Publications
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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: 302
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Fons-Estupina C, Rizzu P, Garcia-Cazorla A, Martorell-Sampol L, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Fernández-Alvarez E.
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment
BRAIN & DEVELOPMENT . 34(3): 255-257. Number of citations: 17
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Roche-Martinez A, Armstrong-Moron J, Gerotina E, Fons-Estupina C, Campistol-Plana J and Pineda M.
CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain
Journal of Pediatric Epilepsy . 1(1): 27-35.
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Fons-Estupina C, Campistol-Plana J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch-Iriberri R, Schyns T, Vavassori R and Poncelin D.
Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(1): 10-14. Number of citations: 18
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Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.
Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients
JIMD Reports . 4: 13-16. Number of citations: 4
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Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.
Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency
JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Number of citations: 6
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Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol-Plana J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons-Estupina C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D and Arzimanoglou A.
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults
BRAIN . 133(12): 3598-3610. Number of citations: 116
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García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency
EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Number of citations: 9
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De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Number of citations: 31
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Fons-Estupina C, Arias A, Sempere A, Poo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch-Iriberri R, Campistol-Plana J and Ribes A.
Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
MOLECULAR GENETICS AND METABOLISM . 99(3): 296-299. Number of citations: 21