scispace - formally typeset
Search or ask a question
Author

Giuseppe Borghero

Other affiliations: University of Turin
Bio: Giuseppe Borghero is an academic researcher from University of Cagliari. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Trinucleotide repeat expansion. The author has an hindex of 25, co-authored 50 publications receiving 7651 citations. Previous affiliations of Giuseppe Borghero include University of Turin.


Papers
More filters
Journal ArticleDOI
Alan E. Renton1, Elisa Majounie1, Adrian James Waite2, Javier Simón-Sánchez3, Javier Simón-Sánchez4, Sara Rollinson5, J. Raphael Gibbs1, J. Raphael Gibbs6, Jennifer C. Schymick1, Hannu Laaksovirta7, John C. van Swieten3, John C. van Swieten4, Liisa Myllykangas7, Hannu Kalimo7, Anders Paetau7, Yevgeniya Abramzon1, Anne M. Remes8, Alice Kaganovich1, Sonja W. Scholz1, Sonja W. Scholz9, Sonja W. Scholz10, Jamie Duckworth1, Jinhui Ding1, Daniel W. Harmer11, Dena G. Hernandez6, Dena G. Hernandez1, Janel O. Johnson1, Janel O. Johnson6, Kin Y. Mok6, Mina Ryten6, Danyah Trabzuni6, Rita Guerreiro6, Richard W. Orrell6, James Neal2, Alexandra Murray12, J. P. Pearson2, Iris E. Jansen3, David Sondervan3, Harro Seelaar4, Derek J. Blake2, Kate Young5, Nicola Halliwell5, Janis Bennion Callister5, Greg Toulson5, Anna Richardson5, Alexander Gerhard5, Julie S. Snowden5, David M. A. Mann5, David Neary5, Mike A. Nalls1, Terhi Peuralinna7, Lilja Jansson7, Veli-Matti Isoviita7, Anna-Lotta Kaivorinne8, Maarit Hölttä-Vuori7, Elina Ikonen7, Raimo Sulkava13, Michael Benatar14, Joanne Wuu14, Adriano Chiò15, Gabriella Restagno, Giuseppe Borghero16, Mario Sabatelli17, David Heckerman18, Ekaterina Rogaeva19, Lorne Zinman19, Jeffrey D. Rothstein9, Michael Sendtner20, Carsten Drepper20, Evan E. Eichler21, Can Alkan21, Ziedulla Abdullaev1, Svetlana Pack1, Amalia Dutra1, Evgenia Pak1, John Hardy6, Andrew B. Singleton1, Nigel Williams2, Peter Heutink3, Stuart Pickering-Brown5, Huw R. Morris22, Huw R. Morris12, Huw R. Morris2, Pentti J. Tienari7, Bryan J. Traynor1, Bryan J. Traynor9 
20 Oct 2011-Neuron
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.

3,784 citations

Journal ArticleDOI
09 Dec 2010-Neuron
TL;DR: Exome sequencing data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neurons degeneration.

1,040 citations

Journal ArticleDOI
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.
Abstract: Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings In patients with sporadic ALS, we identified the repeat expansion in 236 (7·0%) of 3377 white individuals from the USA, Europe, and Australia, two (4·1%) of 49 black individuals from the USA, and six (8·3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39·3%) of 552 white individuals with familial ALS from Europe and the USA. 59 (6·0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24·8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic ALS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years, and almost fully penetrant by 80 years. Interpretation A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases. Funding Full funding sources listed at end of paper (see Acknowledgments).

951 citations

Journal ArticleDOI
Aude Nicolas1, Kevin P. Kenna2, Alan E. Renton1, Alan E. Renton3  +432 moreInstitutions (78)
21 Mar 2018-Neuron
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.

444 citations


Cited by
More filters
Journal ArticleDOI
Alan E. Renton1, Elisa Majounie1, Adrian James Waite2, Javier Simón-Sánchez3, Javier Simón-Sánchez4, Sara Rollinson5, J. Raphael Gibbs1, J. Raphael Gibbs6, Jennifer C. Schymick1, Hannu Laaksovirta7, John C. van Swieten3, John C. van Swieten4, Liisa Myllykangas7, Hannu Kalimo7, Anders Paetau7, Yevgeniya Abramzon1, Anne M. Remes8, Alice Kaganovich1, Sonja W. Scholz9, Sonja W. Scholz1, Sonja W. Scholz10, Jamie Duckworth1, Jinhui Ding1, Daniel W. Harmer11, Dena G. Hernandez1, Dena G. Hernandez6, Janel O. Johnson1, Janel O. Johnson6, Kin Y. Mok6, Mina Ryten6, Danyah Trabzuni6, Rita Guerreiro6, Richard W. Orrell6, James Neal2, Alexandra Murray12, J. P. Pearson2, Iris E. Jansen3, David Sondervan3, Harro Seelaar4, Derek J. Blake2, Kate Young5, Nicola Halliwell5, Janis Bennion Callister5, Greg Toulson5, Anna Richardson5, Alexander Gerhard5, Julie S. Snowden5, David M. A. Mann5, David Neary5, Mike A. Nalls1, Terhi Peuralinna7, Lilja Jansson7, Veli-Matti Isoviita7, Anna-Lotta Kaivorinne8, Maarit Hölttä-Vuori7, Elina Ikonen7, Raimo Sulkava13, Michael Benatar14, Joanne Wuu14, Adriano Chiò15, Gabriella Restagno, Giuseppe Borghero16, Mario Sabatelli17, David Heckerman18, Ekaterina Rogaeva19, Lorne Zinman19, Jeffrey D. Rothstein9, Michael Sendtner20, Carsten Drepper20, Evan E. Eichler21, Can Alkan21, Ziedulla Abdullaev1, Svetlana Pack1, Amalia Dutra1, Evgenia Pak1, John Hardy6, Andrew B. Singleton1, Nigel Williams2, Peter Heutink3, Stuart Pickering-Brown5, Huw R. Morris2, Huw R. Morris22, Huw R. Morris12, Pentti J. Tienari7, Bryan J. Traynor1, Bryan J. Traynor9 
20 Oct 2011-Neuron
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.

3,784 citations

01 Jan 2011
TL;DR: The sheer volume and scope of data posed by this flood of data pose a significant challenge to the development of efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data.
Abstract: Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data from exome and whole-genome sequencing, epigenetic surveys, expression profiling of coding and noncoding RNAs, single nucleotide polymorphism (SNP) and copy number profiling, and functional assays. Analysis of these large, diverse data sets holds the promise of a more comprehensive understanding of the genome and its relation to human disease. Experienced and knowledgeable human review is an essential component of this process, complementing computational approaches. This calls for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data. However, the sheer volume and scope of data pose a significant challenge to the development of such tools.

2,187 citations

Journal Article
TL;DR: It is hypothesized that beta oscillations and/or coupling in the beta-band are expressed more strongly if the maintenance of the status quo is intended or predicted, than if a change is expected.
Abstract: In this review, we consider the potential functional role of beta-band oscillations, which at present is not yet well understood. We discuss evidence from recent studies on top-down mechanisms involved in cognitive processing, on the motor system and on the pathophysiology of movement disorders that suggest a unifying hypothesis: beta-band activity seems related to the maintenance of the current sensorimotor or cognitive state. We hypothesize that beta oscillations and/or coupling in the beta-band are expressed more strongly if the maintenance of the status quo is intended or predicted, than if a change is expected. Moreover, we suggest that pathological enhancement of beta-band activity is likely to result in an abnormal persistence of the status quo and a deterioration of flexible behavioural and cognitive control.

1,837 citations