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APHP Pitie Salpetriere: Paris, Ile de France, FR

Employment
Source: Self-asserted source
Antonio Atalaia

Works (36)

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet Journal of Rare Diseases
2024-02-14 | Journal article
Contributors: Antonio Atalaia; Dagmar Wandrei; Nawel Lalout; Rachel Thompson; Adrian Tassoni; Peter A. C. ’t Hoen; Dimitrios Athanasiou; Suzie-Ann Baker; Paraskevi Sakellariou; Georgios Paliouras et al.
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Crossref

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Genetics in Medicine
2023 | Journal article
EID:

2-s2.0-85152173255

Part of ISSN: 15300366 10983600
Contributors: Denommé-Pichon, A.-S.; Bruel, A.-L.; Duffourd, Y.; Safraou, H.; Thauvin-Robinet, C.; Tran Mau-Them, F.; Philippe, C.; Vitobello, A.; Denommé-Pichon, A.-S.; Bruel, A.-L. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Human Genetics and Genomics Advances
2023 | Journal article
EID:

2-s2.0-85150337683

Part of ISSN: 26662477
Contributors: Jackson, A.; Lin, S.-J.; Jones, E.A.; Chandler, K.E.; Orr, D.; Moss, C.; Haider, Z.; Ryan, G.; Holden, S.; Harrison, M. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Human Genomics
2023 | Journal article
EID:

2-s2.0-85158030412

Part of ISSN: 14797364 14739542
Contributors: Yaldiz, B.; Kucuk, E.; Hampstead, J.; Hofste, T.; Pfundt, R.; Corominas Galbany, J.; Rinne, T.; Yntema, H.G.; Hoischen, A.; Nelen, M. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Orphanet journal of rare diseases
2023-07-21 | Journal article
Contributors: Fortunato F; Bianchi F; Ricci G; Torri F; Gualandi F; Neri M; Marianna Farnè; Giannini F; Malandrini A; Volpi N et al.
Source: Self-asserted source
Antonio Atalaia

Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1

Neuromuscular Disorders
2022-05 | Journal article
Contributors: Mark J Hamilton; Antonio Atalaia; John McLean; Sarah A Cumming; Jonathan J Evans; Bob Ballantyne; Ravi Jampana; The Scottish Myotonic Dystrophy Consortium; Cheryl Longman; Eric Livingston et al.
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Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (European Journal of Human Genetics, (2021), 29, 9, (1325-1331), 10.1038/s41431-021-00859-0)

European Journal of Human Genetics
2021 | Journal article
EID:

2-s2.0-85116957275

Part of ISSN: 14765438 10184813
Contributors: Zurek, B.; Ellwanger, K.; Vissers, L.E.L.M.; Schüle, R.; Synofzik, M.; Töpf, A.; de Voer, R.M.; Laurie, S.; Matalonga, L.; Gilissen, C. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (European Journal of Human Genetics, (2021), 29, 9, (1337-1347), 10.1038/s41431-021-00852-7)

European Journal of Human Genetics
2021 | Journal article
EID:

2-s2.0-85116958148

Part of ISSN: 14765438 10184813
Contributors: Matalonga, L.; Hernández-Ferrer, C.; Piscia, D.; Cohen, E.; Cuesta, I.; Danis, D.; Denommé-Pichon, A.-S.; Duffourd, Y.; Gilissen, C.; Johari, M. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

European Journal of Human Genetics
2021 | Journal article
EID:

2-s2.0-85114607324

Part of ISSN: 14765438 10184813
Contributors: Schüle, R.; Timmann, D.; Erasmus, C.E.; Reichbauer, J.; Wayand, M.; Baets, J.; Balicza, P.; Chinnery, P.; Dürr, A.; Haack, T. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

European Journal of Human Genetics
2021 | Journal article
EID:

2-s2.0-85105877975

Part of ISSN: 14765438 10184813
Contributors: Schüle, R.; Timmann, D.; Erasmus, C.E.; Reichbauer, J.; Wayand, M.; Baets, J.; Balicza, P.; Chinnery, P.; Dürr, A.; Haack, T. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

Orphanet Journal of Rare Diseases
2021-12 | Journal article
Contributors: Antonio Atalaia; Rachel Thompson; Alberto Corvo; Leigh Carmody; Davide Piscia; Leslie Matalonga; Alfons Macaya; Angela Lochmuller; Bertrand Fontaine; Birte Zurek et al.
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Crossref
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Preclinical Advances of Therapies for Laminopathies

Journal of Clinical Medicine
2021-10-21 | Journal article
Contributors: Louise Benarroch; Enzo Cohen; Antonio Atalaia; Rabah Ben Yaou; Gisèle Bonne; Anne T Bertrand
Source: Self-asserted source
Antonio Atalaia via HAL
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European Journal of Human Genetics
2021-06-01 | Journal article
Contributors: Birte Zurek; Kornelia Ellwanger; Lisenka E L M Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M de Voer; Steven Laurie; Leslie Matalonga; Christian Gilissen et al.
Source: Self-asserted source
Antonio Atalaia via HAL
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

European Journal of Human Genetics
2021-06-01 | Journal article
Contributors: Anna Katharina Sommer; Iris Te Paske; Farid Yavari Dizjikan; Chiara Marini Bettolo; Ivo Glynne Gut; Rabah Ben Yaou; Radka Pourová Kremliková; Jose Garcia Pelaez; Ana Rita Matos; Celina São José et al.
Source: Self-asserted source
Antonio Atalaia via HAL
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Journal of Neuromuscular Diseases
2021-03-05 | Journal article
Contributors: Antonio Atalaia; Rabah Ben Yaou; Karim Wahbi; Annachiara de Sandre-Giovannoli; Corinne Vigouroux; Gisèle Bonne
Source: Self-asserted source
Antonio Atalaia via HAL
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Cognitive behavioural therapy for adults with dissociative seizures (CODES): a pragmatic, multicentre, randomised controlled trial

The Lancet Psychiatry
2020 | Journal article
EID:

2-s2.0-85084755544

Part of ISSN: 22150374 22150366
Contributors: Goldstein, L.H.; Robinson, E.J.; Mellers, J.D.C.; Stone, J.; Carson, A.; Reuber, M.; Medford, N.; McCrone, P.; Murray, J.; Richardson, M.P. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Orphanet Journal of Rare Diseases
2020-12 | Journal article
Contributors: Antonio Atalaia; Rachel Thompson; Alberto Corvo; Leigh Carmody; Davide Piscia; Leslie Matalonga; Alfons Macaya; Angela Lochmuller; Bertrand Fontaine; Birte Zurek et al.
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Crossref
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Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’

Journal of Neuromuscular Diseases
2020-07-31 | Journal article
Contributors: Matthew Jennings; Angela Lochmüller; Antonio Atalaia; Rita Horvath
Source: Self-asserted source
Antonio Atalaia via HAL
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Analysis of the functional capacity outcome measures for myotonic dystrophy

Annals of Clinical and Translational Neurology
2019 | Journal article
EID:

2-s2.0-85069680633

Part of ISSN: 23289503
Contributors: Jimenez-Moreno, A.C.; Nikolenko, N.; Kierkegaard, M.; Blain, A.P.; Newman, J.; Massey, C.; Moat, D.; Sodhi, J.; Atalaia, A.; Gorman, G.S. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Characteristics of 698 patients with dissociative seizures: A UK multicenter study

Epilepsia
2019 | Journal article
EID:

2-s2.0-85074052022

Part of ISSN: 15281167 00139580
Contributors: Goldstein, L.H.; Robinson, E.J.; Reuber, M.; Chalder, T.; Callaghan, H.; Eastwood, C.; Landau, S.; McCrone, P.; Medford, N.; Mellers, J.D.C. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

Brain
2019 | Journal article
EID:

2-s2.0-85072279766

Part of ISSN: 14602156 00068950
Contributors: Flower, M.; Lomeikaite, V.; Ciosi, M.; Cumming, S.; Morales, F.; Lo, K.; Hensman Moss, D.; Jones, L.; Holmans, P.; Monckton, D.G. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1–2 July 2016

Neuromuscular Disorders
2018 | Journal article
EID:

2-s2.0-85043537464

Part of ISSN: 18732364 09608966
Contributors: Wood, L.; Bassez, G.; van Engelen, B.; Lochmüller, H.; Schoser, B.; Atalaia, A.; Balabanov, P.; Bassez, G.; Boentert, M.; Charlton, J. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)

Journal of Neurology
2017 | Journal article
EID:

2-s2.0-85011691139

Part of ISSN: 14321459 03405354
Contributors: DiPaolo, G.; Jimenez-Moreno, C.; Nikolenko, N.; Atalaia, A.; Monckton, D.G.; Guglieri, M.; Lochmüller, H.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

Journal of Neurology
2017 | Journal article
EID:

2-s2.0-85017264756

Part of ISSN: 14321459 03405354
Contributors: Wood, L.; Cordts, I.; Atalaia, A.; Marini-Bettolo, C.; Maddison, P.; Phillips, M.; Roberts, M.; Rogers, M.; Hammans, S.; Straub, V. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

How the EUCERD Joint Action supported initiatives on Rare Diseases

European Journal of Medical Genetics
2017-03 | Journal article
Contributors: Stephen Lynn; Victoria Hedley; Antonio Atalaia; Teresinha Evangelista; Kate Bushby
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Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study

Journal of Neuromuscular Diseases
2016 | Journal article
EID:

2-s2.0-85009732815

Part of ISSN: 22143602 22143599
Contributors: West, S.D.; Lochmüller, H.; Hughes, J.; Atalaia, A.; Marini-Bettolo, C.; Baudouin, S.V.; Anderson, K.N.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

Orphanet Journal of Rare Diseases
2016 | Journal article
EID:

2-s2.0-84959321889

Part of ISSN: 17501172
Contributors: Evangelista, T.; Hedley, V.; Atalaia, A.; Johnson, M.; Lynn, S.; Le Cam, Y.; Bushby, K.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27-29 June 2014, Naarden, The Netherlands

Neuromuscular Disorders
2015 | Journal article
EID:

2-s2.0-84927910736

Part of ISSN: 18732364 09608966
Contributors: Sansone, V.A.; Gagnon, C.; Atalaia , A.; Boentert, M.; Duboc, D.; Falcier, E.; Gallais, B.; Heatwole, C.; Iatomasi, M.; Orlikowski, D. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

RARE-Bestpractices: A platform for sharing best practices for the management of rare diseases

Orphanet Journal of Rare Diseases
2014 | Journal article
EID:

2-s2.0-84928747941

Part of ISSN: 17501172
Contributors: Taruscio, D.; Morciano, C.; Laricchiuta, P.; Mincarone, P.; Palazzo, F.; Leo, C.G.; Sabina, S.; Guarino, R.; Auld, J.; Sejersen, T. et al.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Respiratory apraxia in amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis
2007 | Journal article
EID:

2-s2.0-34249998652

Part of ISSN: 17482968 1471180X
Contributors: Pinto, S.; Pinto, A.; Atalaia, António; Peralta, R.; de Carvalho, M.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Sleep characteristics of amyotrophic lateral sclerosis in patients with preserved diaphragmatic function

Amyotrophic Lateral Sclerosis
2007 | Journal article
EID:

2-s2.0-34247254994

Part of ISSN: 17482968 1471180X
Contributors: Atalaia, A.; De Carvalho, M.; Evangelista, T.; Pinto, A.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Evidence for central abnormality in respiratory control in primary lateral sclerosis

Amyotrophic Lateral Sclerosis
2006 | Journal article
EID:

2-s2.0-33645119713

Part of ISSN: 17482968 1471180X
Contributors: Gouveia, R.G.; Pinto, A.; Evangelista, T.; Atalaia, A.; Conceição, I.; de Carvalho, M.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Upper limb tremor induced by peripheral nerve injury

Neurology
2006 | Journal article
EID:

2-s2.0-33845401610

Part of ISSN: 00283878
Contributors: Costa, J.; Henriques, R.; Barroso, C.; Ferreira, J.; Atalaia, A.; De Carvalho, M.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Seizure Triggering Factors According to Patients,Factures Desencadeantes de Crises Epilépticas, de Acordo com os Doentes

Acta Medica Portuguesa
1997 | Journal article
EID:

2-s2.0-2542587884

Part of ISSN: 16460758
Contributors: Garcia, C.; Pinto, F.; Pimentel, J.; Ferro, J.; Martins, A.; Atalaia, A.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Sleep cycles and alpha-delta sleep in fibromyalgia syndrome

Journal of Rheumatology
1994 | Journal article
EID:

2-s2.0-0028318423

Part of ISSN: 0315162X
Contributors: Branco, J.; Atalaia, A.; Paiva, T.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Stroke in an HIV-infected patient

Journal of Neurology
1992 | Journal article
EID:

2-s2.0-0026700983

Part of ISSN: 03405354 14321459
Contributors: Atalaia, A.; Ferrol, J.; Antunes, F.
Source: Self-asserted source
Antonio Atalaia via Scopus - Elsevier

Peer review (6 reviews for 5 publications/grants)

Review activity for Communications medicine. (1)
Review activity for European journal of human genetics (1)
Review activity for Journal of affective disorders reports. (2)
Review activity for Journal of rare diseases. (1)
Review activity for Orphanet journal of rare diseases. (1)