Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
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Title
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Authors
Keywords
C9orf72, Motor neuron disease, Frontotemporal dementia, TDP-43, Non-ATG translation
Journal
ACTA NEUROPATHOLOGICA
Volume 126, Issue 6, Pages 859-879
Publisher
Springer Nature
Online
2013-10-05
DOI
10.1007/s00401-013-1181-y
References
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- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
- (2013) Daniela Galimberti et al. BIOLOGICAL PSYCHIATRY
- CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
- (2013) Peter K. Todd et al. NEURON
- Toxic RNA as a driver of disease in a common form of ALS and dementia
- (2013) H. T. Orr PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori et al. SCIENCE
- Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
- (2013) Marc Cruts et al. TRENDS IN NEUROSCIENCES
- Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort
- (2013) Tim Van Langenhove et al. JAMA Neurology
- Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
- (2012) Johannes Brettschneider et al. ACTA NEUROPATHOLOGICA
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- (2012) Heather Stewart et al. ACTA NEUROPATHOLOGICA
- 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
- A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
- (2012) Julie van der Zee et al. HUMAN MUTATION
- Correlation of Alzheimer Disease Neuropathologic Changes With Cognitive Status: A Review of the Literature
- (2012) Peter T. Nelson et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
- (2012) Susan Byrne et al. LANCET NEUROLOGY
- 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
- Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
- (2011) Melissa E. Murray et al. ACTA NEUROPATHOLOGICA
- A harmonized classification system for FTLD-TDP pathology
- (2011) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Amyloid deposits: Protection against toxic protein species?
- (2011) Sebastian Treusch et al. CELL CYCLE
- A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
- (2011) Ilse Gijselinck et al. LANCET NEUROLOGY
- 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
- Non-ATG-initiated translation directed by microsatellite expansions
- (2010) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies
- (2009) Manuela Neumann et al. ACTA NEUROPATHOLOGICA
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