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Title
Pathophysiological insights into ALS with C9ORF72 expansions
Authors
Keywords
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Journal
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume 84, Issue 8, Pages 931-935
Publisher
BMJ
Online
2013-03-06
DOI
10.1136/jnnp-2012-304529
References
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Related references
Note: Only part of the references are listed.- Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
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- Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
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- Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
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- Evidence for an oligogenic basis of amyotrophic lateral sclerosis
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- Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?
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- 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
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- 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
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- (2011) Han-Xiang Deng et al. NATURE
- Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
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- Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
- (2011) Peter M. Andersen et al. Nature Reviews 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
- Upregulation of persistent sodium conductances in familial ALS
- (2009) S. Vucic et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION
- (2009) M. A. van Es et al. NEUROLOGY
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
- (2009) C. Vance et al. SCIENCE
- Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis
- (2008) Steve Vucic et al. BRAIN
- TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
- (2008) J. Sreedharan et al. SCIENCE
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