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Publicacions

  • García-Villoria J, Navarro-Sastre A, Fons-Estupina C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MT, González I, Hernández-Gonzalez A, Fernández C, Campistol-Plana J, Delpiccolo C, Cortés N, Messeguer A, Briones P and Ribes A.

    Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis (vol 42, pg 27, 2009)

    CLINICAL BIOCHEMISTRY . 49(1-2): 197-197.

    [doi:10.1016/j.clinbiochem.2015.11.012]

  • Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

    ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Nº de cites: 17

    [doi:10.1186/s13023-015-0376-9]

  • 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 cites: 42

    [doi:10.1186/s13023-015-0358-y]

  • Jaffer F, Avbersek A, Vavassori R, Fons-Estupina C, Campistol-Plana J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP and Sisodiya SM.

    Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

    BRAIN . 138: 2859-2874. Nº de cites: 28

    [doi:10.1093/brain/awv243]

  • Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons-Estupina C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramírez-Camacho A, Ulate-Campos A, Campistol-Plana J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A, Italian IBAHC Consortium, French AHC Consortium and International AHC Consortium.

    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

    ORPHANET JOURNAL OF RARE DISEASES . 10: 123-123. Nº de cites: 110

    [doi:10.1186/s13023-015-0335-5]

  • Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.

    Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature

    CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Nº de cites: 1

    [doi:10.1097/MCD.0000000000000064]

  • Natera-De Benito D, Poo P, Gean Molins E, Vicente-Villa MA, Garcia-Cazorla A and Fons-Estupina C.

    Diploid/triploid mosaicism: a variable but characteristic phenotype

    REVISTA DE NEUROLOGIA . 59(4): 158-163.

    [doi:10.33588/rn.5904.2014077]

  • Roda D, Fons-Estupina C and Vidal-Santacana M.

    Familial idiopathic intracranial hypertension: Regarding two paediatric cases

    REVISTA DE NEUROLOGIA . 59(2): 93-96. Nº de cites: 2

    [doi:10.33588/rn.5902.2014059]

  • Roda D, Fons-Estupina C and Vidal-Santacana M.

    Hipertension intracraneal idiopatica familiar: a proposito de dos casos pediatricos.

    REVISTA DE NEUROLOGIA . 59(2): 93-96. Nº de cites: 2

    [doi:10.33588/rn.5902.2014059]

  • Ulate-Campos A, Fons-Estupina C, Campistol-Plana J, Martorell-Sampol L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A and Velázquez R.

    Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients

    MEDICINA CLINICA . 143(1): 25-28. Nº de cites: 3

    [doi:10.1016/j.medcli.2014.01.036]