Publicaciones
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Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de citas: 8
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Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
ORPHANET JOURNAL OF RARE DISEASES . 13: 97-97. Nº de citas: 15
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Casado-Rio M, Sierra-March C, Batllori-Tragant M, Artuch-Iriberri R and Ormazabal-Herrero A.
A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry
Metabolomics . 14(6): 76-76. Nº de citas: 34
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Vilches C, Boiadjieva-Knopfel E, Bodoy S, Camargo S, Lopez de Heredia M, Prat-Reixach E, Ormazabal-Herrero A, Artuch-Iriberri R, Zorzano A, Verrey F, Nunes V and Palacin M.
Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY . 29(6): 1624-1635. Nº de citas: 22
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Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency: an update
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 18(6): 491-498. Nº de citas: 23
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González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra-March C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch-Iriberri R, Ezquerra M, Fernández-Santiago R and Garrabou G.
Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations
NEUROBIOLOGY OF AGING . 65: 206-216. Nº de citas: 16
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Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.
X-linked adrenoleukodystrophy with an atypical radiological pattern
REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de citas: 4
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Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC and Finkel RS.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
NEW ENGLAND JOURNAL OF MEDICINE . 378(7): 625-635. Nº de citas: 959
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Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch-Iriberri R, López-Gallardo E, Bayona-Bafaluy MP, Montoya C and Ruiz-Pesini E.
The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient
FRONTIERS IN NEUROSCIENCE . 12: 61-61. Nº de citas: 19
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Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Nº de citas: 37