Publicacions
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Nou-Fontanet L, Marti-Sanchez L, Martorell-Sampol L, Casas J and Ortigoza-Escobar JD.
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Movement Disorders Clinical Practice . 11(7): 889-893.
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Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sanchez L, Baide-Mairena H, Pérez-Dueñas B and Gil-Campos M.
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
ORPHANET JOURNAL OF RARE DISEASES . 17(1): 340-340. Nº de cites: 1
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Baide-Mairena H, Marti-Sanchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E and Pérez-Dueñas B.
Genetic diagnosis of basal ganglia disease in childhood
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(6): 743-752.
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Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Marti-Sanchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch-Iriberri R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R and Lucas JJ.
CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease
SCIENCE TRANSLATIONAL MEDICINE . 13(613): . Nº de cites: 12
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Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Macaya A and Pérez-Dueñas B.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de cites: 31
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Vanegas MI, Marcé-Grau A, Marti-Sanchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC and Pérez-Dueñas B.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
PARKINSONISM & RELATED DISORDERS . 80: 165-174. Nº de cites: 6
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Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.
Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins
Fluids and Barriers of the CNS . 16(1): 34-34. Nº de cites: 9
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Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD and Pérez-Dueñas B.
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 581-597. Nº de cites: 73
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Baide-Mairena H, Gaudó P, Marti-Sanchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch-Iriberri R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya C, Bayona-Bafaluy MP and Pérez-Dueñas B.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Nº de cites: 16
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Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system
ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Nº de cites: 39