MARIA OBON FERRER

Trastornos del neurodesarrollo , Patología Cerebrovascular

Vera-Cáceres C, Nersesyan N, Obon M, Terceño M, Serena J, Álvarez-Cienfuegos J, Xuclà T, Bashir S, Silva Y

Iatrogenic Cerebral Amyloid Angiopathy: Two Case Reports to Explore Clinical Heterogeneity and Pathological Patterns.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 2025, 34, 107969-107969 dx.doi.org/10.1016/j.jstrokecerebrovasdis.2024.107969

Trastornos del neurodesarrollo

Mademont-Soler I, Castells-Sarret N, Cisneros A, Foj L, Benavent-Bofill C, Xunclà M, Viñas-Jornet M, Ros A, Rey N, Blanco I, López-Ortega R, Obón M, Plaja A

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.

PRENATAL DIAGNOSIS, 2025, 45, 326-347 dx.doi.org/10.1002/pd.6746

Trastornos del neurodesarrollo , Neurodegenerativas y neuroinflamación

Genís, D, Alemany, B, Pellerin, D, Brais, B, Dicaire, MJ, Volpini, V, Campos, B, Corral, J, Gardenyes, J, de Jorge, L, San Nicolás, H, Buxó, M, Sancho, JM, Obon, M, Roig, C, Rodriguez-Revenga, L, Alvarez-Mora, MI, Danzi, MC, Houlden, H, Zuchner, S, Márquez, F, Torrenta, LRI

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

JOURNAL OF NEUROLOGY, 2025, 272, 235-235 dx.doi.org/10.1007/s00415-025-12964-x

Trastornos del neurodesarrollo

Mauri S, Nieto-Moragas J, Obón M, Oriola J

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Jcem Case Reports, 2024, 2, 153-153 dx.doi.org/10.1210/jcemcr/luad153

Trastornos del neurodesarrollo , Investigación Metabólica y Maternofetal

Martínez-Diago, C, Mademont-Soler, I, Bonmati, A, Rodo, C, Alberch, A, Obon, M, Fuertes, B, Maroto, A

Novel variant in <i>ACTA1</i> identified in a fetus with akinesia deformation sequence and cortical development delay

PRENATAL DIAGNOSIS, 2024, 44, 996-998 dx.doi.org/10.1002/pd.6568

Trastornos del neurodesarrollo , Neurodegenerativas y neuroinflamación , Genética Cardiovascular

Mademont-Soler I, Esteba-Castillo S, Jiménez-Xifra A, Alemany B, Ribas-Vidal N, Cutillas M, Coll M, Pinsach ML, Pagans S, Alcalde M, Viñas-Jornet M, Montero-Vale M, de Castro-Miró M, Rodríguez J, Armengol L, Queralt X, Obón M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Molecular genetics & genomic medicine, 2024, 12, 2475-2475 dx.doi.org/10.1002/mgg3.2475

Trastornos del neurodesarrollo

Saiz-Sierra L, Marull Arnall A, Nieto-Moragas J, Deulofeu M, Jiménez Romero O, Mademont I, Obón Ferrer M, Serrando Querol MT

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

ADVANCES IN LABORATORY MEDICINE / AVANCES EN MEDICINA DE LABORATORIO, 2024, 5, 221-225 dx.doi.org/10.1515/almed-2023-0136

Trastornos del neurodesarrollo

Saiz-Sierra L, Marull Arnall A, Nieto-Moragas J, Deulofeu M, Jiménez Romero O, Mademont I, Obón Ferrer M, Serrando Querol MT

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso.

ADVANCES IN LABORATORY MEDICINE / AVANCES EN MEDICINA DE LABORATORIO, 2024, 5, 226-230 dx.doi.org/10.1515/almed-2024-0016

Trastornos del neurodesarrollo , Neurodegenerativas y neuroinflamación

Mademont-Soler, I, Esteba-Castillo, S, Nieto-Moragas, J, Alemany, B, Rodríguez, J, de Castro-Miró, M, Montero-Vale, MM, Cherino, A, Cutillas, M, Armengol, L, Queralt, X, Obón, M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32, 210-211

Trastornos del neurodesarrollo

Mademont-Soler, I, Camós-Carreras, M, Palacín, A, Casellas-Vidal, D, Hernández-Gallego, G, Garrido, C, Queralt, X, Esteba-Castillo, S, Obón, M

Additional Evidence of ERBB4 as a Haploinsufficient Gene Associated with Neurodevelopmental Disorders

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32, 1496-1497

Directori

Publicacions

Iatrogenic Cerebral Amyloid Angiopathy: Two Case Reports to Explore Clinical Heterogeneity and Pathological Patterns.

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Novel variant in <i>ACTA1</i> identified in a fetus with akinesia deformation sequence and cortical development delay

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Additional Evidence of ERBB4 as a Haploinsufficient Gene Associated with Neurodevelopmental Disorders

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