Obsessive-compulsive disorder in a patient with SCA type 1

par Ataliba, Gabriela Santana, Mesquita, Leonardo Mendes, Lourenço, Charles Marques, Dias, Fernando Machado Vilhena
Publié 2020

Obsessive-compulsive disorder in a patient with SCA type 1

par Ataliba, Gabriela Santana, Mesquita, Leonardo Mendes, Lourenço, Charles Marques, Dias, Fernando Machado Vilhena
Publié 2020

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

par Shapiro, Elsa, Lourenço, Charles Marques, Mungan, Neslihan Onenli, Muschol, Nicole, O’Neill, Cara, Vijayaraghavan, Suresh
Publié dans Orphanet J Rare Dis (2019)

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

par Velho, Renata Voltolini, De Pace, Raffaella, Klünder, Sarah, Sperb-Ludwig, Fernanda, Lourenço, Charles Marques, Schwartz, Ida V. D., Braulke, Thomas, Pohl, Sandra
Publié dans Hum Mol Genet (2015)

Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation.

par Ng, Bobby G., Lourenço, Charles Marques, Losfeld, Marie-Estelle, Buckingham, Kati J., Kircher, Martin, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Publié dans J Inherit Metab Dis (2019)

KIAA0586 is mutated in Joubert syndrome

par Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Dempsey, Jennifer C., Sharma, Vivek A., Ishak, Gisele E., Boyle, Evan A, Wilson, Meredith, Lourenço, Charles Marques, Arslan, Mutluay, Shendure, Jay, Doherty, Dan
Publié dans Hum Mutat (2015)

Novel clinical and genetic insight into CXorf56-associated intellectual disability

par Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.
Publié dans Eur J Hum Genet (2019)

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

par Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, de Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto
Publié dans JIMD Rep (2019)

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

par D’Angelo, Carla Sustek, Varela, Monica Castro, de Castro, Claudia Irene Emílio, Otto, Paulo Alberto, Perez, Ana Beatriz Alvarez, Lourenço, Charles Marques, Kim, Chong Ae, Bertola, Debora Romeo, Kok, Fernando, Garcia-Alonso, Luis, Koiffmann, Celia Priszkulnik
Publié dans Mol Cytogenet (2018)

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

par Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Publié 2012

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

par Faber, Ingrid, Martinez, Alberto Rolim Muro, de Rezende, Thiago Junqueira Ribeiro, Martins, Carlos Roberto, Martins, Melina Pazian, Lourenço, Charles Marques, Marques, Wilson, Montecchiani, Celeste, Orlacchio, Antonio, Pedroso, Jose Luiz, Barsottini, Orlando Graziani Povoas, Lopes-Cendes, Íscia, França, Marcondes Cavalcante
Publié dans Neuroimage Clin (2018)

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

par Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach
Publié 2012

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

par Synofzik, Matthis, Gonzalez, Michael A., Lourenco, Charles Marques, Coutelier, Marie, Haack, Tobias B., Rebelo, Adriana, Hannequin, Didier, Strom, Tim M., Prokisch, Holger, Kernstock, Christoph, Durr, Alexandra, Schöls, Ludger, Lima-Martínez, Marcos M., Farooq, Amjad, Schüle, Rebecca, Stevanin, Giovanni, Marques, Wilson, Züchner, Stephan
Publié 2014

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

par 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
Publié dans Orphanet J Rare Dis (2020)

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

par Dornelles, Alícia Dorneles, de Camargo Pinto, Louise Lapagesse, de Paula, Ana Carolina, Steiner, Carlos Eduardo, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne Dain Gandelman, Ribeiro, Erlane Marques, Valadares, Eugênia Ribeiro, Goulart, Isabela, Neves de Souza, Isabel C., da Costa Neri, João Ivanildo, Santana-da-Silva, Luiz Carlos, Silva, Luiz Roberto, Ribeiro, Márcia, de Oliveira Sobrinho, Ruy Pires, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein
Publié 2014

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

par Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, Rick, Hoogeboom, Jeanette M, Mortier, Geert R, Titheradge, Hannah, Brueton, Louise, Starr, Lois, Stark, Zornitza, Ockeloen, Charlotte, Lourenco, Charles Marques, Blair, Ed, Hobson, Emma, Hurst, Jane, Maystadt, Isabelle, Destrée, Anne, Girisha, Katta M, Miller, Michelle, Dietz, Harry C, Loeys, Bart, Van Laer, Lut
Publié dans Eur J Hum Genet (2015)

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

par 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
Publié 2013

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

par Schöls, Ludger, Rattay, Tim W, Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J, Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M, Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca
Publié dans Brain (2017)

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

par 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.
Publié dans Am J Hum Genet (2014)

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

par 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
Publié dans JAMA Neurol (2018)