Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

(2020) Jazmyne L. Jackson et al.   Molecular Neurodegeneration

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

(2020) Emily P McCann et al.   JOURNAL OF MEDICAL GENETICS

Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease

(2020) Franziska Hopfner et al.   MOVEMENT DISORDERS

Oligogenicity, C9orf72 expansion, and variant severity in ALS

(2020) Jay P. Ross et al.   NEUROGENETICS

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

(2020) Florence Esselin et al.   Frontiers in Neuroscience

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

(2020) Prabhjyot Saini et al.   NEUROBIOLOGY OF AGING

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

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

(2018) Clémence Fournier et al.   NEUROBIOLOGY OF AGING

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

(2017) Sara Van Mossevelde et al.   JAMA Neurology

Clustering of Neuropsychiatric Disease in First-Degree and Second-Degree Relatives of Patients With Amyotrophic Lateral Sclerosis

(2017) Margaret O’Brien et al.   JAMA Neurology

TheEIF4G1gene and Parkinson's disease

(2015) H. Deng et al.   ACTA NEUROLOGICA SCANDINAVICA

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

(2015) EunRan Suh et al.   ACTA NEUROPATHOLOGICA

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

(2015) Angelica Nordin et al.   HUMAN MOLECULAR GENETICS

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

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

(2015) Jin-Sung Park et al.   MOVEMENT DISORDERS

C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence

(2015) C. T. McMillan et al.   NEUROLOGY

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

(2015) Johnathan Cooper-Knock et al.   Neurotherapeutics

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

(2014) Jenny Russ et al.   ACTA NEUROPATHOLOGICA

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

(2014) Elaine Y. Liu et al.   ACTA NEUROPATHOLOGICA

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

(2014) Veronique V. Belzil et al.   BRAIN RESEARCH

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

(2014) Zhengrui Xi et al.   HUMAN MOLECULAR GENETICS

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) O. Dols-Icardo et al.   HUMAN MOLECULAR GENETICS

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

Lysosomal dysfunction in Parkinson disease

(2012) Benjamin Dehay et al.   Autophagy

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

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

Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive–compulsive disorder associated to GGGGCC expansion of the c9orf72 gene

(2012) Andrea Calvo et al.   JOURNAL OF NEUROLOGY

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

(2012) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

(2011) Marie-Christine Chartier-Harlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

ATP13A2variants in early-onset Parkinson's disease patients and controls

(2009) Ana Djarmati et al.   MOVEMENT DISORDERS