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

Informazioni relative al progetto

BRAINTEASER

ID dell’accordo di sovvenzione: 101017598

DOI

10.3030/101017598

Progetto chiuso

Data della firma CE 9 Dicembre 2020

Data di avvio 1 Gennaio 2021

Data di completamento 30 Giugno 2025

Finanziato da

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

Costo totale

€ 5 889 190,00

Contributo UE

€ 5 889 190,00

Coordinato da

UNIVERSIDAD POLITECNICA DE MADRID
Spain

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Risultati finali

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

Pubblicazioni

Peer reviewed articles (48)

Temporal stratification of amyotrophic lateral sclerosis patients using disease progression patterns

Autori: Daniela M. Amaral, Diogo F. Soares, Marta Gromicho, Mamede de Carvalho, Sara C. Madeira, Pedro Tomás, Helena Aidos
Pubblicato in: Nature Communications, Numero 15, 2024, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-024-49954-y

Creatine Kinase and Respiratory Decline in Amyotrophic Lateral Sclerosis

Autori: João Pedro Correia, Marta Gromicho, Ana Catarina Pronto-Laborinho, Miguel Oliveira Santos, Mamede de Carvalho
Pubblicato in: Brain Sciences, Numero 14, 2025, Pagina/e 661, ISSN 2076-3425
Editore: 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

Autori: 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
Pubblicato in: Artificial Intelligence in Medicine, 2023, ISSN 0933-3657
Editore: Elsevier BV
DOI: 10.1016/j.artmed.2023.102588

Thyroid dysfunction in Portuguese amyotrophic lateral sclerosis patients

Autori: Santos Silva C, Gromicho M, Oliveira Santos M, Pinto S, Swash M, de Carvalho M
Pubblicato in: Neurological Sciences, 2022, ISSN 1590-1874
Editore: Springer Verlag
DOI: 10.1007/s10072-022-06135-3

Assessing disease progression in ALS: prognostic subgroups and outliers

Autori: Inês Alves, Marta Gromicho, Miguel Oliveira Santos, Susana Pinto, Mamede de Carvalho
Pubblicato in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Numero 26, 2025, Pagina/e 58-63, ISSN 2167-8421
Editore: 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

Autori: 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
Pubblicato in: Annals of Neurology, Numero 96, 2025, Pagina/e 150-158, ISSN 0364-5134
Editore: 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

Autori: Sara Simão, Miguel Oliveira Santos, Marta Gromicho, Isabel Pavão Martins, Mamede De Carvalho
Pubblicato in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Numero 25, 2024, Pagina/e 726-736, ISSN 2167-8421
Editore: Informa Healthcare
DOI: 10.1080/21678421.2024.2385684

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

Autori: Flavio Sartori, Francesco Codicè, Isabella Caranzano, Cesare Rollo, Giovanni Birolo, Piero Fariselli, Corrado Pancotti
Pubblicato in: Genes, Numero 16, 2025, Pagina/e 648, ISSN 2073-4425
Editore: 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)

Autori: 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
Pubblicato in: Brain Sciences, Numero 14, 2025, Pagina/e 157, ISSN 2076-3425
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci14020157

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

Autori: 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
Pubblicato in: Journal of Neurology, Neurosurgery & Psychiatry, 2022, ISSN 0022-3050
Editore: BMJ Publishing Group
DOI: 10.1136/jnnp-2022-328931

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

Autori: 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
Pubblicato in: Neurology, 2023, ISSN 1526-632X
Editore: American Academy of Neurology
DOI: 10.1212/wnl.0000000000207367

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

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

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

Autori: 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
Pubblicato in: Neurology Genetics, Numero 8, 2024, ISSN 2376-7839
Editore: Lippincott Williams & Wilkins (LWW)
DOI: 10.1212/nxg.0000000000200033

BamToCov: an efficient toolkit for sequence coverage calculations

Autori: Giovanni Birolo, Andrea Telatin
Pubblicato in: Bioinformatics, Numero 38, 2023, Pagina/e 2617-2618, ISSN 1367-4803
Editore: Oxford University Press
DOI: 10.1093/bioinformatics/btac125

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

Autori: 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
Pubblicato in: Journal of Biomedical Semantics, Numero 15, 2024, ISSN 2041-1480
Editore: Biomed Central
DOI: 10.1186/s13326-024-00317-y

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

Autori: 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
Pubblicato in: Journal of Neurology, Neurosurgery &amp; Psychiatry, Numero 96, 2025, Pagina/e 100-102, ISSN 0022-3050
Editore: 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

Autori: 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
Pubblicato in: European Journal of Neurology, 2023, ISSN 1351-5101
Editore: Blackwell Publishing Inc.
DOI: 10.1111/ene.15674

Unravelling the instability of mutational signatures extraction via archetypal analysis

Autori: Corrado Pancotti, Cesare Rollo, Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Tiziana Sanavia
Pubblicato in: Frontiers in Genetics, Numero 13, 2023, ISSN 1664-8021
Editore: 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

Autori: Soares DF, Henriques R, Gromicho M, de Carvalho M, Madeira SC
Pubblicato in: Journal of Biomedical Informatics, 2022, ISSN 1532-0464
Editore: Academic Press
DOI: 10.1016/j.jbi.2022.104172

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

Autori: 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
Pubblicato in: European Journal of Neurology, Numero 32, 2025, ISSN 1351-5101
Editore: Blackwell Publishing Inc.
DOI: 10.1111/ene.16464

Deep learning methods to predict amyotrophic lateral sclerosis disease progression

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

Parallel intersection counting on shared-memory multiprocessors and GPUs

Autori: Moreno Marzolla, Giovanni Birolo, Gabriele D’Angelo, Piero Fariselli
Pubblicato in: Future Generation Computer Systems, Numero 159, 2024, Pagina/e 423-431, ISSN 0167-739X
Editore: Elsevier BV
DOI: 10.1016/j.future.2024.05.039

Cities and neuroscience research: A systematic literature review

Autori: Leonardo A. Ancora, Diego Andrés Blanco-Mora, Inês Alves, Ana Bonifácio, Paulo Morgado, Bruno Miranda
Pubblicato in: Frontiers in Psychiatry, Numero 13, 2024, ISSN 1664-0640
Editore: Frontiers Research Foundation
DOI: 10.3389/fpsyt.2022.983352

RelAI: an automated approach to judge pointwise ML prediction reliability

Autori: Lorenzo Peracchio, Giovanna Nicora, Enea Parimbelli, Tommaso Mario Buonocore, Eleonora Tavazzi, Roberto Bergamaschi, Arianna Dagliati, Riccardo Bellazzi
Pubblicato in: International Journal of Medical Informatics, Numero 197, 2025, Pagina/e 105857, ISSN 1386-5056
Editore: 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

Autori: Luca Cossu, Giacomo Cappon, Andrea Facchinetti
Pubblicato in: Journal of The Royal Society Interface, Numero 21, 2024, ISSN 1742-5689
Editore: 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

Autori: 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
Pubblicato in: Neurology, Numero 102, 2024, ISSN 0028-3878
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000208082

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

Autori: Isotta Trescato, Erica Tavazzi, Martina Vettoretti, Roberto Gatta, Rosario Vasta, Adriano Chiò, Barbara Di Camillo
Pubblicato in: IEEE Journal of Biomedical and Health Informatics, Numero 28, 2024, Pagina/e 7553-7564, ISSN 2168-2194
Editore: 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

Autori: 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
Pubblicato in: Journal of Neurology, Neurosurgery & Psychiatry, 2022, ISSN 0022-3050
Editore: BMJ Publishing Group
DOI: 10.1136/jnnp-2022-329376

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

Autori: 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
Pubblicato in: Frontiers in Neurology, 2023, ISSN 1664-2295
Editore: Frontiers Research Foundation
DOI: 10.3389/fneur.2022.1064619

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

Autori: Susana Pinto, Miguel Oliveira Santos, Marta Gromicho, Michael Swash, Mamede de Carvalho
Pubblicato in: European Journal of Neurology, Numero 31, 2024, ISSN 1351-5101
Editore: 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

Autori: Pinto S, Santos MO, Gromicho M, Swash M, de Carvalho M
Pubblicato in: European Journal of Neurology, 2023, ISSN 1351-5101
Editore: Blackwell Publishing Inc.
DOI: 10.1111/ene.15765

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

Autori: 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
Pubblicato in: Frontiers in Neurology, 2021, ISSN 1664-2295
Editore: 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

Autori: Soares DF, Henriques R, Gromicho M, de Carvalho M, Madeira SC
Pubblicato in: Scientific Reports, 2023, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-023-33223-x

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

Autori: 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
Pubblicato in: Neurological Sciences, Numero 44, 2023, Pagina/e 4349-4357, ISSN 1590-1874
Editore: Springer Verlag
DOI: 10.1007/s10072-023-06905-7

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

Autori: Corrado Pancotti, Cesare Rollo, Francesco Codicè, Giovanni Birolo, Piero Fariselli, Tiziana Sanavia
Pubblicato in: Bioinformatics, Numero 40, 2024, ISSN 1367-4811
Editore: 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

Autori: Luca Cossu, Giacomo Cappon, Andrea Facchinetti
Pubblicato in: Frontiers in Digital Health, Numero 6, 2024, ISSN 2673-253X
Editore: Frontiers Media SA
DOI: 10.3389/fdgth.2024.1402943

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

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

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

Autori: Oliveira Santos, M.; Gromicho, M.; Pronto-Laborinho, A.; de Carvalho, M
Pubblicato in: Brain Sciences, 2023, ISSN 2076-3425
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci13020220

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

Autori: 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
Pubblicato in: Journal of Neurology, Numero 271, 2024, Pagina/e 955-961, ISSN 0340-5354
Editore: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-023-12056-8

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

Autori: Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Emidio Capriotti, Elisa Giorgio, Tiziana Sanavia
Pubblicato in: Frontiers in Molecular Biosciences, Numero 8, 2021, ISSN 2296-889X
Editore: Frontiers Media S.A
DOI: 10.3389/fmolb.2021.620793

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

Autori: Cesare Rollo, Corrado Pancotti, Giovanni Birolo, Ivan Rossi, Tiziana Sanavia, Piero Fariselli
Pubblicato in: Genes, Numero 14, 2023, Pagina/e 2228, ISSN 2073-4425
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes14122228

Serum chloride as a respiratory failure marker in amyotrophic lateral sclerosis

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

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

Autori: 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
Pubblicato in: Journal of Neurology, Neurosurgery &amp; Psychiatry, Numero 95, 2024, Pagina/e 722-729, ISSN 0022-3050
Editore: 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

Autori: 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
Pubblicato in: BMC Medical Informatics and Decision Making, Numero 24, 2024, ISSN 1472-6947
Editore: BioMed Central
DOI: 10.1186/s12911-024-02719-5

Challenges in predicting stabilizing variations: An exploration

Autori: Silvia Benevenuta, Giovanni Birolo, Tiziana Sanavia, Emidio Capriotti, Piero Fariselli
Pubblicato in: Frontiers in Molecular Biosciences, Numero 9, 2023, ISSN 2296-889X
Editore: 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

Autori: 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
Pubblicato in: Journal of Neurology, Numero 270, 2023, Pagina/e 5475-5482, ISSN 0340-5354
Editore: 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

Autori: 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
Pubblicato in: European Journal of Neurology, 2022, ISSN 1351-5101
Editore: 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]

Autori: Cláudia Santos Silva, Marta Gromicho, Sara Simão, Ana Catarina Pronto-Laborinho, Inês Alves, Susana Pinto, Miguel Oliveira Santos, Mamede de Carvalho
Pubblicato in: Journal of the Neurological Sciences, Numero 468, 2025, Pagina/e 123363, ISSN 0022-510X
Editore: 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

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

iDPP@ CLEF 2023: The Intelligent Disease Progression Prediction Challenge

Autori: 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
Pubblicato in: Advances in Information Retrieval, 2023, ISBN 978-3-031-28241-6
Editore: Springer
DOI: 10.1007/978-3-031-28241-6_57

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

Autori: Gonzalez-Martinez S, Cabrera-Umpiérrez MF, Ottavian M, Urošević V, Vojičić N, Spasojević S, Milićević O
Pubblicato in: Participative Urban Health and Healthy Aging in the Age of AI, 2022, ISBN 978-3-031-09593-1
Editore: 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

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