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

Livrables

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

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

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

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

Visual identity, website and communication package

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

Publications

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

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

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

The flail-arm syndrome: the influence of phenotypic features

Auteurs: Gromicho M, Santos MO, Pinto S, Swash M, De Carvalho M
Publié dans: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023, ISSN 2167-9223
Éditeur: Taylor & Francis
DOI: 10.1080/21678421.2022.2164205

Respiratory onset in amyotrophic lateral sclerosis: clinical features and spreading pattern

Auteurs: Susana Pinto, Marta Gromicho, Miguel Oliveira Oliveira Santos, Michael Swash, Mamede De Carvalho
Publié dans: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022, ISSN 2167-9223
Éditeur: Taylor & Francis
DOI: 10.1080/21678421.2022.2067777

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

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

Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients

Auteurs: Vasta R, Callegaro S, Grassano M, Canosa A, Cabras S, Di Pede F, Matteoni E, De Mattei F, Casale F, Salamone P, Mazzini L, De Marchi F, Moglia C, Calvo A, Chiò A, Manera U
Publié dans: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022, ISSN 2167-9223
Éditeur: Taylor & Francis
DOI: 10.1080/21678421.2022.2142800

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

Mild dysphagia does not influence survival in ventilated amyotrophic lateral sclerosis patients

Auteurs: Santos MO, Gromicho M, Pinto S, Swash M, de Carvalho M
Publié dans: Journal of the Neurological Sciences, 2022, ISSN 0022-510X
Éditeur: Elsevier BV
DOI: 10.1016/j.jns.2022.120388

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

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

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

Clinical characteristics in amyotrophic lateral sclerosis with Sub-Saharan Africa ancestry – A Portuguese hospital-based cohort study

Auteurs: Santos MO, Gromicho M, Pinto S, Pronto-Laborinho AC, de Carvalho M
Publié dans: Clinical Neurology and Neurosurgery, 2023, ISSN 0303-8467
Éditeur: Elsevier BV
DOI: 10.1016/j.clineuro.2023.107674

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

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

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