Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner et al.   LANCET NEUROLOGY

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

(2013) Vladimir L Buchman et al.   Molecular Neurodegeneration

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio 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

Familial ALS: less common than we think?

(2012) Véronique V Belzil et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

(2012) Amelia Conte et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis

(2012) Roger Pamphlett et al.   NEUROREPORT

Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis

(2011) Roger Pamphlett et al.   JOURNAL OF CLINICAL NEUROSCIENCE

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

Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis

(2011) Roger Pamphlett et al.   MUSCLE & NERVE

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

DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis

(2010) Natasha Luquin et al.   Amyotrophic Lateral Sclerosis

Dissecting complex phenotypes using the genomics of twins

(2010) Qihua Tan et al.   FUNCTIONAL & INTEGRATIVE GENOMICS

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2010) S. Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis

(2009) Julia M. Morahan et al.   Amyotrophic Lateral Sclerosis

Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis

(2009) Natasha Luquin et al.   NEUROMUSCULAR DISORDERS

An analysis of the entire SOD1 gene in sporadic ALS

(2008) Natasha Luquin et al.   NEUROMUSCULAR DISORDERS

A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases

(2007) Rebecca B. Saunderson et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES