AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG) von Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi

Volltext

MECP2 -Related Disorders in Males von Pascual-Alonso, Ainhoa, Martínez-Monseny, Antonio F, Xiol, Clara, Armstrong, Judith

Volltext

Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations von Casas‐Alba, Dídac, Martínez‐Monseny, Antonio, Pino‐Ramírez, Rosa M., Alsina, Laia, Castejón, Esperanza, Navarro‐Vilarrubí, Sergi, Pérez‐Dueñas, Belén, Serrano, Mercedes, Palau, Francesc, García‐Alix, Alfredo

Volltext

Molecular characterization of Spanish patients with MECP2 duplication syndrome von Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith

Volltext

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings von Martínez-Monseny, Antonio F., Edo, Albert, Casas-Alba, Dídac, Izquierdo-Serra, Mercè, Bolasell, Mercè, Conejo, David, Martorell, Loreto, Muchart, Jordi, Carrera, Laura, Ortez, Carlos I., Nascimento, Andrés, Oliva, Baldo, Fernández-Fernández, José M., Serrano, Mercedes

Volltext

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy von Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F, López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M, Serrano, Mercedes

Volltext

Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review von Casas‐Alba, Dídac, López‐Sala, Laura, Pérez‐Ordóñez, Marta, Mari‐Vico, Rosanna, Bolasell, Mercè, Martínez‐Monseny, Antonio F., Muchart, Jordi, Fernández‐Fernández, José M., Martorell, Loreto, Serrano, Mercedes

Volltext

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies von Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O’Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema, Rosenfeld, Jill A., Burrage, Lindsay C.

Volltext

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) von de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes

Volltext

Changes in Parenteral Nutrition During the First Week of Life Influence Early but Not Late Postnatal Growth in Very Low-Birth-Weight Infants von Izquierdo, Montserrat, Martínez-Monseny, Antonio Federico, Pociello, Neus, Gonzalez, Paloma, del Rio, Ruth, Iriondo, Martin, Iglesias-Platas, Isabel

Volltext

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) von de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes

Volltext

Okur‐Chung neurodevelopmental syndrome in a patient from Spain von Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Arjona, César, Bolasell, Mercè, Casano, Paula, Muchart, Jordi, Ramos, Federico, Martorell, Loreto, Palau, Francesc, García‐Alix, Alfredo, Serrano, Mercedes

Volltext

Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions von Ferri-Rufete, David, López-González, Aitor, Casas-Alba, Dídac, Cuadras, Daniel, Palau, Francesc, Martínez-Monseny, Antonio

Volltext

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features von Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

Volltext

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Yuri A., Bosanko, Katherine A., Thomas, Mary Ann, Miller, David T., Cusmano‐Ozog, Kristina, Martinez‐Monseny, Antonio, Curry, Cynthia J., Graham, John M., Velsher, Lea, Bekheirnia, Mir Reza, Seidel, Veronica, Dedousis, Demitrios, Mitchell, Anna L., DiMarino, Amy M., Riess, Angelika, Balasubramanian, Meena, Fish, Jennifer L., Caffrey, Aisling R., Fleischer, Nicole, Pierson, Tyler Mark, Lacro, Ronald V.

Volltext

Pseudoachondroplasia: Descriptions of a de novo and familial case von Casas-Alba, Dídac, Fernández López, Anna, Gean Molins, Esther, Suero Toledano, Patricia, Martínez-Monseny, Antonio

Volltext

Extreme Hyperferritinemia in Dizygotic Twins With Human Parechovirus-3 Infection von Casas-Alba, Dídac, Martínez-Monseny, Antonio, Monfort, Laura, Muñoz-Almagro, Carmen, Cabrerizo, María, Deyà, Àngela, Launes, Cristian

Volltext

Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study von Lourdes, Vega-Hanna, Mario, Sanz-Cuesta, Didac, Casas-Alba, Mercè, Bolasell, Loreto, Martorell, Leticia, Pías, Lucia, Feller Ana, Martínez-Monseny, Antonio Federico, Mercedes, Serrano

Volltext

Unravelling short stature in pediatrics: the crucial role of genetic perspective von Martinez-Monseny, Antonio F

Volltext

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) von Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes

Volltext