Publications
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Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B and Espinós C.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Annals of Clinical and Translational Neurology . 7(8): 1436-1442. Number of citations: 17
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Mantegazza R, O'Brien FL, Yountz M, Howard JF Jr and REGAIN study group.
Consistent improvement with eculizumab across muscle groups in myasthenia gravis
Annals of Clinical and Translational Neurology . 7(8): 1327-1339. Number of citations: 11
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Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.
Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases
Neurochirurgie . 66(4): 266-269.
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Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD).
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
SCIENTIFIC REPORTS . 10(1): 11948-11948. Number of citations: 13
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De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan-Gordo M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ and Mancuso M.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 800-818. Number of citations: 23
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Klinke G, Richter S, Monostori P, Schmidt-Mader B, Garcia-Cazorla A, Artuch-Iriberri R, Christ S, Opladen T, Hoffmann GF, Blau N and Okun JG.
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform
JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 712-725. Number of citations: 8
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Candela-Cantó SA, Alamar M, Aláez C, Muchart-Lopez J, Forero C, de la Gala C, Munuera-del Cerro JL, Serrano S, Quintillá-Martínez JM and Hinojosa J.
Highly realistic simulation for robot-assisted hypothalamic hamartoma real-time MRI-guided laser interstitial thermal therapy (LITT)
CHILDS NERVOUS SYSTEM . 36(6): 1131-1142. Number of citations: 7
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Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O and International Working Group on Neurotransmitter related Disorders (iNTD).
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 126-126. Number of citations: 77
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Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, Posset R and Urea Cycle Disorders Consortium (UCDC) and the European registry and network for.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
HUMAN MUTATION . 41(5): 946-960. Number of citations: 14
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Ng J, Cortés-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, Garcia-Cazorla A, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E and Kurian MA.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia
MOVEMENT DISORDERS . 35(8): 1357-1368. Number of citations: 16