Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

por Patterson, Marc C., Mengel, Eugen, Vanier, Marie T., Moneuse, Patrick, Rosenberg, Daniel, Pineda, Mercedes
Publicado 2020

Natural history of Sanfilippo syndrome in Spain

por Delgadillo, Verónica, O’Callaghan, Maria del Mar, Gort, Laura, Coll, Maria Josep, Pineda, Mercedes
Publicado 2013

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

por Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolniková, Miriam, Malinová, Věra, Torres, Juan, Kolb, Stefan A.
Publicado 2019

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective...

por Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A.
Publicado 2019

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

por Wraith, James E., Sedel, Frédéric, Pineda, Mercèdes, Wijburg, Frits A., Hendriksz, Christian J., Fahey, Michael, Walterfang, Mark, Patterson, Marc C., Chadha-Boreham, Harbajan, Kolb, Stefan A.
Publicado 2013

CDKL5 variants: Improving our understanding of a rare neurologic disorder

por Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S., Cobb, Stuart R.
Publicado 2017

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

por Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O’Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels
Publicado 2013

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

por Pineda, Mercedes, Mengel, Eugen, Jahnová, Helena, Héron, Bénédicte, Imrie, Jackie, Lourenço, Charles M., van der Linden, Vanessa, Karimzadeh, Parvaneh, Valayannopoulos, Vassili, Jesina, Pavel, Torres, Juan V., Kolb, Stefan A.
Publicado 2016

Association between coenzyme Q(10) and glucose transporter (GLUT1) deficiency

por Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael
Publicado 2014

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

por Montero, Raquel, Yubero, Delia, Villarroya, Joan, Henares, Desiree, Jou, Cristina, Rodríguez, Maria Angeles, Ramos, Federico, Nascimento, Andrés, Ortez, Carlos Ignacio, Campistol, Jaume, Perez-Dueñas, Belen, O'Callaghan, Mar, Pineda, Mercedes, Garcia-Cazorla, Angeles, Oferil, Jaume Colomer, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia, Meznaric, Marija, Campderros, Laura, Kalko, Susana G., Villarroya, Francesc, Artuch, Rafael, Jimenez-Mallebrera, Cecilia
Publicado 2016

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

por Sáez, Mauricio A., Fernández-Rodríguez, Juana, Moutinho, Catia, Sanchez-Mut, Jose V., Gomez, Antonio, Vidal, Enrique, Petazzi, Paolo, Szczesna, Karolina, Lopez-Serra, Paula, Lucariello, Mario, Lorden, Patricia, Delgado-Morales, Raul, de la Caridad, Olga J., Huertas, Dori, Gelpí, Josep L., Orozco, Modesto, López-Doriga, Adriana, Milà, Montserrat, Perez-Jurado, Luís A., Pineda, Mercedes, Armstrong, Judith, Lázaro, Conxi, Esteller, Manel
Publicado 2016

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

por Jou, Cristina, Ortigoza-Escobar, Juan D., O’Callaghan, Maria M., Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Publicado 2019

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

por Jefferson, Amanda, Leonard, Helen, Siafarikas, Aris, Woodhead, Helen, Fyfe, Sue, Ward, Leanne M., Munns, Craig, Motil, Kathleen, Tarquinio, Daniel, Shapiro, Jay R., Brismar, Torkel, Ben-Zeev, Bruria, Bisgaard, Anne-Marie, Coppola, Giangennaro, Ellaway, Carolyn, Freilinger, Michael, Geerts, Suzanne, Humphreys, Peter, Jones, Mary, Lane, Jane, Larsson, Gunilla, Lotan, Meir, Percy, Alan, Pineda, Mercedes, Skinner, Steven, Syhler, Birgit, Thompson, Sue, Weiss, Batia, Witt Engerström, Ingegerd, Downs, Jenny
Publicado 2016

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

por Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
Publicado 2016

Analysis of the Phenotypes in the Rett Networked Database

por Frullanti, Elisa, Papa, Filomena T., Grillo, Elisa, Clarke, Angus, Ben-Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Bienvenu, Thierry, Armstrong, Judith, Roche Martinez, Ana, Mari, Francesca, Nissenkorn, Andreea, Lo Rizzo, Caterina, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Ravn, Kirstine, Bosnjak, Vlatka Mejaski, Hayek, Joussef, Khajuria, Rajni, Montomoli, Barbara, Cogliati, Francesca, Pintaudi, Maria, Hadzsiev, Kinga, Craiu, Dana, Voinova, Victoria, Djukic, Aleksandra, Villard, Laurent, Renieri, Alessandra
Publicado 2019