Publicaciones
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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: 34
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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 citas: 37
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Casas-Alba D, Fernández de Sevilla-Estrach M, Valero-Rello A, Fortuny-Guasch C, García-García JJ, Ortez-Gonzalez CI, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Luaces-Cubells C, Barrabeig I, González-Sanz R, Cabrerizo M, Munoz-Almagro C and Launes-Montana C.
Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia
CLINICAL MICROBIOLOGY AND INFECTION . 23(11): 874-881. Nº de citas: 49
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de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de citas: 14
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Puerta-Roldan P, Guillen-Quesada A, Carrasco-Torrents R, Muchart-Lopez J, Serrano M and Ferrer Vidal-Barraquer E.
Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge
REVISTA DE NEUROLOGIA . 65(3): 112-116. Nº de citas: 2
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Puerta P, Guillén A, Muchart-Lopez J, González V and Ferrer E.
Cerebral Proliferative Angiopathy in a Child.
PEDIATRIC NEUROSURGERY . 52(3): 214-216. Nº de citas: 7
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Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.
Ndufs4 related Leigh syndrome: A case report and review of the literature
Mitochondrion . 28: 73-78. Nº de citas: 40
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François C, Ripollés P, Bosch-Galceran L, García-Alix A, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Gaitán H and Rodriguez-Fornells A.
Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity
Cortex . 77: 95-118. Nº de citas: 21
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Bosch de Basea M, Salotti JA, Pearce MS, Muchart-Lopez J, Riera L, Barber I, Pedraza S, Pardina M, Capdevila A, Espinosa A and Cardis E.
Trends and patterns in the use of computed tomography in children and young adults in Catalonia - results from the EPI-CT study
PEDIATRIC RADIOLOGY . 46(1): 119-129. Nº de citas: 33
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Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Nº de citas: 42