C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis

The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis

(2018) Yingying Zhang et al.   GENES & DEVELOPMENT

Prevalence of immunological diseases in a Finnish frontotemporal lobar degeneration cohort with the C9orf72 repeat expansion carriers and non-carriers

(2018) Kasper Katisko et al.   JOURNAL OF NEUROIMMUNOLOGY

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

(2018) Iris Broce et al.   PLOS MEDICINE

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases

(2018) Lucia Corrado et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis

(2018) Cinzia Tiloca et al.   Multiple Sclerosis and Related Disorders

The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases

(2018) Giorgio Biasiotto et al.   Multiple Sclerosis and Related Disorders

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

(2017) Deepti Lall et al.   JOURNAL OF CLINICAL INVESTIGATION

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

(2017) Adeline S L Ng et al.   JOURNAL OF MEDICAL GENETICS

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles

(2017) Giorgio Biasiotto et al.   MOLECULAR AND CELLULAR PROBES

Sex differences in the prevalence of genetic mutations in FTD and ALS

(2017) Ashley F. Curtis et al.   NEUROLOGY

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

(2016) Aaron Burberry et al.   Science Translational Medicine

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

(2016) Angelica Nordin et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

(2016) Patrizia Rizzu et al.   Acta Neuropathologica Communications

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice

(2016) Amanda Atanasio et al.   Scientific Reports

C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson’s disease complicated by psychosis or dementia in a Sardinian population

(2015) Antonino Cannas et al.   JOURNAL OF NEUROLOGY

Iron and Neurodegeneration: Is Ferritinophagy the Link?

(2015) Giorgio Biasiotto et al.   MOLECULAR NEUROBIOLOGY

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

(2015) I Gijselinck et al.   MOLECULAR PSYCHIATRY

Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients

(2014) Zhengrui Xi et al.   HUMAN MOLECULAR GENETICS

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

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

C9ORF72Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

(2013) Karen Nuytemans et al.   ANNALS OF HUMAN GENETICS

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results

(2013) A. Semaka et al.   CLINICAL GENETICS

TDP-43 frontotemporal lobar degeneration and autoimmune disease

(2013) Z. A. Miller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

(2013) Rita Cacace et al.   NEUROBIOLOGY OF AGING

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

(2013) E. Gomez-Tortosa et al.   NEUROLOGY

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus

(2012) Michelle Petri et al.   ARTHRITIS AND RHEUMATISM

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

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

(2012) Mario Sabatelli et al.   NEUROBIOLOGY OF AGING

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

2010 Rheumatoid arthritis classification criteria: An American College of Rheumatology/European League Against Rheumatism collaborative initiative

(2010) Daniel Aletaha et al.   ARTHRITIS AND RHEUMATISM

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(2008) Chunyu Liu et al.   MOLECULAR MEDICINE