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Vienna , — Kouri, N. Novel mutation in MAPT exon 13 p. NH causes corticobasal degeneration. Kelly, B. Prominent phenotypic variability associated with mutations in progranulin.

Neuropsychiatric Assessment of Patients With Hyperkinetic and Hypokinetic Movement Disorders

Aging 30 , — Le Ber, I. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Davion, S. Clinicopathologic correlation in PGRN mutations. Neurology 69 , — Masellis, M.

Genetic Characterization of Movement Disorders and Dementias

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Josephs, K. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene PGRN mutations. Corticobasal syndrome associated with the A9D progranulin mutation.

Benussi, L. Aging 29 , — Rusina, R. FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP proteinopathies.

Table of Contents

A report of three cases. BMC Neurol. Renton, A. Neuron 72 , — Khan, B. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. Van Langenhove, T.


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JAMA Neurol. O'Dowd, S. Goldman, J. Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf Cooper-Knock, J. C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology 81 , — Lindquist, S. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Increased Risk of Dementia Among Sleep-Related Movement Diso : Medicine

Snowden, J. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.


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Daoud, H. Investigation of C9orf72 repeat expansions in Parkinson's disease. Aging 34 , Harms, M.

Parkinson disease is not associated with C9ORF72 repeat expansions. Xi, Z. Investigation of c9orf72 in 4 neurodegenerative disorders. Lesage, S. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Majounie, E. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Nuytemans, K. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

Akimoto, C. Lateral Scler. Frontotemporal Degener. Dombroski, B. C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-parkinsonism-dementia complex. Floris, G. Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72 : a peculiar phenotype?

Robinson, A. C9ORF72 in dementia with Lewy bodies. Psychiatry 85 , — Morgan, S. Johnson, J.


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  • Neuron 68 , — Phenotypic variability in three families with valosin-containing protein mutation. Mutational analysis of the VCP gene in Parkinson's disease.

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    Aging 33 , Gydesen, S. Chromosome 3 linked frontotemporal dementia FTD Neurology 59 , — Deng, H. The role of FUS gene variants in neurodegenerative diseases. Isaacs, A. Alzheimer Res. Yan, J. Neurology 75 , — Seelaar, H. Mosca, L. Wide phenotypic spectrum of the TARDBP gene: homozygosity of AT mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.

    Quadri, M. Neurogenetics 12 , — Rayaprolu, S. Fujita, Y. Neurology 77 , — Borghero, G. A patient carrying a homozygous p. Aging 32 , Espay, A. Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. Psychiatry 82 , — Kabashi, E. Ticozzi, N. Aging 32 , — Takahashi, K. Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells Bianchin, M.

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    Nasu—Hakola disease polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy — PLOSL : a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. Giraldo, M. Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

    Guerreiro, R. TREM2 variants in Alzheimer's disease. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.