Detalhe da pesquisa
1.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
2.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
3.
Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders.
Mol Psychiatry
; 26(12): 7225-7246, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34127816
4.
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Hum Mol Genet
; 28(4): 584-597, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335140
5.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia
; 62(1): e13-e21, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280099
6.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet
; 27(4): 589-600, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29267967
7.
Remodeled cortical inhibition prevents motor seizures in generalized epilepsy.
Ann Neurol
; 84(3): 436-451, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30048010
8.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Ann Neurol
; 83(6): 1089-1095, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518281
9.
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Epilepsia
; 60(9): 1881-1894, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31468518
10.
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Am J Hum Genet
; 94(6): 891-7, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814191
11.
The genetic landscape of infantile spasms.
Hum Mol Genet
; 23(18): 4846-58, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781210
12.
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
Hum Mutat
; 36(8): 753-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25864427
13.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
14.
CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures.
Ann Neurol
; 74(2): 209-22, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595603
15.
WONOEP appraisal: new genetic approaches to study epilepsy.
Epilepsia
; 55(8): 1170-86, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24965021
16.
An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.
Muscle Nerve
; 49(1): 134-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23893323
17.
PHACTRing in actin: actin deregulation in genetic epilepsies.
Brain
; 141(11): 3084-3088, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30364981
18.
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective.
Ther Adv Rare Dis
; 5: 26330040241245725, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38681799
19.
Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons.
J Neurosci
; 32(49): 17690-705, 2012 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23223290
20.
Interneuron odyssey: molecular mechanisms of tangential migration.
Front Neural Circuits
; 17: 1256455, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37779671