Position paper on management of personal data in environment and health research in Europe
Eva, Govarts, Liese, Gilles, Stephanie, Bopp, Petr, Holub, Leslie, Matalonga, Roel, Vermeulen, Martine, Vrijheid, Sergi, Beltran, Mette, Hartlev, Sarah, Jones, Laura, Rodriguez Martin, Arnout, Standaert, Morris A., Swertz, Jan, Theunis, Xenia, Trier, Nina, Vogel, Koert, Van Espen, Sylvie, Remy, Greet, Schoeters
Published in Environment international (01.07.2022)
Published in Environment international (01.07.2022)
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Journal Article
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
Codina, Anna, Roldán, Mònica, Natera-de Benito, Daniel, Ortez, Carlos, Planas, Robert, Matalonga, Leslie, Cuadras, Daniel, Carrera, Laura, Exposito, Jesica, Marquez, Jesus, Jimenez-Mallebrera, Cecilia, M Porta, Josep, Nascimento, Andres, Jou, Cristina
Published in International journal of molecular sciences (28.03.2023)
Published in International journal of molecular sciences (28.03.2023)
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Journal Article
Alazami syndrome: the first case of papillary thyroid carcinoma
Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Magnani, Elisa, Rosato, Simonetta, Pollazzon, Marzia, Matalonga, Leslie, Piana, Simonetta, Nicoli, Davide, Baldo, Chiara, Bernasconi, Sergio, Frasoldati, Andrea, Zuffardi, Orsetta, Garavelli, Livia
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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Journal Article
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
Castilla-Vallmanya, Laura, Gürsoy, Semra, Giray-Bozkaya, Özlem, Prat-Planas, Aina, Bullich, Gemma, Matalonga, Leslie, Centeno-Pla, Mónica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna, Urreizti, Roser
Published in International journal of molecular sciences (04.02.2021)
Published in International journal of molecular sciences (04.02.2021)
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Journal Article
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J, Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published in Orphanet journal of rare diseases (12.08.2020)
Published in Orphanet journal of rare diseases (12.08.2020)
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Journal Article
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
Te Paske, Iris B A W, Garcia-Pelaez, José, Sommer, Anna K, Matalonga, Leslie, Starzynska, Teresa, Jakubowska, Anna, van der Post, Rachel S, Lubinski, Jan, Oliveira, Carla, Hoogerbrugge, Nicoline, de Voer, Richarda M
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Journal Article
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J, Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published in Orphanet journal of rare diseases (22.03.2021)
Published in Orphanet journal of rare diseases (22.03.2021)
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Journal Article
Small molecules as therapeutic agents for inborn errors of metabolism
Matalonga, Leslie, Gort, Laura, Ribes, Antonia
Published in Journal of Inherited Metabolic Disease (01.03.2017)
Published in Journal of Inherited Metabolic Disease (01.03.2017)
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Journal Article
Book Review
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI
Saredi, Simona, Gibertini, Sara, Matalonga, Leslie, Farina, Laura, Ardissone, Anna, Moroni, Isabella, Mora, Marina
Published in Neuromuscular disorders : NMD (01.05.2019)
Published in Neuromuscular disorders : NMD (01.05.2019)
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Journal Article
580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease
Ratnaike, Thiloka, Greene, Daniel, Paramanov, Ida, Matalonga, Leslie, Schon, Katherine, Ameele, Jelle van den, Horvath, Rita, Turro, Ernest, Chinnery, Patrick
Published in Archives of disease in childhood (17.08.2022)
Published in Archives of disease in childhood (17.08.2022)
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Journal Article
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Lagorce, David, Lebreton, Emeline, Matalonga, Leslie, Hongnat, Oscar, Chahdil, Maroua, Piscia, Davide, Paramonov, Ida, Ellwanger, Kornelia, Köhler, Sebastian, Robinson, Peter, Graessner, Holm, Beltran, Sergi, Lucano, Caterina, Hanauer, Marc, Rath, Ana
Published in European journal of human genetics : EJHG (01.02.2024)
Published in European journal of human genetics : EJHG (01.02.2024)
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Journal Article
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Published in Journal of neurology (01.12.2020)
Published in Journal of neurology (01.12.2020)
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Journal Article
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
Polavarapu, Kiran, Sunitha, Balaraju, Töpf, Ana, Preethish-Kumar, Veeramani, Thompson, Rachel, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Sanka, Sai Bhargava, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Arunachal, Gautham, Girija, Manu Santhappan, Porter, Anna, Azuma, Yoshiteru, Lorenzoni, Paulo José, Baskar, Dipti, Anjanappa, Ram Murthy, Keertipriya, Madassu, Padmanabh, Hansashree, Harikrishna, Ganaraja Valakunja, Laurie, Steve, Matalonga, Leslie, Horvath, Rita, Nalini, Atchayaram, Lochmüller, Hanns
Published in Brain (London, England : 1878) (04.01.2024)
Published in Brain (London, England : 1878) (04.01.2024)
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Journal Article
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita
Published in Brain (London, England : 1878) (24.05.2022)
Published in Brain (London, England : 1878) (24.05.2022)
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Journal Article
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
Rebelo, Adriana P., Ruiz, Ariel, Dohrn, Maike F., Wayand, Melanie, Farooq, Amjad, Danzi, Matt C., Beijer, Danique, Aaron, Brooke, Vandrovcova, Jana, Houlden, Henry, Matalonga, Leslie, Abreu, Lisa, Rouleau, Guy, Estiar, Mehrdad A., Van de Vondel, Liedewei, Gan-Or, Ziv, Baets, Jonathan, Schüle, Rebecca, Zuchner, Stephan
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Journal Article
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
Polavarapu, Kiran, O'Neil, Daniel, Thompson, Rachel, Spendiff, Sally, Nandeesh, Bevinahalli, Vengalil, Seena, Huddar, Akshata, Baskar, Dipti, Arunachal, Gautham, Kotambail, Ananthapadmanabha, Bhatia, Saloni, Tumulu, Seetam Kumar, Matalonga, Leslie, Töpf, Ana, Laurie, Steven, Zeldin, Joshua, Nashi, Saraswati, Unnikrishnan, Gopikrishnan, Nalini, Atchayaram, Lochmüller, Hanns
Published in Neuromuscular disorders : NMD (01.06.2024)
Published in Neuromuscular disorders : NMD (01.06.2024)
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Journal Article
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Natera-de Benito, Daniel, Pugliese, Alessia, Polavarapu, Kiran, Guergueltcheva, Velina, Tournev, Ivailo, Todorova, Albena, Afonso Ribeiro, Joana, Fernández-Mayoralas, Daniel M., Ortez, Carlos, Martorell, Loreto, Estévez-Arias, Berta, Matalonga, Leslie, Laurie, Steven, Jou, Cristina, Lau, Jarred, Thompson, Rachel, Shen, Xinming, Engel, Andrew G., Nascimento, Andres, Lochmüller, Hanns, Selcen, Duygu
Published in Pediatric neurology (01.08.2024)
Published in Pediatric neurology (01.08.2024)
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Journal Article
ELIXIR‐EXCELERATE: establishing Europe's data infrastructure for the life science research of the future
Harrow, Jennifer, Hancock, John, Blomberg, Niklas, Blomberg, Niklas, Brunak, Søren, Capella‐Gutierrez, Salvador, Durinx, Christine, Evelo, Chris T., Goble, Carole, Gut, Ivo, Ison, Jon, Keane, Thomas, Leskošek, Brane, Matyska, Luděk, McEntyre, Johanna, Miguel, Célia, Navarro, Arcadi, Newhouse, Steven, Nyrönen, Tommi, Palagi, Patricia, Persson, Bengt, Pommier, Cyril, Rambla, Jordi, Roos, Marco, Rustici, Gabriella, Smith, Andrew, Valencia, Alfonso, van Gelder, Celia, Vondrasek, Jiri, Willassen, Nils Peder, Arenas, Juan, Parkinson, Helen, Finn, Robert D, Beltran, Sergi, Matalonga, Leslie, Hurst, Hannah, Kersey, Paul, Lappalainen, Ilkka, Kahlem, Pascal, Saunders, Gary, Sarntivijai, Sirarat, Drysdale, Rachel, Tedds, Johnathan, Lanfear, Jeremy, Harrow, Jennifer
Published in The EMBO journal (15.03.2021)
Published in The EMBO journal (15.03.2021)
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Journal Article
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds
Tiscornia, Gustavo, Vivas, Erika Lorenzo, Matalonga, Leslie, Berniakovich, Ina, Barragán Monasterio, Montserrat, Eguizábal, Cristina, Gort, Laura, González, Federico, Ortiz Mellet, Carmen, García Fernández, José Manuel, Ribes, Antonia, Veiga, Anna, Izpisua Belmonte, Juan Carlos
Published in Human molecular genetics (15.02.2013)
Published in Human molecular genetics (15.02.2013)
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Journal Article
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
Olimpio, Catarina, Paramonov, Ida, Matalonga, Leslie, Laurie, Steven, Schon, Katherine, Polavarapu, Kiran, Kirschner, Janbernd, Schara-Schmidt, Ulrike, Lochmüller, Hanns, Chinnery, Patrick F, Horvath, Rita
Published in Journal of neuromuscular diseases (02.07.2024)
Published in Journal of neuromuscular diseases (02.07.2024)
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Journal Article