KIAA0586 is Mutated in Joubert Syndrome
Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Dempsey, Jennifer C., Sharma, Vivek A., Ishak, Gisele E., Boyle, Evan A., Wilson, Meredith, Marques Lourenço, Charles, Arslan, Mutluay, Shendure, Jay, Doherty, Dan
Published in Human mutation (01.09.2015)
Published in Human mutation (01.09.2015)
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Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E, Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I, Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A, Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea
Published in Nature (London) (01.04.2021)
Published in Nature (London) (01.04.2021)
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Journal Article
New mutations in the ATM gene and clinical data of 25 AT patients
Demuth, Ilja, Dutrannoy, Véronique, Marques, Wilson, Neitzel, Heidemarie, Schindler, Detlev, Dimova, Petja S., Chrzanowska, Krystyna H., Bojinova, Veneta, Gregorek, Hanna, Graul-Neumann, Luitgard M., von Moers, Arpad, Schulze, Ilka, Nicke, Marion, Bora, Elcin, Cankaya, Tufan, Oláh, Éva, Kiss, Csongor, Bessenyei, Beáta, Szakszon, Katalin, Gruber-Sedlmayr, Ursula, Kroisel, Peter Michael, Sodia, Sigrun, Goecke, Timm O., Dörk, Thilo, Digweed, Martin, Sperling, Karl, de Sá, Joaquim, Lourenco, Charles Marques, Varon, Raymonda
Published in Neurogenetics (01.11.2011)
Published in Neurogenetics (01.11.2011)
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Journal Article
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms
Dittner-Moormann, Sabine, Lourenco, Charles Marques, Reunert, Janine, Nishinakamura, Ryuichi, Tanaka, Satomi S, Werner, Claudius, Debus, Volker, Zimmer, Klaus-Peter, Wetzel, Gabriele, Naim, Hassan Y, Wada, Yoshinao, Rust, Stephan, Marquardt, Thorsten
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
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Journal Article
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study
Welford, Richard W D, Garzotti, Marco, Marques Lourenço, Charles, Mengel, Eugen, Marquardt, Thorsten, Reunert, Janine, Amraoui, Yasmina, Kolb, Stefan A, Morand, Olivier, Groenen, Peter
Published in PloS one (05.12.2014)
Published in PloS one (05.12.2014)
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Journal Article
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy
Nemethova, Martina, Radvanszky, Jan, Kadasi, Ludevit, Ascher, David B, Pires, Douglas E V, Blundell, Tom L, Porfirio, Berardino, Mannoni, Alessandro, Santucci, Annalisa, Milucci, Lia, Sestini, Silvia, Biolcati, Gianfranco, Sorge, Fiammetta, Aurizi, Caterina, Aquaron, Robert, Alsbou, Mohammed, Lourenço, Charles Marques, Ramadevi, Kanakasabapathi, Ranganath, Lakshminarayan R, Gallagher, James A, van Kan, Christa, Hall, Anthony K, Olsson, Birgitta, Sireau, Nicolas, Ayoob, Hana, Timmis, Oliver G, Sang, Kim-Hanh Le Quan, Genovese, Federica, Imrich, Richard, Rovensky, Jozef, Srinivasaraghavan, Rangan, Bharadwaj, Shruthi K, Spiegel, Ronen, Zatkova, Andrea
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Journal Article
The expanding clinical and genetic spectrum of ATP1A3-related disorders
Rosewich, Hendrik, Ohlenbusch, Andreas, Huppke, Peter, Schlotawa, Lars, Baethmann, Martina, Carrilho, Inês, Fiori, Simona, Lourenço, Charles Marques, Sawyer, Sarah, Steinfeld, Robert, Gärtner, Jutta, Brockmann, Knut
Published in Neurology (18.03.2014)
Published in Neurology (18.03.2014)
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Journal Article
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
Saadi, Abdelkrim, Navarro, Claire, Ozalp, Ozge, Lourenco, Charles Marques, Fayek, Racha, Da Silva, Nathalie, Chaouch, Athmane, Benahmed, Meryem, Kubisch, Christian, Munnich, Arnold, Lévy, Nicolas, Roll, Patrice, Pacha, Lamia Ali, Chaouch, Malika, Lessel, Davor, De Sandre‐Giovannoli, Annachiara
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Journal Article
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Shapiro, Elsa, Lourenço, Charles Marques, Mungan, Neslihan Onenli, Muschol, Nicole, O'Neill, Cara, Vijayaraghavan, Suresh
Published in Orphanet journal of rare diseases (08.07.2019)
Published in Orphanet journal of rare diseases (08.07.2019)
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Journal Article
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
Renaud, Mathilde, Moreira, Maria-Céu, Ben Monga, Bondo, Rodriguez, Diana, Debs, Rabab, Charles, Perrine, Chaouch, Malika, Ferrat, Farida, Laurencin, Chloé, Vercueil, Laurent, Mallaret, Martial, M'Zahem, Abderrahim, Pacha, Lamia Ali, Tazir, Meriem, Tilikete, Caroline, Ollagnon, Elisabeth, Ochsner, François, Kuntzer, Thierry, Jung, Hans H, Beis, Jean-Marie, Netter, Jean-Claude, Djamshidian, Atbin, Bower, Mattew, Bottani, Armand, Walsh, Richard, Murphy, Sinead, Reiley, Thomas, Bieth, Éric, Roelens, Filip, Poll-The, Bwee Tien, Lourenço, Charles Marques, Jardim, Laura Bannach, Straussberg, Rachel, Landrieu, Pierre, Roze, Emmanuel, Thobois, Stéphane, Pouget, Jean, Guissart, Claire, Goizet, Cyril, Dürr, Alexandra, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Published in JAMA neurology (01.04.2018)
Published in JAMA neurology (01.04.2018)
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Journal Article
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Rezende Filho, Flávio Moura, Bremner, Fion, Pedroso, José Luiz, Andrade, João Brainer Clares, Marianelli, Bruna Ferraço, Lourenço, Charles Marques, Marques‐Júnior, Wilson, França, Marcondes C., Kok, Fernando, Sallum, Juliana M.F., Parkinson, Michael H., Barsottini, Orlando G., Giunti, Paola
Published in Movement disorders (01.09.2021)
Published in Movement disorders (01.09.2021)
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Journal Article
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
Lourenço, Charles Marques, Sallum, Juliana Maria Ferraz, Pereira, Alessandra Marques, Girotto, Paula Natale, Kok, Fernando, Vilela, Daniel Reda Fenga, Barron, Erika, Pessoa, André, Oliveira, Bibiana Mello de
Published in Arquivos de neuro-psiquiatria (01.05.2024)
Published in Arquivos de neuro-psiquiatria (01.05.2024)
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Journal Article
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charles, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A B, Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria
Published in Frontiers in neurology (04.12.2018)
Published in Frontiers in neurology (04.12.2018)
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Journal Article
De novo DNM1 mutations in two cases of epileptic encephalopathy
Nakashima, Mitsuko, Kouga, Takeshi, Lourenço, Charles Marques, Shiina, Masaaki, Goto, Tomohide, Tsurusaki, Yoshinori, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Ogata, Kazuhiro, Osaka, Hitoshi, Matsumoto, Naomichi
Published in Epilepsia (Copenhagen) (01.01.2016)
Published in Epilepsia (Copenhagen) (01.01.2016)
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Journal Article
Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective
Lourenco, Charles Marques, Corral, Pablo, Santos, Raul D., Nogueira, Juan Patricio, Mendivil, Carlos O., Santos, José L., Pachajoa, Harry, Bañares, Virginia, Mattos-Velez, Maria Belen
Published in Journal of inborn errors of metabolism and screening (2024)
Published in Journal of inborn errors of metabolism and screening (2024)
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Journal Article
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023
Izar, Maria Cristina de Oliveira, Santos Filho, Raul Dias Dos, Assad, Marcelo Heitor Vieira, Chagas, Antonio Carlos Palandri, Toledo Júnior, Alceu de Oliveira, Nogueira, Ana Cláudia Cavalcante, Souto, Ana Cristina Carneiro Fernandes, Lottenberg, Ana Maria Pitta, Chacra, Ana Paula Marte, Ferreira, Carlos Eduardo Dos Santos, Lourenço, Charles Marques, Valerio, Cynthia Melissa, Cintra, Dennys Esper, Fonseca, Francisco Antonio Helfenstein, Campana, Gustavo Aguiar, Bianco, Henrique Tria, Lima, Josivan Gomes de, Castelo, Maria Helane Costa Gurgel, Scartezini, Marileia, Moretti, Miguel Antonio, Barreto, Natasha Slhessarenko Fraife, Maia, Rayana Elias, Montenegro Junior, Renan Magalhães, Alves, Renato Jorge, Figueiredo, Roberta Marcondes Machado, Fock, Rodrigo Ambrosio, Martinez, Tânia Leme da Rocha
Published in Arquivos brasileiros de cardiologia (01.03.2023)
Published in Arquivos brasileiros de cardiologia (01.03.2023)
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Journal Article
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Published in Orphanet journal of rare diseases (01.11.2020)
Published in Orphanet journal of rare diseases (01.11.2020)
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Journal Article