Publications
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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: 100
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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: 39
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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
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Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.
Hypotonia in the neonatal period: 12 years' experience
REVISTA DE NEUROLOGIA . 56(2): 72-78. Number of citations: 5
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Campistol-Plana J.
Guidelines for detection of inborn errors of metabolism based on clinical exam, analytical studies and neuroimaging techniques
MEDICINA-BUENOS AIRES . 73: 55-62. Number of citations: 1
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Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento-Osorio A, Colomer J, Campistol-Plana J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P and Ribes A.
Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients
MOLECULAR GENETICS AND METABOLISM . 107(3): 409-415. Number of citations: 37
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Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptácek LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA and Goldstein DB.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
NATURE GENETICS . 44(9): 1030-1030. Number of citations: 310
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Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.
Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients
REVISTA DE NEUROLOGIA . 55(4): 200-206. Number of citations: 3
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Pérez-Dueñas B, Sempere A, Campistol-Plana J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR and Artuch-Iriberri R.
Novel features in the evolution of adenylosuccinate lyase deficiency
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(4): 343-348. Number of citations: 15