLD with ubiquitin-positive cytoplasmic and intranuclear inclusions in all P GRN mutation carriers.
View on PubMed
Pathological gambling caused by drugs used to treat Parkinson disease.
TLDR
Dopamine agonist therapy was associated with potentially reversible pathological gambling, and pramipexole was the medication predominantly implicated.
View on PubMed
The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations.
TLDR
The finding that relatively mild involvement of the substantia nigra is associated clinically with manifest parkinsonism, while more advanced cerebellar pathology is required for ataxia, may explain why the parkinsonian presentation is predominant over ataxian symptoms in MSA.
View on PubMed
Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech.
TLDR
Refining the classification of the degenerative aphasias and AOS may be necessary to improve the understanding of the relationships among behavioural, pathological and imaging correlations.
View on PubMed
Neuropathological background of phenotypical variability in frontotemporal dementia
TLDR
Clinical diagnosis of bvFTD does not have a strong relationship to any FTLD subtype or specific pathology and therefore remains a diagnostic challenge, but some evidence suggests improved clinicopathological association of bVFTD by further refining clinical characteristics.
View on Springer
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