Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene
Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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Journal Article
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants
Mayo, Sonia, Gómez-Manjón, Irene, Marco-Hernández, Ana Victoria, Fernández-Martínez, Francisco Javier, Camacho, Ana, Martínez, Francisco
Published in International journal of molecular sciences (23.03.2023)
Published in International journal of molecular sciences (23.03.2023)
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Journal Article
New variants expand the neurological phenotype of COQ7 deficiency
Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro, del Toro, Mireia, Garcia‐Cazorla, Angels, Julia‐Palacios, Natalia A., Jou, Cristina, Yubero, Delia, López, Luis Carlos, Hernández Camacho, Juan Diego, López Lluch, Guillermo, Ballesteros Simarro, Manuel, Rodríguez Aguilera, Juan Carlos, Calvo, Gloria Brea, Cascajo Almenara, María Victoria, Artuch, Rafael, Santos‐Ocaña, Carlos
Published in Journal of inherited metabolic disease (08.07.2024)
Published in Journal of inherited metabolic disease (08.07.2024)
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Journal Article
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability
Marco Hernández, Ana Victoria, Caro, Alfonso, Montoya Filardi, Alejandro, Tomás Vila, Miguel, Monfort, Sandra, Beseler Soto, Beatriz, Nieto‐Barceló, Juan José, Martínez, Francisco
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Martínez-Matilla, Marina, Ferre-Fernández, Jesús José, Aparisi, María José, Marco-Hernández, Ana Victoria, Cerón, Juan Antonio, Crow, Yanick J., Martínez-Castellano, Francisco, Tomás-Vila, Miguel, Pedrola, Laia
Published in Pediatric neurology (01.11.2020)
Published in Pediatric neurology (01.11.2020)
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Journal Article
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco
Published in Frontiers in neurology (30.11.2021)
Published in Frontiers in neurology (30.11.2021)
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Journal Article
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1 - and SLC2A1 -Related Disorders
Kegele, Josua, Krüger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Münchau, Alexander, Lerche, Holger, Lauxmann, Stephan
Published in Frontiers in neurology (08.07.2021)
Published in Frontiers in neurology (08.07.2021)
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Journal Article
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
Marco-Hernández, Ana Victoria, Caro-Llopis, Alfonso, Rubio Sánchez, Pilar, Martínez Martínez, Juan Carlos, Tomás Vila, Miguel, Monfort, Sandra, Martínez, Francisco
Published in Journal of child neurology (01.04.2022)
Published in Journal of child neurology (01.04.2022)
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Journal Article
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Nieto-Barcelo, Juan Jose, Gonzalez Montes, Noelia, Gonzalo Alonso, Isabel, Martinez, Francisco, Aparisi, Maria Jose, Martinez-Matilla, Marina, Marco Hernandez, Ana Victoria, Tomás Vila, Miguel
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2023)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2023)
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Journal Article
Secuelas neurológicas en pacientes con infección congénita por citomegalovirus
de Juan Gallach, Alba, Alemany Albert, Marta, Marco Hernández, Ana Victoria, Boronat González, Nuria, Cernada Badía, María, Tomás Vila, Miguel
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2020)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2020)
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Journal Article
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Nieto-Barcelo, Juan Jose, Gonzalez Montes, Noelia, Gonzalo Alonso, Isabel, Martinez, Francisco, Aparisi, Maria Jose, Martinez-Matilla, Marina, Marco Hernandez, Ana Victoria, Tomás Vila, Miguel
Published in Journal of pediatric genetics (01.06.2023)
Published in Journal of pediatric genetics (01.06.2023)
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Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente
Tomás Vila, Miguel, Menor Serrano, Francisco, Ley Martos, Myriam, Chumillas Luján, María José, Marco Hernández, Ana Victoria, Barbero Aguirre, Pedro
Published in Revista de neurologiá (2014)
Published in Revista de neurologiá (2014)
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Journal Article
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco
Published in Frontiers in neurology (01.01.2021)
Published in Frontiers in neurology (01.01.2021)
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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Martínez-Matilla, Marina, Ferre-Fernández, Jesús José, Aparisi, María José, Marco-Hernández, Ana Victoria, Cerón, Juan Antonio, Crow, Yanick J, Martínez-Castellano, Francisco, Tomás-Vila, Miguel, Pedrola, Laia
Published in Pediatric neurology (01.11.2020)
Published in Pediatric neurology (01.11.2020)
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