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Search Results - Martí-Sánchez, Laura
Search Results - Martí-Sánchez, Laura
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Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
by
Marcé‐Grau, Anna
,
Martí‐Sánchez, Laura
,
Baide‐Mairena, Heidy
,
Ortigoza‐Escobar, Juan D.
,
Pérez‐Dueñas, Belén
Published in
Journal of inherited metabolic disease
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Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features
by
Nou‐Fontanet, Laia
,
Martí‐Sánchez, Laura
,
Martorell, Loreto
,
Casas, Jesús
,
Ortigoza‐Escobar, Juan Darío
Published in
Movement disorders clinical practice (Hoboken, N.J.)
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Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
by
Pata, Silvia
,
Flores-Rojas, Katherine
,
Gil, Angel
,
López-Laso, Eduardo
,
Marti-Sánchez, Laura
,
Baide-Mairena, Heydi
,
Pérez-Dueéas, Belén
,
Gil-Campos, Mercedes
Published in
Orphanet journal of rare diseases
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Genetic diagnosis of basal ganglia disease in childhood
by
Baide‐Mairena, Heidy
,
Marti‐Sánchez, Laura
,
Marcé‐Grau, Anna
,
Cazurro‐Gutiérrez, Ana
,
Sanchez‐Montanez, Angel
,
Delgado, Ignacio
,
Moreno‐Galdó, Antonio
,
Macaya‐Ruiz, Alfons
,
García‐Arumí, Elena
,
Pérez‐Dueñas, Belén
Published in
Developmental medicine and child neurology
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Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
by
Baide-Mairena, Heidy
,
Gaudó, Paula
,
Marti-Sánchez, Laura
,
Emperador, Sonia
,
Sánchez-Montanez, Angel
,
Alonso-Luengo, Olga
,
Correa, Marta
,
Grau, Anna Marcè
,
Ortigoza-Escobar, Juan Darío
,
Artuch, Rafael
,
Vázquez, Elida
,
Del Toro, Mireia
,
Garrido-Pérez, Nuria
,
Ruiz-Pesini, Eduardo
,
Montoya, Julio
,
Bayona-Bafaluy, María Pilar
,
Pérez-Dueñas, Belén
Published in
Molecular genetics and metabolism
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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
by
Ortigoza‐Escobar, Juan Darío
,
Alfadhel, Majid
,
Molero‐Luis, Marta
,
Darin, Niklas
,
Spiegel, Ronen
,
de Coo, Irenaeus F.
,
Gerards, Mike
,
Taylor, Robert W.
,
Artuch, Rafael
,
Nashabat, Marwan
,
Rodríguez‐Pombo, Pilar
,
Tabarki, Brahim
,
Pérez‐Dueñas, Belén
,
Distelmaier, Felix
,
Hahn, Andreas
,
Morava, Eva
,
Banka, Siddharth
,
Debs, Rabab
,
Fraser, Jamie L.
,
Isohanni, Pirjo
,
Lähdesmäki, Tuire
,
Livingston, John
,
Nadjar, Yann
,
Schuler, Elisabeth
,
Uusimaa, Johanna
,
Vanderver, Adeline
,
Friedman, Jennifer R.
,
Zimbric, Michael R.
,
McFarland, Robert
,
Santra, Saikat
,
Wassmer, Evangeline
,
Martí‐Sanchez, Laura
,
Darling, Alejandra
Published in
Annals of neurology
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Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
by
Vanegas, Maria I.
,
Marcé-Grau, Anna
,
Martí-Sánchez, Laura
,
Mellid, Sara
,
Baide-Mairena, Heidy
,
Correa-Vela, Marta
,
Cazurro, Anna
,
Rodríguez, Carla
,
Toledo, Laura
,
Fernández-Ramos, Joaquín Alejandro
,
Pons, Roser
,
Aguilera-Albesa, Sergio
,
Martí, Maria José
,
Eiris, Jesús
,
Iglesias, Gema
,
De Fabregues, Oriol
,
Maqueda, Elena
,
Garriz-Luis, Maite
,
Madruga, Marcos
,
Espinós, Carmen
,
Macaya, Alfons
,
Cabrera, José Carlos
,
Pérez-Dueñas, Belén
Published in
Parkinsonism & related disorders
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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
by
Darling, Alejandra
,
Tello, Cristina
,
Martí, María Josep
,
Garrido, Cristina
,
Aguilera‐Albesa, Sergio
,
Tomás Vila, Miguel
,
Gastón, Itziar
,
Madruga, Marcos
,
González Gutiérrez, Luis
,
Ramos Lizana, Julio
,
Pujol, Montserrat
,
Gavilán Iglesias, Tania
,
Tustin, Kylee
,
Lin, Jean Pierre
,
Zorzi, Giovanna
,
Nardocci, Nardo
,
Martorell, Loreto
,
Lorenzo Sanz, Gustavo
,
Gutiérrez, Fuencisla
,
García, Pedro J.
,
Vela, Lidia
,
Hernández Lahoz, Carlos
,
Ortigoza Escobar, Juan Darío
,
Martí Sánchez, Laura
,
Moreira, Fradique
,
Coelho, Miguel
,
Correia Guedes, Leonor
,
Castro Caldas, Ana
,
Ferreira, Joaquim
,
Pires, Paula
,
Costa, Cristina
,
Rego, Paulo
,
Magalhães, Marina
,
Stamelou, María
,
Cuadras Pallejà, Daniel
,
Rodríguez‐Blazquez, Carmen
,
Martínez‐Martín, Pablo
,
Lupo, Vincenzo
,
Stefanis, Leonidas
,
Pons, Roser
,
Espinós, Carmen
,
Temudo, Teresa
,
Pérez Dueñas, Belén
Published in
Movement disorders
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Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins
by
Batllori, Marta
,
Casado, Mercedes
,
Sierra, Cristina
,
Salgado, Maria Del Carmen
,
Marti-Sanchez, Laura
,
Maynou, Joan
,
Fernandez, Guerau
,
Garcia-Cazorla, Angels
,
Ormazabal, Aida
,
Molero-Luis, Marta
,
Artuch, Rafael
Published in
Fluids and barriers of the CNS
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Targeted next generation sequencing in patients with infantile bilateral striatal necrosis
by
Ortigoza-Escobar, Juan Dario
,
Marti-Sanchez, Laura
,
Molero-Luis, Marta
,
Aviles, Carles
,
Baide, Heidy
,
Muchart, Jordi
,
Rebollo, Monica
,
Crow, Yannick J
,
Cabrera-Lopez, J.C
,
Madruga-Garrido, Marcos
,
Alonso-Luengo, Olga
,
Quijada-Fraile, Pilar
,
Martin-Hernandez, Elena
,
Garcia-Silva, Maria Teresa
,
Cerisola, Alfredo
,
Velazquez-Fragua, Ramon
,
Schuler, Elisabeth
,
Lopez-Laso, Eduardo
,
Gutierrez Solana, L.G
Published in
European journal of paediatric neurology
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Area strain from 3D speckle-tracking echocardiography as an independent predictor of early symptoms or ventricular dysfunction in asymptomatic severe mitral regurgitation with pres...
by
Casas-Rojo, Eduardo
,
Fernandez-Golfin, Covadonga
,
Moya-Mur, Jose Luis
,
Gonzalez-Gomez, Ariana
,
Garcia-Martin, Ana
,
Moran-Fernandez, Laura
,
Rodriguez-Munoz, Daniel
,
Jimenez-Nacher, Jose Julio
,
Marti Sanchez, David
,
Zamorano Gomez, Jose Luis
Published in
International Journal of Cardiovascular Imaging
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Mock Juror Perceptions of Child Witnesses on the Autism Spectrum: The Impact of Providing Diagnostic Labels and Information About Autism
by
Crane, Laura
,
Wilcock, Rachel
,
Maras, Katie L.
,
Chui, Wing
,
Marti-Sanchez, Carmen
,
Henry, Lucy A.
Published in
Journal of autism and developmental disorders
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