The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

(2017) Maria Pia Giannoccaro et al.   JOURNAL OF NEUROLOGY

LRRK2 variation and dementia with Lewy bodies

(2016) Michael G. Heckman et al.   PARKINSONISM & RELATED DISORDERS

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia

(2015) Anna Bartoletti-Stella et al.   JOURNAL OF NEUROLOGY

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

(2015) Aoife P. Kiely et al.   Molecular Neurodegeneration

Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

(2014) Mari Kantanen et al.   PeerJ

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family

(2013) Isabelle Audo et al.   HUMAN MOLECULAR GENETICS

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

(2013) John Beck et al.   NEUROBIOLOGY OF AGING

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

Frontotemporal Dementia in a Brazilian Kindred With the C9orf72 Mutation

(2012) Leonel T. Takada   ARCHIVES OF NEUROLOGY

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

(2012) A. Chio et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez 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

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

(2012) Antonia Ratti et al.   NEUROBIOLOGY OF AGING

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia

(2012) Edward D. Huey et al.   NEUROBIOLOGY OF AGING

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

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

Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits

(2010) R. Tamayev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH