Publicacions
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Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento-Osorio A, Conill J and Kalaydjieva L.
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
NEUROMUSCULAR DISORDERS . 16(7): 449-453. Nº de cites: 47
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Colomer J, Müller JS, Vernet A, Nascimento-Osorio A, Pons-Odena M, Gonzalez V, Abicht A and Lochmüller H.
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine
NEUROMUSCULAR DISORDERS . 16(5): 329-333. Nº de cites: 32
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Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
ANNALS OF NEUROLOGY . 59(2): 394-398. Nº de cites: 92
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Nascimento-Osorio A, Navarro, R, Colomer J, Gómez, F and Sola-Martinez T.
Síndrome de Moyamoya asociado al síndrome de Down. Hallazgos clínicos y radiológicos
SD, Revista Medica Internacional sobre el Sindrome de Down . 10(3): 41-45.
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Montero-Sanchez R, Artuch-Iriberri R, Briones P, Nascimento-Osorio A, Garcia-Cazorla A, Vilaseca MA, Sánchez-Alcázar JA, Navas P, Montoya J and Pineda M.
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders
Biofactors . 25(1-4): 109-115. Nº de cites: 39
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
CLINICAL CHEMISTRY . : .