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26 results for Matalonga,+Leslie

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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.206-206, Article 206
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Alazami syndrome: the first case of papillary thyroid carcinoma
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-01, Vol.65 (2), p.133-141
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A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1354-1358
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Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.145-145, Article 145
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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.182-189
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580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease
Author / Creator:Ratnaike, Thiloka ; Greene, Daniel ; Paramanov, Ida ; Matalonga, Leslie ; Schon, Katherine ; Ameele, Jelle van den ; Horvath, Rita ; Turro, Ernest ; Chinnery, Patrick
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2022-08, Vol.107 (Suppl 2), p.A224-A224
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Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
Author / Creator:McMacken, Grace ; Lochmüller, Hanns ; Bansagi, Boglarka ; Pyle, Angela ; Lochmüller, Angela ; Chinnery, Patrick F. ; Laurie, Steve ; Beltran, Sergi ; Matalonga, Leslie ; Horvath, Rita
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-12, Vol.267 (12), p.3643-3649
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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-02, Vol.22 (4), p.1549
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Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-03, Vol.24 (7), p.6358
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Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
Author / Creator:Matalonga, Leslie ; Arias, Angela ; Coll, María Josep ; Garcia-Villoria, Judit ; Gort, Laura ; Ribes, Antonia
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.439-446
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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9,...
Author / Creator:de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie ; Horvath, Rita ; Cohen, Enzo ; Nelson, Isabelle ; Rodenburg, Richard J. ; Coenen, Marieke J. H. ; Janssen, Mirian ; Henssen, Dylan ; Gilissen, Christian ; Steyaert, Wouter ; Paramonov, Ida ; Trimouille, Aurelien ; Kleefstra, Tjitske ; Verloes, Alain ; Vissers, Lisenka E. L. M.
Publisher:Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1470-1471
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Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
Author / Creator:Matalonga, Leslie ; Arias, Angela ; Coll, María Josep ; Garcia-Villoria, Judit ; Gort, Laura ; Ribes, Antonia
Publisher:United States
Journal title:Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.439-446
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Author / Creator:Töpf, Ana ; Pyle, Angela ; Griffin, Helen ; Matalonga, Leslie ; Schon, Katherine ; Sickmann, Albert ; Schara-Schmidt, Ulrike ; Hentschel, Andreas ; Chinnery, Patrick F ; Kölbel, Heike ; Roos, Andreas ; Horvath, Rita
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353
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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Author / Creator:de Boer, Elke ; Ockeloen, Charlotte W ; Matalonga, Leslie ; Horvath, Rita ; Rodenburg, Richard J ; Coenen, Marieke J H ; Janssen, Mirian ; Henssen, Dylan ; Gilissen, Christian ; Steyaert, Wouter ; Paramonov, Ida ; Trimouille, Aurélien ; Kleefstra, Tjitske ; Verloes, Alain ; Vissers, Lisenka E L M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1359-1368
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Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons
Author / Creator:Matalonga, Leslie ; Arias, Ángela ; Tort, Frederic ; Ferrer-Cortés, Xènia ; Garcia-Villoria, Judit ; Coll, Maria Josep ; Gort, Laura ; Ribes, Antonia
Publisher:New York: Springer US
Journal title:Neurotherapeutics, 2015-10, Vol.12 (4), p.874-886
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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Author / Creator:de Boer, Elke ; Ockeloen, Charlotte W ; Matalonga, Leslie ; Horvath, Rita ; Rodenburg, Richard J ; Coenen, Marieke J H ; Janssen, Mirian ; Henssen, Dylan ; Gilissen, Christian ; Steyaert, Wouter ; Paramonov, Ida ; Trimouille, Aurélien ; Kleefstra, Tjitske ; Verloes, Alain ; Vissers, Lisenka E L M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1470-1471
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10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020
Author / Creator:Golubnitschaja, Olga ; Topolcan, Ondrej ; Kucera, Radek ; Costigliola, Vincenzo
Publisher:Cham: Springer International Publishing
Journal title:The EPMA journal, 2020-08, Vol.11 (Suppl 1), p.1-133
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Treatment effect of coenzyme Q^sub 10^ and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
Author / Creator:Matalonga, Leslie ; Arias, Angela ; Coll, María Josep ; Garcia-villoria, Judit ; Gort, Laura ; Ribes, Antonia
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.439
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ArticlesPeer ReviewedFull Text
Treatment effect of coenzyme Q 10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
Author / Creator:Matalonga, Leslie ; Arias, Angela ; Coll, María Josep ; Garcia‐Villoria, Judit ; Gort, Laura ; Ribes, Antonia
Journal title:Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.439-446
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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
Author / Creator:Ferrer-Cortès, Xènia ; Font, Aida ; Bujan, Núria ; Navarro-Sastre, Aleix ; Matalonga, Leslie ; Arranz, José Antonio ; Riudor, Encarnació ; del Toro, Mireia ; Garcia-Cazorla, Angels ; Campistol, Jaume ; Briones, Paz ; Ribes, Antonia ; Tort, Frederic
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.841-847
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

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Alazami syndrome: the first case of papillary thyroid carcinoma

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A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

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

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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

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580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease

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Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

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Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

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Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9,...

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Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020

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Treatment effect of coenzyme Q^sub 10^ and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

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Treatment effect of coenzyme Q 10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

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