Detalhe da pesquisa
1.
Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.
EMBO J
; 41(22): e110963, 2022 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36217825
2.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35979925
3.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Cell Mol Life Sci
; 79(10): 526, 2022 Sep 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36136249
4.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(5): 1206-1216, 2016 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27843126
5.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum Mutat
; 39(9): 1284-1298, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29858556
6.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med
; 20(6): 614-621, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29309402
7.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28253535
8.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(6): 1406-1408, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27912047
9.
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Front Neurosci
; 13: 993, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31607845