Detalhe da pesquisa
1.
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.
Genet Med
; 23(3): 516-523, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082561
2.
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Int J Mol Sci
; 22(6)2021 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33802230
3.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet
; 30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697416
4.
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Neurol Genet
; 8(5): e200020, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36187725
5.
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Eur J Hum Genet
; 30(3): 298-306, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017693
6.
Exploring two-photon optogenetics beyond 1100 nm for specific and effective all-optical physiology.
iScience
; 24(3): 102184, 2021 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33718836
7.
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Front Genet
; 12: 663643, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046058
8.
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).
Eur J Paediatr Neurol
; 30: 121-127, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33132036
9.
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Biomedicines
; 8(11)2020 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33126500
10.
Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis.
PLoS One
; 11(8): e0161660, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27557111