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

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients

(2019) Francesca Trojsi et al.   Frontiers in Neuroscience

Schizophrenia Phenotype Preceding Behavioral Variant Frontotemporal Dementia Related to C9orf72 Repeat Expansion

(2019) Leila Sellami et al.   Cognitive and Behavioral Neurology

Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms

(2019) Hannah E. Silverman et al.   Current Neurology and Neuroscience Reports

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

(2018) Alexander E. Volk et al.   Medizinische Genetik

Clinical spectrum of C9orf72 expansion in a cohort of Huntington’s disease phenocopies

(2018) Joana Martins et al.   NEUROLOGICAL SCIENCES

Psychiatric disorders in C9orf72 kindreds

(2018) Emma M. Devenney et al.   NEUROLOGY

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

(2017) Ashley F. Curtis et al.   NEUROLOGY

Age-related penetrance of the C9orf72 repeat expansion

(2017) Natalie A. Murphy et al.   Scientific Reports

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

(2017) Sara Van Mossevelde et al.   JAMA Neurology

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population

(2016) Mfon E. Umoh et al.   NEUROLOGY

The role of the FTD-ALS associated C9orf72 expansion in suicide victims

(2016) Eino Solje et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

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

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   ANNALS OF NEUROLOGY

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

(2013) Nicola Ticozzi et al.   NEUROBIOLOGY OF AGING

Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions inC9orf72

(2013) Julie S. Snowden et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman 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