Detalhe da pesquisa
1.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia
; 64(12): 3377-3388, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734923
2.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969638
3.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
4.
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Dev Med Child Neurol
; 61(12): 1439-1447, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410843
5.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618507
6.
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).
Acta Neurol Belg
; 121(6): 1669-1675, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33113107
7.
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
Eur J Med Genet
; 64(9): 104287, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34252586
8.
FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Ann Clin Transl Neurol
; 7(4): 565-572, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162847
9.
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Neurol Genet
; 6(6): e534, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33659639
10.
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Eur J Med Genet
; 61(12): 765-772, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315939