Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) von González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L, Martí, Ramon

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Editorial: NGS technologies of rare diseases diagnosis von Couce, María L., González-Vioque, Emiliano

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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects von Martinez‐Delgado, Beatriz, Lopez‐Martin, Estrella, Lara‐Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez‐Martin, Carlos, Damian, Alejandra, Gonzalo, Irene, Gomez‐Mariano, Gema, Baladron, Beatriz, Cazorla, Rosario, Iglesias, Gema, Roman, Enriqueta, Ros, Purificacion, Tutor, Pablo, Mellor, Susana, Jimenez, Carlos, Cabrejas, Maria Jose, Gonzalez‐Vioque, Emiliano, Alonso, Javier, Bermejo‐Sánchez, Eva, Posada, Manuel

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Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease von de Castro, María José, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Salguero, Enrique, Rite, Segundo, López-Suárez, Olalla, Pérez-Muñuzuri, Alejandro, Couce, María-Luz

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Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy von Maestro‐Benedicto, Alba, Vela, Paula, Frutos, Fernando, Mora, Nerea, Pomares, Antonia, Gonzalez‐Vioque, Emiliano, Briceño, Ana, Cabrera, Eva, Cobo‐Marcos, Marta, Dominguez, Fernando, Gonzalez‐Lopez, Esther, Segovia, Javier, Lara‐Pezzi, Enrique, Garcia‐Pavia, Pablo

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Dietary Interventions for Autism Spectrum Disorder: A Meta-analysis von Fraguas, David, Díaz-Caneja, Covadonga M, Pina-Camacho, Laura, Moreno, Carmen, Durán-Cutilla, Manuel, Ayora, Miriam, González-Vioque, Emiliano, de Matteis, Mario, Hendren, Robert L, Arango, Celso, Parellada, Mara

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Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome von Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Caballero, Andrea, Hirano, Michio, Martí, Ramon

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The pathogenicity scoring system for mitochondrial tRNA mutations revisited von González‐Vioque, Emiliano, Bornstein, Belén, Gallardo, María Esther, Fernández‐Moreno, Miguel Ángel, Garesse, Rafael

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Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder von Couce, María L, Sánchez-Pintos, Paula, González-Vioque, Emiliano, Leis, Rosaura

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The search for an autoimmune origin of psychotic disorders: Prevalence of autoantibodies against hippocampus antigens, glutamic acid decarboxylase and nuclear antigens von Hoffmann, Carolin, Zong, Shenghua, Mané-Damas, Marina, Stevens, Jo, Malyavantham, Kishore, Küçükali, Cem İsmail, Tüzün, Erdem, De Hert, Marc, van Beveren, Nico J.M., González-Vioque, Emiliano, Arango, Celso, Damoiseaux, Jan G.M.C., Rutten, Bart P., Molenaar, Peter C., Losen, Mario, Martinez-Martinez, Pilar

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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome von Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria E, Gonzalez-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Valverde, Laura L, Armstrong-Moron, Judith, Fons-Estupiña, Maria Del Carmen, Wintjes, Liesbeth T, Kappen, Antonia, Rodenburg, Richard J, Couce, Maria L

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Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis von Vázquez-Mosquera, María E, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Bellido-Guerrero, Diego, Tejera-Pérez, Cristina, Martinez-Olmos, Miguel A, Fernández-Pombo, Antía, Castaño-González, Luis A, Chans-Gerpe, Roi, Couce, María L

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Alpha7 acetylcholine receptor autoantibodies are rare in sera of patients diagnosed with schizophrenia or bipolar disorder von Hoffmann, Carolin, Stevens, Jo, Zong, Shenghua, van Kruining, Daan, Saxena, Abhishek, Küçükali, Cem İsmail, Tüzün, Erdem, Yalçınkaya, Nazlı, De Hert, Marc, González-Vioque, Emiliano, Arango, Celso, Lindstrom, Jon, De Baets, Marc H, Rutten, Bart P F, van Os, Jim, Molenaar, Peter, Losen, Mario, Martinez-Martinez, Pilar

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Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA von Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Martí, Ramon

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Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center von Barbosa-Gouveia, Sofia, Vázquez-Mosquera, María E, González-Vioque, Emiliano, Álvarez, José V, Chans, Roi, Laranjeira, Francisco, Martins, Esmeralda, Ferreira, Ana Cristina, Avila-Alvarez, Alejandro, Couce, María L

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Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit von Molina-Granada, David, González-Vioque, Emiliano, Dibley, Marris G., Cabrera-Pérez, Raquel, Vallbona-Garcia, Antoni, Torres-Torronteras, Javier, Sazanov, Leonid A., Ryan, Michael T., Cámara, Yolanda, Martí, Ramon

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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL von Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz

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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies von Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz

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Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency von Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Borges, Filipa, Gutiérrez-Solana, Luis, Wintjes, Liesbeth, Kappen, Antonia, van den Heuvel, Lambert, Leis, Rosaura, Rodenburg, Richard, Couce, María Luz

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Mitochondrial Transcription Factor B2 Is Essential for Metabolic Function in Drosophila melanogaster Development von Adán, Cristina, Matsushima, Yuichi, Hernández-Sierra, Rosana, Marco-Ferreres, Raquel, Fernández-Moreno, Miguel Ángel, González-Vioque, Emiliano, Calleja, Manuel, Aragón, Juan J., Kaguni, Laurie S., Garesse, Rafael

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