Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …
associated loci, we assembled a custom imputation reference panel from whole-genome …
[PDF][PDF] Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …
this methodology is difficult in late-onset diseases where limited availability of DNA from …
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
L Corrado, R Del Bo, B Castellotti, A Ratti… - Journal of medical …, 2010 - jmg.bmj.com
Background Mutations in the FUS gene have recently been discovered to be a major cause
of familial amyotrophic lateral sclerosis (FALS). Objective To determine the identity and …
of familial amyotrophic lateral sclerosis (FALS). Objective To determine the identity and …
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
V Pensato, B Castellotti, C Gellera, D Pareyson… - Brain, 2014 - academic.oup.com
Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders,
clinically classified in pure and complex forms. Genetically, more than 70 different forms of …
clinically classified in pure and complex forms. Genetically, more than 70 different forms of …
A genome-wide association meta-analysis identifies a novel locus at 17q11. 2 associated with sporadic amyotrophic lateral sclerosis
Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided
novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease …
novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease …
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …
by age of symptom onset less than 25 years and a variable presentation. Objective To …
[PDF][PDF] Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
A Ratti, L Corrado, B Castellotti, R Del Bo, I Fogh… - Neurobiology of …, 2012 - Elsevier
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the
main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia …
main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia …
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
C Gellera, C Tiloca, R Del Bo, L Corrado… - Journal of Neurology …, 2013 - jnnp.bmj.com
Objectives Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease mainly
involving cortical and spinal motor neurones. Molecular studies have recently identified …
involving cortical and spinal motor neurones. Molecular studies have recently identified …
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
V Pensato, C Tiloca, L Corrado, C Bertolin… - Journal of …, 2015 - Springer
Recently, by performing an exome-wide, case–control burden analysis of rare variant in
FALS index cases, we identified an excess of patient variants (7/635) in TUBA4A gene …
FALS index cases, we identified an excess of patient variants (7/635) in TUBA4A gene …