A pathogenicprogranulinmutation andC9orf72repeat expansion in a family with frontotemporal dementia
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Title
A pathogenicprogranulinmutation andC9orf72repeat expansion in a family with frontotemporal dementia
Authors
Keywords
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Journal
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Volume 40, Issue 4, Pages 502-513
Publisher
Wiley
Online
2013-11-29
DOI
10.1111/nan.12100
References
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Related references
Note: Only part of the references are listed.- Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
- (2012) G.-Y. R. Hsiung et al. BRAIN
- Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
- (2012) Johnathan Cooper-Knock et al. BRAIN
- Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
- (2012) J. S. Snowden et al. BRAIN
- The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
- (2012) Javier Simón-Sánchez et al. BRAIN
- Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
- (2012) Bradley F. Boeve et al. BRAIN
- Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
- (2012) C. J. Mahoney et al. BRAIN
- Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
- (2012) J. L. Whitwell et al. BRAIN
- ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations
- (2012) Adriano Chiò et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Screening for C9ORF72 repeat expansion in FTLD
- (2012) Raffaele Ferrari et al. NEUROBIOLOGY OF AGING
- p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
- (2011) Safa Al-Sarraj et al. ACTA NEUROPATHOLOGICA
- A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies
- (2011) T. Lashley et al. BRAIN
- Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
- (2011) J. D. Rohrer et al. BRAIN
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
- (2011) Mariely DeJesus-Hernandez et al. NEURON
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- (2011) Alan E. Renton et al. NEURON
- Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations
- (2010) Jonathan D. Rohrer et al. NEUROIMAGE
- The heritability and genetics of frontotemporal lobar degeneration
- (2009) J. D. Rohrer et al. NEUROLOGY
- A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
- (2008) J. Beck et al. BRAIN
- Distinct genetic forms of frontotemporal dementia
- (2008) H. Seelaar et al. NEUROLOGY
- Progranulin locus deletion in frontotemporal dementia
- (2007) I. Gijselinck et al. HUMAN MUTATION
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