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Items: 1 to 50 of 59

1.

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M.

Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15.

PMID:
31729156
2.

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.

3.

Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis.

Casas-Alba D, Valero-Rello A, Muchart J, Armangué T, Jordan I, Cabrerizo M, Molero-Luís M, Artuch R, Fortuny C, Muñoz-Almagro C, Launes C.

Pediatr Neurol. 2019 Jul;96:70-73. doi: 10.1016/j.pediatrneurol.2019.01.024. Epub 2019 Feb 7.

PMID:
30935719
4.

Vanishing diffuse leptomeningeal contrast enhancement in an infant with choroid plexus papilloma.

Puerta Roldán P, Santa-María López V, Morales La Madrid A, Cruz O, Muchart J, Thomas C, Guillén Quesada A.

Acta Neurochir (Wien). 2019 Feb;161(2):351-354. doi: 10.1007/s00701-018-03781-5. Epub 2019 Jan 7.

PMID:
30617713
5.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium.

J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.

PMID:
30464053
6.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B.

Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.

PMID:
30340910
7.

Subtle excess in lifetime cancer risk related to CT scanning in Spanish young people.

Bosch de Basea M, Moriña D, Figuerola J, Barber I, Muchart J, Lee C, Cardis E.

Environ Int. 2018 Nov;120:1-10. doi: 10.1016/j.envint.2018.07.020. Epub 2018 Jul 25.

8.

Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis.

Armangue T, Spatola M, Vlagea A, Mattozzi S, Cárceles-Cordon M, Martinez-Heras E, Llufriu S, Muchart J, Erro ME, Abraira L, Moris G, Monros-Giménez L, Corral-Corral Í, Montejo C, Toledo M, Bataller L, Secondi G, Ariño H, Martínez-Hernández E, Juan M, Marcos MA, Alsina L, Saiz A, Rosenfeld MR, Graus F, Dalmau J; Spanish Herpes Simplex Encephalitis Study Group.

Lancet Neurol. 2018 Sep;17(9):760-772. doi: 10.1016/S1474-4422(18)30244-8. Epub 2018 Jul 23.

9.

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.

Candela S, Vanegas MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart J, Climent A, Ferrer E, Rumià J, Pérez-Dueñas B.

J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20.

PMID:
30028274
10.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M.

Int J Mol Sci. 2018 Feb 22;19(2). pii: E619. doi: 10.3390/ijms19020619.

11.

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas MI, Muchart J, Aquino L, Artuch R, Macaya A, Kurian MA, Dueñas P.

Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x.

12.

[Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge].

Puerta-Roldan P, Guillen-Quesada A, Carrasco R, Muchart J, Serrano M, Ferrer E.

Rev Neurol. 2017 Aug 1;65(3):112-116. Spanish.

13.

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. No abstract available.

PMID:
28600669
14.

Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia.

Casas-Alba D, de Sevilla MF, Valero-Rello A, Fortuny C, García-García JJ, Ortez C, Muchart J, Armangué T, Jordan I, Luaces C, Barrabeig I, González-Sanz R, Cabrerizo M, Muñoz-Almagro C, Launes C.

Clin Microbiol Infect. 2017 Nov;23(11):874-881. doi: 10.1016/j.cmi.2017.03.016. Epub 2017 Mar 23.

15.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. Erratum in: J Inherit Metab Dis. 2017 Jun 9;:.

PMID:
28341975
16.

Cerebral Proliferative Angiopathy in a Child.

Puerta P, Guillén A, Muchart J, González V, Ferrer E.

Pediatr Neurosurg. 2017;52(3):214-216. doi: 10.1159/000459629. Epub 2017 Mar 14. No abstract available.

PMID:
28288462
17.

Tissue sampling in diffuse intrinsic pontine glioma (DIPG) at progression.

Castañeda Heredia A, Puerta Roldan P, Guillen Quesada A, Sunol Capella M, de Torres Gomez-Pallete C, Muchart J, Cruz Martinez O, Mora J, Morales La Madrid A.

Pediatr Blood Cancer. 2017 Sep;64(9). doi: 10.1002/pbc.26492. Epub 2017 Feb 24. No abstract available.

PMID:
28233413
18.

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B.

Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Review.

PMID:
27079373
19.

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
20.

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.

21.

Trends and patterns in the use of computed tomography in children and young adults in Catalonia - results from the EPI-CT study.

Bosch de Basea M, Salotti JA, Pearce MS, Muchart J, Riera L, Barber I, Pedraza S, Pardina M, Capdevila A, Espinosa A, Cardis E.

Pediatr Radiol. 2016 Jan;46(1):119-29. doi: 10.1007/s00247-015-3434-5. Epub 2015 Aug 15.

22.

[Drooling therapy in children with neurological disorders].

Táboas-Pereira MA, Paredes-Mercado C, Alonso-Curcó X, Badosa-Pagès J, Muchart J, Póo P.

Rev Neurol. 2015 Jul 16;61(2):66-70. Spanish.

PMID:
26156441
23.

[Epidemiology and classification of arachnoid cysts in children].

Candela S, Puerta P, Alamar M, Barcik U, Guillén A, Muchart J, García-Fructuoso G, Ferrer-Rodríguez E.

Neurocirugia (Astur). 2015 Sep-Oct;26(5):234-40. doi: 10.1016/j.neucir.2015.02.007. Epub 2015 Apr 2. Spanish.

PMID:
25843209
24.

[Carbamazepine as treatment for the symptoms of myoclonias in subacute sclerosing panencephalitis].

Ulate-Campos A, Angel J, Petanàs-Argemí J, Natera-De Benito D, Ramos F, Sans-Capdevila Ó, Navarro S, Rebollo M, Muchart J, Fumadó V, González-Álvarez V.

Rev Neurol. 2015 Feb 1;60(3):142-3. Spanish. No abstract available.

25.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R.

Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2.

26.

[Optimization of radiological scoliosis assessment].

Enríquez G, Piqueras J, Catalá A, Oliva G, Ruiz A, Ribas M, Duran C, Rodrigo C, Rodríguez E, Garriga V, Maristany T, García-Fontecha C, Baños J, Muchart J, Alava F.

Med Clin (Barc). 2014 Jul;143 Suppl 1:62-7. doi: 10.1016/j.medcli.2014.07.013. Review. Spanish.

PMID:
25128362
27.

Vanishing white matter disease in a spanish population.

Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J.

J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. eCollection 2014. Review.

28.

Early identification of brain injury in infants with hypoxic ischemic encephalopathy at high risk for severe impairments: accuracy of MRI performed in the first days of life.

Agut T, León M, Rebollo M, Muchart J, Arca G, Garcia-Alix A.

BMC Pediatr. 2014 Jul 8;14:177. doi: 10.1186/1471-2431-14-177.

29.

Vagus nerve stimulator implantation for epilepsy in a paediatric hospital: outcomes and effect on quality of life.

Ulate-Campos A, Cean-Cabrera L, Petanas-Argemi J, García-Fructuoso G, Aparicio J, López-Sala A, Palacio-Navarro A, Mas MJ, Muchart J, Rebollo M, Sanmartí FX.

Neurologia. 2015 Oct;30(8):465-71. doi: 10.1016/j.nrl.2014.04.014. Epub 2014 Jun 26. English, Spanish.

30.

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B.

Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92.

31.

[Rhombencephalosynapsis, a rare congenital abnormality easy to diagnose].

Agut T, Muchart J, Delgadillo V, García-Alix A.

An Pediatr (Barc). 2014 Dec;81(6):e3-4. doi: 10.1016/j.anpedi.2013.12.017. Epub 2014 Feb 20. Spanish. No abstract available.

32.

Palliative switch: a surgical decision after hybrid procedure.

Perez-Negueruela C, Mayol J, Cesar S, Muchart J, Segura S, Caffarena-Calvar JM.

World J Pediatr Congenit Heart Surg. 2014 Jan 1;5(1):85-7. doi: 10.1177/2150135113512135.

PMID:
24403360
33.

Results of bronchial artery embolization for the treatment of hemoptysis caused by neoplasm.

Garcia-Olivé I, Sanz-Santos J, Centeno C, Andreo F, Muñoz-Ferrer A, Serra P, Sampere J, Michavila JM, Muchart J, Manzano JR.

J Vasc Interv Radiol. 2014 Feb;25(2):221-8. doi: 10.1016/j.jvir.2013.09.017. Epub 2013 Nov 16.

PMID:
24252773
34.

Treatment of a complicated penetrating ulcer of the descending thoracic aorta using a scalloped stent graft.

Esteban C, Pérez P, Muchart J, Sampere J, Martorell A, Llagostera S.

Ann Vasc Surg. 2014 Jan;28(1):264.e9-11. doi: 10.1016/j.avsg.2013.03.018. Epub 2013 Oct 6.

PMID:
24189003
35.

Predictors of recanalization in patients with life-threatening hemoptysis requiring artery embolization.

Garcia-Olivé I, Sanz-Santos J, Centeno C, Radua J, Andreo F, Sampere J, Michavila JM, Muchart J, Stojanovic Z, Ruiz Manzano J.

Arch Bronconeumol. 2014 Feb;50(2):51-6. doi: 10.1016/j.arbres.2013.06.003. Epub 2013 Aug 7. English, Spanish.

36.

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

Pérez-Dueñas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R.

Pediatrics. 2013 May;131(5):e1670-5. doi: 10.1542/peds.2012-2988. Epub 2013 Apr 15.

PMID:
23589815
37.

Temporal patterns in severe hemoptysis requiring bronchial artery embolization.

Garcia-Olivé I, Fiz JA, Sanz-Santos J, Andreo F, Sánchez-Martínez E, Sampere J, Muchart J, Michavila JM, Ruiz-Manzano J.

Multidiscip Respir Med. 2012 Dec 5;7(1):50. doi: 10.1186/2049-6958-7-50.

38.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Álvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, Pérez-Dueñas B.

Mov Disord. 2012 Sep 1;27(10):1295-8. doi: 10.1002/mds.25008. Epub 2012 Jul 6.

PMID:
22777947
39.

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R.

Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y.

PMID:
22012410
40.

[Isolated congenital adenohypophyseal hypoplasia].

León M, Muchart J, García-Alix A.

An Pediatr (Barc). 2012 Mar;76(3):165-6. doi: 10.1016/j.anpedi.2011.03.009. Epub 2011 Sep 22. Spanish. No abstract available.

41.

[Developmental amnesia as a focal cognitive sequela of a neonatal pathology].

Sans A, Colomé R, López-Sala A, Boix C, Muchart J, Rebollo M, Guitet M, Callejón-Póo L, Campistol J.

Rev Neurol. 2011 Mar 1;52 Suppl 1:S29-38. Spanish.

42.

Granulosa cell tumor and endometrial cancer: a case report and review of the literature.

Busquets M, Gonzalez-Bosquet E, Muchart J, Rovira C, Laïlla JM.

Eur J Gynaecol Oncol. 2010;31(5):575-8. Review.

PMID:
21061806
43.

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R.

J Inherit Metab Dis. 2010 Dec;33(6):795-802. doi: 10.1007/s10545-010-9196-1. Epub 2010 Sep 21.

PMID:
20857335
44.

Aortic thrombosis in antiphospholipid syndrome.

Letang E, Rodríguez-Carballeira M, Muchart J, Torres J, Ochoa de Echagüen A, Garau J.

Lupus. 2005;14(4):336-7. No abstract available.

PMID:
15864924
45.

[Diagnosis of renal artery aneurysm after an hypertensive emergency and treatment with stent placement].

Vera M, Muchart J.

Nefrologia. 2004;24(6):600-1. Spanish. No abstract available.

46.

[Endovascular resolution of iliac artery pseudoaneurysm in a transplanted patient].

Pérez P, Esteban C, Muchart J, Callejas JM.

Nefrologia. 2004;24(6):596-9. Spanish.

47.

[Ischemic brain lesions following carotid revascularisation procedures: a comparative study using diffusion-weighted magnetic resonance imaging].

García-Sánchez S, Millán-Torné M, Capellades-Font J, Muchart J, Callejas-P JM, Vila-Moriente N.

Rev Neurol. 2004 Jun 1-15;38(11):1013-7. Spanish.

48.

Screening for occult cancer in patients with acute deep vein thrombosis or pulmonary embolism.

Monreal M, Lensing AW, Prins MH, Bonet M, Fernández-Llamazares J, Muchart J, Prandoni P, Jiménez JA.

J Thromb Haemost. 2004 Jun;2(6):876-81.

49.

Pulmonary aneurysms in microscopic polyangiitis.

Ortiz-Santamaria V, Olivé A, Holgado S, Muchart J.

Clin Rheumatol. 2003 Dec;22(6):498-9. Epub 2003 Sep 16. No abstract available.

PMID:
14677042
50.

Should patients with deep vein thrombosis alone be treated as those with concomitant asymptomatic pulmonary embolism? A prospective study.

Monreal M, Büller H, Lensing AW, Bonet M, Roncales J, Muchart J, Fraile M.

Thromb Haemost. 2002 Dec;88(6):938-42.

PMID:
12529742

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