Publications
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Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B and ATP1A3 Working Group.
Distinct neurological disorders with ATP1A3 mutations
LANCET NEUROLOGY . 13(5): 503-514. Number of citations: 181
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Ulate-Campos A, Fons-Estupina C, Artuch-Iriberri R, Castejón E, Martorell-Sampol L, Ozelius L, Pascual J and Campistol-Plana J.
Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet
PEDIATRIC NEUROLOGY . 50(4): 377-379. Number of citations: 28
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Caurín B, Serrano M, Fernández-Alvarez E, Campistol-Plana J and Pérez-Dueñas B.
Environmental circumstances influencing tic expression in children
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 18(2): 157-162. Number of citations: 22
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Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol-Plana J, Martorell-Sampol L, Ruiz-Falcó M, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J and Molano J.
PLP1 gene analysis in 88 patients with leukodystrophy
CLINICAL GENETICS . 84(6): 566-571. Number of citations: 9
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Huijbregts SC, Gassió-Subirachs R and Campistol-Plana J.
Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria
MOLECULAR GENETICS AND METABOLISM . 110(S): 25-30. Number of citations: 22
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Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, Del Toro M, Garcia-Cazorla A, Campistol-Plana J, Briones P, Ribes A and Tort F.
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
JOURNAL OF INHERITED METABOLIC DISEASE . 36(5): 841-847. Number of citations: 35
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van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol-Plana J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM and Salomons GS.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
JOURNAL OF MEDICAL GENETICS . 50(7): 463-472. Number of citations: 88
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Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Number of citations: 37
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Donaire A, Capdevila A, Carreño M, Setoain X, Rumià J, Aparicio J, Campistol-Plana J, Padilla N, Sanmartí F, Vernet O, Pintor L, Boget T, Ortells J and Bargalló N.
Identifying the cortical substrates of interictal epileptiform activity in patients with extratemporal epilepsy: An EEG-fMRI sequential analysis and FDG-PET study
Epilepsia . 54(4): 678-690. Number of citations: 16
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Darling A, Poo P, Pérez-Dueñas B and Campistol-Plana J.
Medication-related oculogyric crises: a description of four cases and a review of the literature
REVISTA DE NEUROLOGIA . 56(3): 152-156. Number of citations: 1