Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
Martín‐Jiménez, Paloma, Fuenmayor‐Fernández de la Hoz, Carlos Pablo de, Hernández‐Laín, Aurelio, Arteche‐López, Ana, Quesada‐Espinosa, Juan Francisco, Voth, Ana Hernández, Vesperinas, Ana, Olivé, Montse, Domínguez‐González, Cristina
Published in Muscle & nerve (01.10.2022)
Published in Muscle & nerve (01.10.2022)
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Journal Article
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Hernández-Laín, Aurelio, Olivé, Montse, Sánchez-Calvín, María Teresa, Gonzalo-Martínez, Juan Francisco, Domínguez-González, Cristina
Published in Brain (London, England : 1878) (01.12.2019)
Published in Brain (London, England : 1878) (01.12.2019)
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Journal Article
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions
de la Hoz, Carlos Pablo de Fuenmayor-Fernández, Hernández-Laín, Aurelio, Olivé, Montse, Fernández-Marmiesse, Ana, Domínguez-González, Cristina
Published in Neuromuscular disorders : NMD (01.11.2016)
Published in Neuromuscular disorders : NMD (01.11.2016)
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Journal Article
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
Muñoz-García, Mariana I, Guerrero-Molina, María Paz, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Bermejo-Guerrero, Laura, Arteche-López, Ana, Hernández-Laín, Aurelio, Martín, Miguel A, Domínguez-González, Cristina
Published in Journal of clinical medicine (06.05.2023)
Published in Journal of clinical medicine (06.05.2023)
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Journal Article
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Serrano-Lorenzo, Pablo, Blázquez-Encinar, Alberto, Gutiérrez-Gutiérrez, Gerardo, Martínez-Vicente, Laura, Galán-Dávila, Lucía, García-García, Jorge, Arenas, Joaquín, Muelas, Nuria, Hernández-Laín, Aurelio, Domínguez-González, Cristina, Martín, Miguel A
Published in Journal of clinical medicine (22.12.2021)
Published in Journal of clinical medicine (22.12.2021)
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Journal Article
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Lupo, Vincenzo, Bermejo-Guerrero, Laura, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Gallardo, Eduard, Esteban-Pérez, Jesús, Espinós, Carmen, Domínguez-González, Cristina
Published in Journal of neurology (01.02.2024)
Published in Journal of neurology (01.02.2024)
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Journal Article
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Bermejo-Guerrero, Laura, de Fuenmayor Fernández-de la Hoz, Carlos Pablo, González-Quereda, Lidia, Segarra-Casas, Alba, Nedkova, Velina, Gallano, Pia, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Arteche-López, Ana, Domínguez-González, Cristina
Published in Neuromuscular disorders : NMD (01.12.2023)
Published in Neuromuscular disorders : NMD (01.12.2023)
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Journal Article
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
Panadés-de Oliveira, Luísa, Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Cantero Montenegro, Diana, Hernández Lain, Aurelio, Martí, Pilar, Muelas, Nuria, Vilchez, Juan J., Domínguez-González, Cristina
Published in Journal of neurology (01.09.2020)
Published in Journal of neurology (01.09.2020)
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Journal Article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation
De Fuenmayor-Fernández De La Hoz, Carlos Pablo, Domínguez-González, Cristina, Gonzalo-Martínez, Juan Francisco, Esteban-Pérez, Jesús, Fernández-Marmiesse, Ana, Arenas, Joaquín, Martín, Miguel A., Hernández-Laín, Aurelio
Published in Muscle & nerve (01.10.2016)
Published in Muscle & nerve (01.10.2016)
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Journal Article
Stars of the quantum Universe: extremal constellations on the Poincaré sphere
Björk, Gunnar, Grassl, Markus, Hoz, Pablo de la, Leuchs, Gerd, Sánchez-Soto, Luis L
Published in Physica scripta (01.10.2015)
Published in Physica scripta (01.10.2015)
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Journal Article
Acute hypokinetic-rigid syndrome following SARS-CoV-2 infection
Méndez-Guerrero, Antonio, Laespada-García, María Isabel, Gómez-Grande, Adolfo, Ruiz-Ortiz, Mariano, Blanco-Palmero, Víctor Antonio, Azcarate-Diaz, Francisco Javier, Rábano-Suárez, Pablo, Álvarez-Torres, Eva, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vega Pérez, Diana, Rodríguez-Montalbán, Raquel, Pérez-Rivilla, Alfredo, Sayas Catalán, Javier, Ramos-González, Ana, González de la Aleja, Jesús
Published in Neurology (13.10.2020)
Published in Neurology (13.10.2020)
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Journal Article
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero-Molina, María Paz, Martín-Jiménez, Paloma, Blázquez, Alberto, Serrano-Lorenzo, Pablo, Lora, David, Morales-Conejo, Montserrat, González-Martínez, Irene, López-Jiménez, Elena Ana, Martín, Miguel A, Domínguez-González, Cristina
Published in Journal of clinical medicine (22.03.2023)
Published in Journal of clinical medicine (22.03.2023)
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Journal Article
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry
García-Azorín, David, Abildúa, María José Abenza, Aguirre, María Elena Erro, Fernández, Santiago Fernández, Moncó, Juan Carlos García, Guijarro-Castro, Cristina, Platas, Montserrat González, Delgado, Fernando Romero, Andrés, José Miguel Láinez, Ezpeleta, David, Fernández, Alejandra Collía, Horga, Alejandro, Prieto, Ana Barragán, del Villar Igea, Ana, Núñez, Ana Urbanos, Serrano, Ángel Aledo, García, Araceli, Menéndez, Beatriz Martínez, Recasens, Bernat Bertran, Serrano, Blanca Serrano, de la Esperanza, Blanca Talavera, de la Hoz, Carlos Pablo de Fuenmayor Fernández, Juste, Carlos Tejero, Martín, Carmen Valderrama, García, Cristina Fernández, Ochoa, Marta, Íñiguez, Cristina, García, Daniel Macías, Pérez Martínez, David A., Santacruz, Débora Mª. Cerdán, Robert, Misericòrdia Floriach, Gomez, Elisabet Franquet, Puiggròs, Elsa, Álvarez, Eric Freire, Llamas, Esteban Peña, Villareal, Estibaliz, Díaz, Eva Fernández, Burguillos, Fernando Morejón, Beitia, Garazi Agirre, Gutiérrez-Gutiérrez, Gerardo, Monteiro, Guilherme Carvalho, Ygual, Guillermo Cervera, Hernández, Guillermo, Rubio, Guillermo, Alonso, Hortenia, Froiz, Iago Payo, García, Iago Rego, Peñas, Inmaculada Redondo, Pérez Sánchez, Javier R., García, Javier Tejada, Álvarez, Javier Villacieros, Domínguez, Jéssica Fernández, Etessam, Jesús Porta, Equiza, Jon, Pascual, Jorge Millán, Usieto, José Antonio Oliván, Reyes, José Antonio, Gómez, José Balseiro, Bueno, José Carlos Roche, Velasquez, Jose Luis Camacho, López, José María Barrios, Raquel Lamas, Leire Ainz, Lezama, Lidia Binela Lara, Caballero, Lorena, Davila, Lucía Galan, González, Nuria, de Antonio, Luis Alberto Rodríguez, Torres, Mª. Araceli García, Zabaleta, Maite Martinez, Rodríguez, Manuel Medina, Moragues, María Dolores, García, María Fuensanta Valero, Hernández, María, Abildúa, María José Abenza, Rabasa, María, Santos, María Rico, Usero, María, Zurdo, Martín, Más, Miguel, Maneiro, Miren, Platas, Montserrat González, Muriana, Nafría, Noelia González, Esteve, Oriol Barrachina, del Saz Saucedo, Pablo, Rocío, Vilar Ventura, Rosa M., Atienza, Saida, Navas, Sandra Rodríguez, Fernández, Santiago Fernández, Borja, Sergio, Navarro, Silvia Gil, García, Solange Kapetanovic, García, Susana, Salas, Teresa Mateos, Palasí, Toni, Cantero, Victoriano Romero
Published in Journal of the neurological sciences (15.04.2021)
Published in Journal of the neurological sciences (15.04.2021)
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Journal Article
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Domínguez-González, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vélez-Gómez, Beatriz, Cabezas, Juan Antonio, Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servian-Morilla, Emilia, Martin, Miguel A., Díaz-Manera, Jordi, Paradas, Carmen
Published in Journal of neurology (01.07.2022)
Published in Journal of neurology (01.07.2022)
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Journal Article
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
Domínguez-González, Cristina, Hernández-Voth, Ana, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero, Laura Bermejo, Morís, Germán, García-García, Jorge, Muelas, Nuria, León Hernández, Juan Carlos, Rabasa, Maria, Lora, David, Blázquez, Alberto, Arenas, Joaquín, Martin, Miguel Ángel
Published in Neuromuscular disorders : NMD (01.09.2022)
Published in Neuromuscular disorders : NMD (01.09.2022)
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Journal Article