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Items: 46

1.

[Epilepsy in children with congenital hemiparesis secondary to perinatal ictus].

Revilla Orías MD, Alonso X, Campistol J, Macaya A, Escofet C, Fons C.

Medicina (B Aires). 2019;79 Suppl 3:6-9. Spanish.

2.

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Verdura E, Fons C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A, Pujol A.

J Med Genet. 2019 Oct 5. pii: jmedgenet-2019-106373. doi: 10.1136/jmedgenet-2019-106373. [Epub ahead of print]

3.

Right Structural and Functional Reorganization in Four-Year-Old Children with Perinatal Arterial Ischemic Stroke Predict Language Production.

François C, Ripollés P, Ferreri L, Muchart J, Sierpowska J, Fons C, Solé J, Rebollo M, Zatorre RJ, Garcia-Alix A, Bosch L, Rodriguez-Fornells A.

eNeuro. 2019 Aug 28;6(4). pii: ENEURO.0447-18.2019. doi: 10.1523/ENEURO.0447-18.2019. Print 2019 Jul/Aug.

4.

Broadening the spectrum of neonatal hemochromatosis.

Casas-Alba D, Clotet J, Inarejos EJ, Jou C, Fons C, Molera C.

J Matern Fetal Neonatal Med. 2018 Sep 10:1-3. doi: 10.1080/14767058.2018.1506442. [Epub ahead of print]

PMID:
30058407
5.

Early-life exposure to low-dose oxidants can increase longevity via microbiome remodelling in Drosophila.

Obata F, Fons CO, Gould AP.

Nat Commun. 2018 Mar 7;9(1):975. doi: 10.1038/s41467-018-03070-w.

6.

[A strange visitor…].

Schneider C, Fons C, Ferveur MO, Basset D.

Presse Med. 2017 May;46(5):553-555. doi: 10.1016/j.lpm.2017.03.014. Epub 2017 May 5. French. No abstract available.

PMID:
28483288
7.

Creatine Defects and Central Nervous System.

Fons C, Campistol J.

Semin Pediatr Neurol. 2016 Nov;23(4):285-289. doi: 10.1016/j.spen.2016.11.003. Epub 2016 Nov 17. Review.

PMID:
28284390
8.

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Ponce EC, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2016 Nov 3;11(1):147. No abstract available.

9.

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG.

J Hum Genet. 2017 Feb;62(2):185-189. doi: 10.1038/jhg.2016.104. Epub 2016 Aug 18.

PMID:
27535030
10.

Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity.

François C, Ripollés P, Bosch L, Garcia-Alix A, Muchart J, Sierpowska J, Fons C, Solé J, Rebollo M, Gaitán H, Rodriguez-Fornells A.

Cortex. 2016 Apr;77:95-118. doi: 10.1016/j.cortex.2016.01.010. Epub 2016 Feb 4.

PMID:
26922507
11.

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

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Review. Erratum in: Orphanet J Rare Dis. 2016 Nov 3;11(1):147.

12.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y.

13.

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

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol 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; International AHC Consortium.

Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.

14.

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

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol 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, Sisodiya SM.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

15.

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

Natera-de Benito D, Fons C, Ulate-Campos A, Martorell L, Póo P.

Clin Dysmorphol. 2015 Jan;24(1):38-43. doi: 10.1097/MCD.0000000000000064. Review. No abstract available.

PMID:
25380321
16.

Agenesis of the corpus callosum in a newborn with turner mosaicism.

Pereira E, Polo MR, López JM, Quijano TA, García-Alix A, Fons C.

Pediatr Rep. 2014 May 6;6(2):5112. doi: 10.4081/pr.2014.5112. eCollection 2014 May 6.

17.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

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

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Spanish.

PMID:
24768197
18.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J.

Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

19.

Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.

Villar C, Campistol J, Fons C, Armstrong J, Mas A, Ormazabal A, Artuch R.

JIMD Rep. 2012;4:13-6. doi: 10.1007/8904_2011_41. Epub 2011 Nov 4.

20.

[The Drosophila midgut as a model to study adult stem cells].

Andriatsilavo M, Gervais L, Fons C, Bardin AJ.

Med Sci (Paris). 2013 Jan;29(1):75-81. doi: 10.1051/medsci/2013291016. Epub 2013 Jan 25. Review. French.

21.

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

Fons C, Campistol 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 R, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium.

Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25.

PMID:
21945173
22.

Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency.

Ortez C, Villar C, Fons C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazábal A, Casado M, Campistol J, Vilaseca MA, García-Cazorla A.

J Alzheimers Dis. 2011;27(2):253-7. doi: 10.3233/JAD-2011-110647.

PMID:
21841256
23.

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Fons C, Rizzu P, Garcia-Cazorla A, Martorell L, Ormazabal A, Artuch R, Campistol J, Fernandez-Alvarez E.

Brain Dev. 2012 Mar;34(3):255-7. doi: 10.1016/j.braindev.2011.04.007. Epub 2011 May 8.

PMID:
21555194
24.

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.

Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium, Arzimanoglou A.

Brain. 2010 Dec;133(Pt 12):3598-610. doi: 10.1093/brain/awq295. Epub 2010 Oct 24.

PMID:
20974617
25.

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

De Grandis E, Serrano M, Pérez-Dueñas B, Ormazábal A, Montero R, Veneselli E, Pineda M, González V, Sanmartí F, Fons C, Sans A, Cormand B, Puelles L, Alonso A, Campistol J, Artuch R, García-Cazorla A.

J Inherit Metab Dis. 2010 Dec;33(6):803-9. doi: 10.1007/s10545-010-9200-9. Epub 2010 Sep 18.

PMID:
20852934
26.

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A.

Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28.

27.

Hook-up Sexual Experiences and Problem Behaviors Among Adolescents.

Fortunato L, Young AM, Boyd CJ, Fons CE.

J Child Adolesc Subst Abuse. 2010 Jan 1;19(3):261-278.

28.

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A.

Mol Genet Metab. 2010 Mar;99(3):296-9. doi: 10.1016/j.ymgme.2009.10.186. Epub 2009 Nov 1.

PMID:
19955008
29.

[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol J, Artuch R.

Med Clin (Barc). 2009 Nov 21;133(19):745-9. doi: 10.1016/j.medcli.2009.06.065. Epub 2009 Nov 5. Spanish.

PMID:
19892372
30.

Epilepsy spectrum in cerebral creatine transporter deficiency.

Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J.

Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x. No abstract available.

31.

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, García-Cazorla A, Artuch R, Jara F, Arranz JA, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca MA.

J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14.

PMID:
19684305
32.

Creatine transporter deficiency in two adult patients with static encephalopathy.

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. Review.

PMID:
19319661
33.

Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome.

Fons C, Vasconcelos M, Vidal M, Puy R, Capdevila A, Sanchez L, Campistol J.

J Child Neurol. 2009 Jan;24(1):101-4. doi: 10.1177/0883073808321049. Review.

PMID:
19168824
34.

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

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

Clin Biochem. 2009 Jan;42(1-2):27-33. doi: 10.1016/j.clinbiochem.2008.10.006. Epub 2008 Oct 25. Erratum in: Clin Biochem. 2016 Jan;49(1-2):197.

PMID:
18996107
35.

Arginine supplementation in four patients with X-linked creatine transporter defect.

Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J.

J Inherit Metab Dis. 2008 Dec;31(6):724-8. doi: 10.1007/s10545-008-0902-1. Epub 2008 Oct 16.

PMID:
18925426
36.

Craniectomy in herpetic encephalitis.

González Rabelino GA, Fons C, Rey A, Roussos I, Campistol J.

Pediatr Neurol. 2008 Sep;39(3):201-3. doi: 10.1016/j.pediatrneurol.2008.06.006.

PMID:
18725067
37.

[Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients].

Fons C, Campistol J, Narbona J, Velázquez R, Eiris J, García Peñas JJ.

Med Clin (Barc). 2008 Apr 26;130(15):577-9. Spanish.

PMID:
18462636
38.

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R.

Clin Biochem. 2007 Nov;40(16-17):1328-31. Epub 2007 Aug 10.

PMID:
17825809
39.

Efficacy and tolerability of topiramate in children younger than 2 years old.

Valencia I, Fons C, Kothare SV, Khurana DS, Yum S, Hardison HH, Legido A.

J Child Neurol. 2005 Aug;20(8):667-9.

PMID:
16225812
40.

Effects of zamic as a means for zinc supplementation in growing children.

Fons C, Brun JF, Fedou C, Fussellier M, Bardet L, Orsetti A.

Biol Trace Elem Res. 1995 Apr;48(1):31-6.

PMID:
7626370
41.

Effects of oral zinc gluconate on glucose effectiveness and insulin sensitivity in humans.

Brun JF, Guintrand-Hugret R, Fons C, Carvajal J, Fedou C, Fussellier M, Bardet L, Orsetti A.

Biol Trace Elem Res. 1995 Jan-Mar;47(1-3):385-91.

PMID:
7779574
42.

Serum zinc in highly trained adolescent gymnasts.

Brun JF, Dieu-Cambrezy C, Charpiat A, Fons C, Fedou C, Micallef JP, Fussellier M, Bardet L, Orsetti A.

Biol Trace Elem Res. 1995 Jan-Mar;47(1-3):273-8.

PMID:
7779557
43.

Serum zinc and somatic growth in children with growth retardation.

Fons C, Brun JF, Fussellier M, Cassanas G, Bardet L, Orsetti A.

Biol Trace Elem Res. 1992 Jan-Mar;32:399-404.

PMID:
1375081
44.

Urinary zinc and its relationships with microalbuminuria in type I diabetics.

Brun JF, Fons C, Fussellier M, Bardet L, Orsetti A.

Biol Trace Elem Res. 1992 Jan-Mar;32:317-23.

PMID:
1375072
45.

[Hemorrheological characteristics of fetal blood drawn in utero from the cord].

Boulot P, Brun JF, Fons C, el Bouhmadi A, Hédon MN, Viala JL, Orsetti A.

Rev Fr Gynecol Obstet. 1991 Feb 25;86(2 Pt 2):154-7. French.

PMID:
1767166
46.

[Hemorrheological parameters during normal labor and uterine contraction].

Brun JF, Boulot P, Fons C, Hedon MN, Viala JL, Orsetti A.

Rev Fr Gynecol Obstet. 1991 Feb 25;86(2 Pt 2):148-53. French.

PMID:
1767165

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