Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36446582
2.
A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy.
Epilepsia
; 64(9): e184-e189, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37335529
3.
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.
Neuropediatrics
; 52(3): 192-200, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33657631
4.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Int J Mol Sci
; 22(23)2021 Nov 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34884460
5.
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Am J Med Genet A
; 182(1): 257-267, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31769173
6.
[Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies]. / Prevalencia de los trastornos del espectro autista en niños en Estados Unidos, Europa y España: coincidencias y discrepancias.
Medicina (B Aires)
; 79(Suppl 1): 4-9, 2019.
Artigo
Espanhol
| MEDLINE | ID: mdl-30776272
7.
Insertion of fully covered self-expanding metal stents in benign biliary diseases.
Rev Esp Enferm Dig
; 110(1): 30-34, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29106289
8.
Herpes simplex virus encephalitis is a trigger of brain autoimmunity.
Ann Neurol
; 75(2): 317-23, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24318406
9.
Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.
J Neurooncol
; 118(2): 205-223, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24771286
10.
Pediatric anti-N-methyl-D-aspartate receptor encephalitis-clinical analysis and novel findings in a series of 20 patients.
J Pediatr
; 162(4): 850-856.e2, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23164315
11.
Impoverished Conceptions of Gene Causation and Therapy in Developmental Neurology.
Pediatr Neurol
; 148: 198-205, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37652816
12.
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D).
Sci Rep
; 13(1): 3465, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36859467
13.
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D).
Sci Rep
; 13(1): 8951, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37268656
14.
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
Neurol Ther
; 12(1): 89-105, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36269538
15.
Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol.
PLoS One
; 17(2): e0264006, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35167619
16.
Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study.
Neurol Ther
; 11(3): 1209-1219, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35657490
17.
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.
Lancet Neurol
; 19(3): 234-246, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32057303
18.
[New anti-epileptic drugs in Paediatrics]. / Nuevos fármacos antiepilépticos en Pediatría.
An Pediatr (Engl Ed)
; 91(6): 415.e1-415.e10, 2019 Dec.
Artigo
Espanhol
| MEDLINE | ID: mdl-31708334
19.
Identifying the educational needs of physicians in pediatric epilepsy in order to improve care: results from a needs assessment in Germany, Spain, and the United States.
Epileptic Disord
; 20(4): 239-256, 2018 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30078771
20.
Autoimmune post-herpes simplex encephalitis of adults and teenagers.
Neurology
; 85(20): 1736-43, 2015 Nov 17.
Artigo
Inglês
| MEDLINE | ID: mdl-26491084