Detalhe da pesquisa
1.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38380699
2.
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Cell Mol Life Sci
; 80(4): 110, 2023 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37000222
3.
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
J Neuromuscul Dis
; 9(1): 73-82, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34366366
4.
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Mol Genet Genomic Med
; 8(8): e1290, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32420686
5.
[Cryptogenic West syndrome: Clinical profile, response to treatment and prognostic factors]. / Síndrome de West criptogénico: perfil clínico, respuesta al tratamiento y factores pronósticos.
An Pediatr (Engl Ed)
; 89(3): 176-182, 2018 Sep.
Artigo
Espanhol
| MEDLINE | ID: mdl-29223473
6.
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
Clin Case Rep
; 4(9): 879-84, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27648268
7.
Autoimmune post-herpes simplex encephalitis of adults and teenagers.
Neurology
; 85(20): 1736-43, 2015 Nov 17.
Artigo
Inglês
| MEDLINE | ID: mdl-26491084
8.
Síndrome de West criptogénico: perfil clínico, respuesta al tratamiento y factores pronósticos / Cryptogenic West syndrome: Clinical profile, response to treatment and prognostic factors
An. pediatr. (2003. Ed. impr.)
; 89(3): 176-182, sept. 2018. tab, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-177089
9.
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
Brain Dev
; 33(7): 608-11, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20970936
10.
[Infantile psychosis secondary to methylphenidate]. / Psicosis infantil secundaria a metilfenidato.
Rev Neurol
; 52(7): 446-7, 2011 Apr 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-21425116
11.
[Cardiovascular side effects secondary to treatment with methylphenidate]. / Reacciones adversas cardiovasculares secundarias al tratamiento con metilfenidato.
Rev Neurol
; 50(9): 573-4, 2010 May 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-20443179
12.
Psicosis infantil secundaria a metilfenidato / Infantile psychosis secondary to methylphenidate
Rev. neurol. (Ed. impr.)
; 52(7): 446-447, 1 abr., 2011.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-87349
13.
Síndrome de West: etiología, opciones terapéuticas, evolución clínica y factores pronósticos / West syndrome: aetiology, therapeutic options, clinical course and prognostic factors
Rev. neurol. (Ed. impr.)
; 52(2): 81-89, 16 ene., 2011. tab, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-86966
14.
Reacciones adversas cardiovasculares secundarias al tratamiento con metilfenidato / No disponible
Rev. neurol. (Ed. impr.)
; 50(9): 573-574, 1 mayo, 2010.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-86660