BRinging Artificial INTelligencE home for a better cAre of amyotrophic lateral sclerosis and multiple SclERosis

Informations projet

BRAINTEASER

N° de convention de subvention: 101017598

DOI

10.3030/101017598

Projet clôturé

Date de signature de la CE 9 Decembre 2020

Date de début 1 Janvier 2021

Date de fin 30 Juin 2025

Financé au titre de

• SOCIETAL CHALLENGES - Health, demographic change and well-being

Coût total

€ 5 889 190,00

Contribution de l’UE

€ 5 889 190,00

Coordonné par

UNIVERSIDAD POLITECNICA DE MADRID
Spain

CORDIS fournit des liens vers les livrables publics et les publications des projets HORIZON.

Les liens vers les livrables et les publications des projets du 7e PC, ainsi que les liens vers certains types de résultats spécifiques tels que les jeux de données et les logiciels, sont récupérés dynamiquement sur OpenAIRE .

Livrables

Documents, reports (17)

DC&SE Strategy and Plan (M6)

Results of Task 101 strategic framework including stakeholders mapping and analysis and the operational plan for the DCSE implementation

Evaluation challenge: report on the analysis of the experimental results, proceedings, and integration with EOSC (M24)

Results of tasks 92 93 and 94 regularly updated It consists of the experimental data gathered from the evaluation challenges the analysis of the experimental results the proceedings of the evaluation challenges including a digested summary of the main finding suitable for the general public a report on the conducted evaluation challenge workshop the integration and mapping of the experimental data within the project data and sharing via EOSC

Shared data package for the evaluation challenge and integration with EOSC (M30)

This rolling deliverable will include the results of tasks 91 92 93 and 94 and it will be regularly updated consisting of the mapped and integrated project data the datasets a subset of the overall project data to be used for the evaluation challenges the anonymization and privacy preserving steps employed to satisfy personal and medical data safety requirements the sharing and integration of these data via EOSC the detailed description of which data will be publicly available in compliance with the EU regulation

DC&SE Report (M12)

Includes four annual versions of the DCSE report which will describe the activities carried out in Task 103 and Task 102

Project ontology and terminology, including data mapper and RDF graph builder (M24)

This rolling deliverable will include the results of task 91 and 92 and it will be regularly updated consisting of the analysis of the requirements of the use cases a graphical and textual description of the of the ontology the OWL file encoding the ontology a software library to map a selected set of project data into RDF graphs to be released as Linked Open Data since D92 the structural definition of the terminological record together with samples of the terminological records in the standard TermBase eXchange TBX format and translation memories and samples of the machine translated segments in the standard Translation Memory eXchange TMX format since D92 a web application to access the terminology and the translation memories since D92

DC&SE Strategy and Plan (M48)

Results of Task 10.1; strategic framework, including stakeholders mapping and analysis, and the operational plan for the DC&SE implementation.

Project ontology and terminology, including data mapper and RDF graph builder (M12)

This rolling deliverable will include the results of task 91 and 92 and it will be regularly updated consisting of the analysis of the requirements of the use cases a graphical and textual description of the of the ontology the OWL file encoding the ontology a software library to map a selected set of project data into RDF graphs to be released as Linked Open Data since D92 the structural definition of the terminological record together with samples of the terminological records in the standard TermBase eXchange TBX format and translation memories and samples of the machine translated segments in the standard Translation Memory eXchange TMX format since D92 a web application to access the terminology and the translation memories since D92

Evaluation challenge: report on the analysis of the experimental results, proceedings, and integration with EOSC (M48)

Results of tasks 9.2, 9.3, and 9.4, regularly updated. It consists of: the experimental data gathered from the evaluation challenge(s); the analysis of the experimental results; the proceedings of the evaluation challenge(s), including a digested summary of the main finding suitable for the general public; a report on the conducted evaluation challenge workshop; the integration and mapping of the experimental data within the project data and sharing via EOSC.

Project ontology and terminology, including data mapper and RDF graph builder (M36)

This rolling deliverable will include the results of task 9.1 and 9.2 and it will be regularly updated consisting of: the analysis of the requirements of the use cases; a graphical and textual description of the of the ontology; the OWL file encoding the ontology; a software library to map a selected set of project data into RDF graphs to be released as Linked Open Data (since D9.2); the structural definition of the terminological record, together with samples of the terminological records in the standard TermBase eXchange (TBX) format and translation memories and samples of the machine translated segments in the standard Translation Memory eXchange (TMX) format (since D9.2); a web application to access the terminology and the translation memories (since D9.2).

Shared data package for the evaluation challenge and integration with EOSC (M42)

This rolling deliverable will include the results of tasks 9.1, 9.2, 9.3, and 9.4 and it will be regularly updated, consisting of: the mapped and integrated project data; the datasets (a subset of the overall project data) to be used for the evaluation challenge(s); the anonymization and privacy preserving steps employed to satisfy personal and medical data safety requirements; the sharing and integration of these data via EOSC; the detailed description of which data will be publicly available in compliance with the EU regulation.

DC&SE Report (M24)

Includes four annual versions of the DCSE report which will describe the activities carried out in Task 103 and Task 102

DC&SE Report (M36)

Includes four annual versions of the DC&SE report which will describe the activities carried out in Task 10.3 and Task 10.2.

Exploitation Plan (M24)

Exploitation plan activities including the outcomes from the Exploitation Workshop

Shared data package for the evaluation challenge and integration with EOSC (M18)

This rolling deliverable will include the results of tasks 91 92 93 and 94 and it will be regularly updated consisting of the mapped and integrated project data the datasets a subset of the overall project data to be used for the evaluation challenges the anonymization and privacy preserving steps employed to satisfy personal and medical data safety requirements the sharing and integration of these data via EOSC the detailed description of which data will be publicly available in compliance with the EU regulation

DC&SE Strategy and Plan (M24)

Results of Task 101 strategic framework including stakeholders mapping and analysis and the operational plan for the DCSE implementation

Evaluation challenge: report on the analysis of the experimental results, proceedings, and integration with EOSC (M36)

Results of tasks 9.2, 9.3, and 9.4, regularly updated. It consists of: the experimental data gathered from the evaluation challenge(s); the analysis of the experimental results; the proceedings of the evaluation challenge(s), including a digested summary of the main finding suitable for the general public; a report on the conducted evaluation challenge workshop; the integration and mapping of the experimental data within the project data and sharing via EOSC.

Liaison and coordination activities report

Includes description of alignment with other EU and non-EU initiatives with similar or complementary objectives.

Websites, patent fillings, videos etc. (1)

Visual identity, website and communication package

Output of Task 102 by M4 and contains the main graphic and communication materials

Publications

Peer reviewed articles (48)

Temporal stratification of amyotrophic lateral sclerosis patients using disease progression patterns

Auteurs: Daniela M. Amaral, Diogo F. Soares, Marta Gromicho, Mamede de Carvalho, Sara C. Madeira, Pedro Tomás, Helena Aidos
Publié dans: Nature Communications, Numéro 15, 2024, ISSN 2041-1723
Éditeur: Nature Publishing Group
DOI: 10.1038/s41467-024-49954-y

Creatine Kinase and Respiratory Decline in Amyotrophic Lateral Sclerosis

Auteurs: João Pedro Correia, Marta Gromicho, Ana Catarina Pronto-Laborinho, Miguel Oliveira Santos, Mamede de Carvalho
Publié dans: Brain Sciences, Numéro 14, 2025, Page(s) 661, ISSN 2076-3425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci14070661

Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: A systematic review

Auteurs: Tavazzi E, Longato E, Vettoretti M, Aidos H, Trescato I, Roversi C, Martins AS, Castanho EN, Branco R, Soares DF, Guazzo A, Birolo G, Pala D, Bosoni P, Chiò A, Manera U, de Carvalho M, Miranda B, Gromicho M, Alves I, Bellazzi R, Dagliati A, Fariselli P, Madeira SC, Di Camillo B
Publié dans: Artificial Intelligence in Medicine, 2023, ISSN 0933-3657
Éditeur: Elsevier BV
DOI: 10.1016/j.artmed.2023.102588

Thyroid dysfunction in Portuguese amyotrophic lateral sclerosis patients

Auteurs: Santos Silva C, Gromicho M, Oliveira Santos M, Pinto S, Swash M, de Carvalho M
Publié dans: Neurological Sciences, 2022, ISSN 1590-1874
Éditeur: Springer Verlag
DOI: 10.1007/s10072-022-06135-3

Assessing disease progression in ALS: prognostic subgroups and outliers

Auteurs: Inês Alves, Marta Gromicho, Miguel Oliveira Santos, Susana Pinto, Mamede de Carvalho
Publié dans: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Numéro 26, 2025, Page(s) 58-63, ISSN 2167-8421
Éditeur: Informa Healthcare
DOI: 10.1080/21678421.2024.2407412

High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with <scp><i>SOD1</i></scp> Pathogenic Variants

Auteurs: Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Margherita Daviddi, Filippo De Mattei, Enrico Matteoni, Salvatore Gallone, Maura Brunetti, Luca Sbaiz, Sara Cabras, Laura Peotta, Francesca Palumbo, Barbara Iazzolino, Gabriele Mora, Adriano Chiò
Publié dans: Annals of Neurology, Numéro 96, 2025, Page(s) 150-158, ISSN 0364-5134
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/ana.26928

Cognitive reserve as a modulator of cognitive decline and of behavioral symptoms in patients with amyotrophic lateral sclerosis

Auteurs: Sara Simão, Miguel Oliveira Santos, Marta Gromicho, Isabel Pavão Martins, Mamede De Carvalho
Publié dans: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Numéro 25, 2024, Page(s) 726-736, ISSN 2167-8421
Éditeur: Informa Healthcare
DOI: 10.1080/21678421.2024.2385684

A Comprehensive Review of Deep Learning Applications with Multi-Omics Data in Cancer Research

Auteurs: Flavio Sartori, Francesco Codicè, Isabella Caranzano, Cesare Rollo, Giovanni Birolo, Piero Fariselli, Corrado Pancotti
Publié dans: Genes, Numéro 16, 2025, Page(s) 648, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes16060648

Calculated Maximal Volume Ventilation (cMVV) as a Marker of Early Respiratory Failure in Amyotrophic Lateral Sclerosis (ALS)

Auteurs: Umberto Manera, Maria Claudia Torrieri, Cristina Moglia, Antonio Canosa, Rosario Vasta, Francesca Palumbo, Enrico Matteoni, Sara Cabras, Maurizio Grassano, Alessandro Bombaci, Alessio Mattei, Michela Bellocchia, Giuseppe Tabbia, Fulvia Ribolla, Adriano Chiò, Andrea Calvo
Publié dans: Brain Sciences, Numéro 14, 2025, Page(s) 157, ISSN 2076-3425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci14020157

Systematic evaluation of genetic mutations in ALS: a population-based study

Auteurs: Grassano M, Calvo A, Moglia C, Sbaiz L, Brunetti M, Barberis M, Casale F, Manera U, Vasta R, Canosa A, D'Alfonso S, Corrado , Mazzini L, Dalgard C, Karra R, Chia R, Traynor B, Chiò A
Publié dans: Journal of Neurology, Neurosurgery & Psychiatry, 2022, ISSN 0022-3050
Éditeur: BMJ Publishing Group
DOI: 10.1136/jnnp-2022-328931

Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis

Auteurs: Chio A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor BJ, Corrado L, Dalfonso S, Mazzini L, Calvo A
Publié dans: Neurology, 2023, ISSN 1526-632X
Éditeur: American Academy of Neurology
DOI: 10.1212/wnl.0000000000207367

Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience

Auteurs: Alves I, Gromicho M, Santos MO, Pinto S, Pronto-Laborinho A, SwashM, De Carvalho M
Publié dans: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023, ISSN 2167-8421
Éditeur: Informa Healthcare
DOI: 10.1080/21678421.2023.2220747

Clinical and Metabolic Signature of <i>UNC13A</i> rs12608932 Variant in Amyotrophic Lateral Sclerosis

Auteurs: Andrea Calvo, Antonio Canosa, Cristina Moglia, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Paolo Cugnasco, Salvatore Gallone, Maura Brunetti, Fabiola De Marchi, Vincenzo Arena, Marco Pagani, Clifton Dalgard, Sonja W. Scholz, Ruth Chia, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Bryan J. Traynor, Adriano Chio
Publié dans: Neurology Genetics, Numéro 8, 2024, ISSN 2376-7839
Éditeur: Lippincott Williams & Wilkins (LWW)
DOI: 10.1212/nxg.0000000000200033

BamToCov: an efficient toolkit for sequence coverage calculations

Auteurs: Giovanni Birolo, Andrea Telatin
Publié dans: Bioinformatics, Numéro 38, 2023, Page(s) 2617-2618, ISSN 1367-4803
Éditeur: Oxford University Press
DOI: 10.1093/bioinformatics/btac125

An extensible and unifying approach to retrospective clinical data modeling: the BrainTeaser Ontology

Auteurs: Guglielmo Faggioli, Laura Menotti, Stefano Marchesin, Adriano Chió, Arianna Dagliati, Mamede de Carvalho, Marta Gromicho, Umberto Manera, Eleonora Tavazzi, Giorgio Maria Di Nunzio, Gianmaria Silvello, Nicola Ferro
Publié dans: Journal of Biomedical Semantics, Numéro 15, 2024, ISSN 2041-1480
Éditeur: Biomed Central
DOI: 10.1186/s13326-024-00317-y

Intermediate<i>HTT</i>CAG repeats worsen disease severity in amyotrophic lateral sclerosis

Auteurs: Maurizio Grassano, Antonio Canosa, Sandra D’Alfonso, Lucia Corrado, Giorgia Brodini, Emanuele Koumantakis, Paolo Cugnasco, Umberto Manera, Rosario Vasta, Francesca Palumbo, Letizia Mazzini, Salvatore Gallone, Cristina Moglia, Ramita Dewan, Ruth Chia, Jinhui Ding, Clifton Dalgard, Raphael J Gibbs, Sonja Scholz, Andrea Calvo, Bryan Traynor, Adriano Chio
Publié dans: Journal of Neurology, Neurosurgery &amp; Psychiatry, Numéro 96, 2025, Page(s) 100-102, ISSN 0022-3050
Éditeur: BMJ Publishing Group
DOI: 10.1136/jnnp-2024-333998

Amyotrophic lateral sclerosis regional progression intervals change according to time of involvement of different body regions

Auteurs: Manera U, D'Ovidio F, Cabras S, Torrieri MC, Canosa A, Vasta R, Palumbo F, Grassano M, De Marchi F, Mazzini L, Mora G, Moglia C, Calvo A, Chiò A
Publié dans: European Journal of Neurology, 2023, ISSN 1351-5101
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/ene.15674

Unravelling the instability of mutational signatures extraction via archetypal analysis

Auteurs: Corrado Pancotti, Cesare Rollo, Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Tiziana Sanavia
Publié dans: Frontiers in Genetics, Numéro 13, 2023, ISSN 1664-8021
Éditeur: Frontiers Media
DOI: 10.3389/fgene.2022.1049501

Learning prognostic models using a mixture of biclustering and triclustering: Predicting the need for non-invasive ventilation in Amyotrophic Lateral Sclerosis

Auteurs: Soares DF, Henriques R, Gromicho M, de Carvalho M, Madeira SC
Publié dans: Journal of Biomedical Informatics, 2022, ISSN 1532-0464
Éditeur: Academic Press
DOI: 10.1016/j.jbi.2022.104172

Croplands proximity is associated with amyotrophic lateral sclerosis incidence and age at onset

Auteurs: Umberto Manera, Stefano Callegaro, Antonio Canosa, Francesca Palumbo, Maurizio Grassano, Alessandro Bombaci, Arianna Dagliati, Pietro Bosoni, Margherita Daviddi, Federico Casale, Sara Cabras, Enrico Matteoni, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Rosario Vasta, Andrea Calvo, Adriano Chiò
Publié dans: European Journal of Neurology, Numéro 32, 2025, ISSN 1351-5101
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/ene.16464

Deep learning methods to predict amyotrophic lateral sclerosis disease progression

Auteurs: Corrado Pancotti, Giovanni Birolo, Cesare Rollo, Tiziana Sanavia, Barbara Di Camillo, Umberto Manera, Adriano Chiò, Piero Fariselli
Publié dans: Scientific Reports, 2022, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-022-17805-9

Parallel intersection counting on shared-memory multiprocessors and GPUs

Auteurs: Moreno Marzolla, Giovanni Birolo, Gabriele D’Angelo, Piero Fariselli
Publié dans: Future Generation Computer Systems, Numéro 159, 2024, Page(s) 423-431, ISSN 0167-739X
Éditeur: Elsevier BV
DOI: 10.1016/j.future.2024.05.039

Cities and neuroscience research: A systematic literature review

Auteurs: Leonardo A. Ancora, Diego Andrés Blanco-Mora, Inês Alves, Ana Bonifácio, Paulo Morgado, Bruno Miranda
Publié dans: Frontiers in Psychiatry, Numéro 13, 2024, ISSN 1664-0640
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fpsyt.2022.983352

RelAI: an automated approach to judge pointwise ML prediction reliability

Auteurs: Lorenzo Peracchio, Giovanna Nicora, Enea Parimbelli, Tommaso Mario Buonocore, Eleonora Tavazzi, Roberto Bergamaschi, Arianna Dagliati, Riccardo Bellazzi
Publié dans: International Journal of Medical Informatics, Numéro 197, 2025, Page(s) 105857, ISSN 1386-5056
Éditeur: Elsevier BV
DOI: 10.1016/j.ijmedinf.2025.105857

Adaptive and self-learning Bayesian filtering algorithm to statistically characterize and improve signal-to-noise ratio of heart-rate data in wearable devices

Auteurs: Luca Cossu, Giacomo Cappon, Andrea Facchinetti
Publié dans: Journal of The Royal Society Interface, Numéro 21, 2024, ISSN 1742-5689
Éditeur: The Royal Society
DOI: 10.1098/rsif.2024.0222

Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the <i>TARDBP</i> Pathogenic Variant

Auteurs: Cristina Moglia, Andrea Calvo, Antonio Canosa, Umberto Manera, Rosario Vasta, Francesca Di Pede, Margherita Daviddi, Enrico Matteoni, Maura Brunetti, Luca Sbaiz, Sara Cabras, Salvatore Gallone, Maurizio Grassano, Laura Peotta, Francesca Palumbo, Gabriele Mora, Barbara Iazzolino, Adriano Chio
Publié dans: Neurology, Numéro 102, 2024, ISSN 0028-3878
Éditeur: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000208082

DYNAMITE: Integrating Archetypal Analysis and Process Mining for Interpretable Disease Progression Modelling

Auteurs: Isotta Trescato, Erica Tavazzi, Martina Vettoretti, Roberto Gatta, Rosario Vasta, Adriano Chiò, Barbara Di Camillo
Publié dans: IEEE Journal of Biomedical and Health Informatics, Numéro 28, 2024, Page(s) 7553-7564, ISSN 2168-2194
Éditeur: Institute of Electrical and Electronics Engineers Inc.
DOI: 10.1109/jbhi.2024.3453602

Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats

Auteurs: Chio A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor B, Corrado L, D'Alfonso S, Mazzini L, Calvo A
Publié dans: Journal of Neurology, Neurosurgery & Psychiatry, 2022, ISSN 0022-3050
Éditeur: BMJ Publishing Group
DOI: 10.1136/jnnp-2022-329376

Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries

Auteurs: Falcão de Campos C, Gromicho M, Uysal H, Grosskreutz J, Kuzma-Kozakiewicz M, Oliveira Santos M, Pinto S, Petri S, Swash M, de Carvalho M
Publié dans: Frontiers in Neurology, 2023, ISSN 1664-2295
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fneur.2022.1064619

Impact of diabetes mellitus on the respiratory function of amyotrophic lateral sclerosis patients

Auteurs: Susana Pinto, Miguel Oliveira Santos, Marta Gromicho, Michael Swash, Mamede de Carvalho
Publié dans: European Journal of Neurology, Numéro 31, 2024, ISSN 1351-5101
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/ene.16129

Respiratory phenotypes in amyotrophic lateral sclerosis as determined by respiratory questions on the Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised and their relation to respiratory tests

Auteurs: Pinto S, Santos MO, Gromicho M, Swash M, de Carvalho M
Publié dans: European Journal of Neurology, 2023, ISSN 1351-5101
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/ene.15765

Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

Auteurs: Falcão de Campos Catarina, Gromicho Marta, Uysal Hilmi, Grosskreutz Julian, Kuzma-Kozakiewicz Magdalena, Oliveira Santos Miguel, Pinto Susana, Petri Susanne, Swash Michael, de Carvalho Mamede
Publié dans: Frontiers in Neurology, 2021, ISSN 1664-2295
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fneur.2021.761355

Triclustering-based classification of longitudinal data for prognostic prediction: targeting relevant clinical endpoints in amyotrophic lateral sclerosis

Auteurs: Soares DF, Henriques R, Gromicho M, de Carvalho M, Madeira SC
Publié dans: Scientific Reports, 2023, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-023-33223-x

Withdrawal of mechanical ventilation in amyotrophic lateral sclerosis patients: a multicenter Italian survey

Auteurs: Cristina Moglia, Francesca Palumbo, Simone Veronese, null null, Stefania Angelocola, Paolo Barone, Ilaria Bartolomei, Enrica Bersano, Alessandro Bombaci, Giuseppe Borghero, Sara Cabras, Chiara Cambieri, Elena Canali, Antonio Canosa, Margherita Capasso, Claudia Caponnetto, Patrizio Cardinali, Mario Casmiro, Marco Ceccanti, Adriano Chiò, Monica Consonni, Eleonora Dalla Bella, Fabiola De Marchi, Fil
Publié dans: Neurological Sciences, Numéro 44, 2023, Page(s) 4349-4357, ISSN 1590-1874
Éditeur: Springer Verlag
DOI: 10.1007/s10072-023-06905-7

MUSE-XAE: MUtational Signature Extraction with eXplainable AutoEncoder enhances tumour types classification

Auteurs: Corrado Pancotti, Cesare Rollo, Francesco Codicè, Giovanni Birolo, Piero Fariselli, Tiziana Sanavia
Publié dans: Bioinformatics, Numéro 40, 2024, ISSN 1367-4811
Éditeur: Oxford University Press
DOI: 10.1093/bioinformatics/btae320

Automated pipeline for denoising, missing data processing, and feature extraction for signals acquired via wearable devices in multiple sclerosis and amyotrophic lateral sclerosis applications

Auteurs: Luca Cossu, Giacomo Cappon, Andrea Facchinetti
Publié dans: Frontiers in Digital Health, Numéro 6, 2024, ISSN 2673-253X
Éditeur: Frontiers Media SA
DOI: 10.3389/fdgth.2024.1402943

Editorial: Computational and experimental protein variant interpretation in the era of precision medicine

Auteurs: Tiziana Sanavia, Paola Turina, Silvia Morante, Valerio Consalvi, Arthur M. Lesk, Constantina Bakolitsa, Daniele Dell'Orco
Publié dans: Frontiers in Molecular Biosciences, Numéro 11, 2024, ISSN 2296-889X
Éditeur: Frontiers Media S.A.
DOI: 10.3389/fmolb.2024.1363813

Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients

Auteurs: Oliveira Santos, M.; Gromicho, M.; Pronto-Laborinho, A.; de Carvalho, M
Publié dans: Brain Sciences, 2023, ISSN 2076-3425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci13020220

High serum uric acid levels are protective against cognitive impairment in amyotrophic lateral sclerosis

Auteurs: Barbara Iazzolino, Maurizio Grassano, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Sara Cabras, Stefano Callegaro, Enrico Matteoni, Francesca Di Pede, Francesca Palumbo, Gabriele Mora, Andrea Calvo, Adriano Chiò
Publié dans: Journal of Neurology, Numéro 271, 2024, Page(s) 955-961, ISSN 0340-5354
Éditeur: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-023-12056-8

Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes

Auteurs: Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Emidio Capriotti, Elisa Giorgio, Tiziana Sanavia
Publié dans: Frontiers in Molecular Biosciences, Numéro 8, 2021, ISSN 2296-889X
Éditeur: Frontiers Media S.A
DOI: 10.3389/fmolb.2021.620793

Influence of Model Structures on Predictors of Protein Stability Changes from Single-Point Mutations

Auteurs: Cesare Rollo, Corrado Pancotti, Giovanni Birolo, Ivan Rossi, Tiziana Sanavia, Piero Fariselli
Publié dans: Genes, Numéro 14, 2023, Page(s) 2228, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes14122228

Serum chloride as a respiratory failure marker in amyotrophic lateral sclerosis

Auteurs: Manera U, Grassano M, Matteoni E, Bombaci A, Vasta R, Palumbo F, Torrieri MC, Cugnasco P, Moglia C, Canosa A, Chiò A, Calvo A
Publié dans: Frontiers in Aging Neuroscience, 2023, ISSN 1663-4365
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fnagi.2023.1188827

Disentangling the relationship between social cognition, executive functions and behaviour changes in amyotrophic lateral sclerosis

Auteurs: Francesca Palumbo, Barbara Iazzolino, Stefano Callegaro, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Paolina Salamone, Laura Peotta, Federico Casale, Giuseppe Fuda, Cristina Moglia, Adriano Chio, Andrea Calvo
Publié dans: Journal of Neurology, Neurosurgery &amp; Psychiatry, Numéro 95, 2024, Page(s) 722-729, ISSN 0022-3050
Éditeur: BMJ Publishing Group
DOI: 10.1136/jnnp-2023-332700

Predicting clinical events characterizing the progression of amyotrophic lateral sclerosis via machine learning approaches using routine visits data: a feasibility study

Auteurs: Alessandro Guazzo, Michele Atzeni, Elena Idi, Isotta Trescato, Erica Tavazzi, Enrico Longato, Umberto Manera, Adriano Chió, Marta Gromicho, Inês Alves, Mamede de Carvalho, Martina Vettoretti, Barbara Di Camillo
Publié dans: BMC Medical Informatics and Decision Making, Numéro 24, 2024, ISSN 1472-6947
Éditeur: BioMed Central
DOI: 10.1186/s12911-024-02719-5

Challenges in predicting stabilizing variations: An exploration

Auteurs: Silvia Benevenuta, Giovanni Birolo, Tiziana Sanavia, Emidio Capriotti, Piero Fariselli
Publié dans: Frontiers in Molecular Biosciences, Numéro 9, 2023, ISSN 2296-889X
Éditeur: Frontiers Media S.A
DOI: 10.3389/fmolb.2022.1075570

Presymptomatic geographical distribution of ALS patients suggests the involvement of environmental factors in the disease pathogenesis

Auteurs: Rosario Vasta, S. Callegaro, S. Sgambetterra, S. Cabras, F. Di Pede, F. De Mattei, E. Matteoni, M. Grassano, A. Bombaci, G. De Marco, G. Fuda, G. Marchese, F. Palumbo, A. Canosa, L. Mazzini, F. De Marchi, C. Moglia, U. Manera, A. Chiò, A. Calvo
Publié dans: Journal of Neurology, Numéro 270, 2023, Page(s) 5475-5482, ISSN 0340-5354
Éditeur: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-023-11888-8

Social cognition deficits in amyotrophic lateral sclerosis: A pilot cross-sectional population-based study

Auteurs: Palumbo F, Iazzolino B, Peotta L, Canosa A, Manera U, Grassano M, Casale F, Pellegrino G, Rizzone MG, Vasta R, Moglia C, Chiò A, Calvo A
Publié dans: European Journal of Neurology, 2022, ISSN 1351-5101
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/ene.15388

Corrigendum to “C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal” [Journal of the Neurological Sciences volume 465 (2024), 123208]

Auteurs: Cláudia Santos Silva, Marta Gromicho, Sara Simão, Ana Catarina Pronto-Laborinho, Inês Alves, Susana Pinto, Miguel Oliveira Santos, Mamede de Carvalho
Publié dans: Journal of the Neurological Sciences, Numéro 468, 2025, Page(s) 123363, ISSN 0022-510X
Éditeur: Elsevier BV
DOI: 10.1016/j.jns.2024.123363

Conference proceedings (4)

Design and Optimization of REST Services for Performance and Scalability in Provision of Big Environmental Data to Exploratory Analytics of their Effects on Progression of ALS and MS

Auteurs: Urošević V, Dagliati A, Ottaviano M, Vojičić N, Larizza C, Pala D
Publié dans: 2022 IEEE 12th International Conference on Consumer Electronics (ICCE-Berlin), 2022, ISBN 978-1-6654-5676-0
Éditeur: IEEE
DOI: 10.1109/icce-berlin56473.2022.9937100

iDPP@ CLEF 2023: The Intelligent Disease Progression Prediction Challenge

Auteurs: Aidos H, Bergamaschi R, Cavalla P, Chiò A, Dagliati A, Di Camillo B, de Carvalho M, Ferro N, Fariselli P, García Dominguez JM, Madeira SC, Tavazzi E
Publié dans: Advances in Information Retrieval, 2023, ISBN 978-3-031-28241-6
Éditeur: Springer
DOI: 10.1007/978-3-031-28241-6_57

Novel Interactive BRAINTEASER Tools for Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) Management

Auteurs: Gonzalez-Martinez S, Cabrera-Umpiérrez MF, Ottavian M, Urošević V, Vojičić N, Spasojević S, Milićević O
Publié dans: Participative Urban Health and Healthy Aging in the Age of AI, 2022, ISBN 978-3-031-09593-1
Éditeur: Springer International Publishing
DOI: 10.1007/978-3-031-09593-1_26

BRAINTEASER Architecture for Integration of AI Models and Interactive Tools for Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) Progression Prediction and Management

Auteurs: Vladimir Urošević, Nikola Vojičić, Aleksandar Jovanović, Borko Kostić, Sergio Gonzalez-Martinez, María Fernanda Cabrera-Umpiérrez, Manuel Ottaviano, Luca Cossu, Andrea Facchinetti, Giacomo Cappon
Publié dans: Lecture Notes in Computer Science, Digital Health Transformation, Smart Ageing, and Managing Disability, 2023, Page(s) 16-25
Éditeur: Springer Nature Switzerland
DOI: 10.1007/978-3-031-43950-6_2