K. Josephs

Publications549
h-index84
Citations29,143
Highly Influential Citations1,695
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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion… Expand
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Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.
Based on the recent literature and collective experience, an international consortium developed revised guidelines for the diagnosis of behavioural variant frontotemporal dementia. The validation… Expand
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Criteria for the diagnosis of corticobasal degeneration
Current criteria for the clinical diagnosis of pathologically confirmed corticobasal degeneration (CBD) no longer reflect the expanding understanding of this disease and its clinicopathologic… Expand
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Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria
Background: PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have… Expand
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Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP
Objective: To examine the relationship between early clinical features, pathologies, and biochemistry of the frontotemporal lobar degenerations (FTLDs), progressive supranuclear palsy (PSP), and… Expand
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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of PGRN mutations in… Expand
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Pathological gambling caused by drugs used to treat Parkinson disease.
BACKGROUND Pathological gambling is a rare potential complication related to treatment of Parkinson disease (PD). However, the etiology of this behavior is poorly understood. OBJECTIVE To examine… Expand
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The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations.
TLDR
Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disease, which usually presents clinically as a combination of parkinsonism, cerebellar ataxia and autonomic failure. Expand
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Neuropathological background of phenotypical variability in frontotemporal dementia
Frontotemporal lobar degeneration (FTLD) is the umbrella term encompassing a heterogeneous group of pathological disorders. With recent discoveries, the FTLDs have been show to classify nicely into… Expand
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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
Numerous kindreds with familial frontotemporal dementia and/or amyotrophic lateral sclerosis have been linked to chromosome 9, and an expansion of the GGGGCC hexanucleotide repeat in the non-coding… Expand
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