Detalhe da pesquisa
1.
tRNA Dysregulation in Neurodevelopmental and Neurodegenerative Diseases.
Annu Rev Cell Dev Biol
; 39: 223-252, 2023 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339680
2.
Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons.
Proc Natl Acad Sci U S A
; 120(44): e2313010120, 2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878717
3.
Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Hum Mol Genet
; 32(8): 1276-1288, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413117
4.
A Unique Role for Protocadherin γC3 in Promoting Dendrite Arborization through an Axin1-Dependent Mechanism.
J Neurosci
; 43(6): 918-935, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604170
5.
Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.
Neurobiol Dis
; 195: 106501, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38583640
6.
Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D.
J Peripher Nerv Syst
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38551018
7.
Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.
J Peripher Nerv Syst
; 28(3): 317-328, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551045
8.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Brain
; 145(11): 3999-4015, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148379
9.
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
J Anat
; 241(5): 1169-1185, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875719
10.
A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 27(1): 50-57, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34851050
11.
T Cells from NOD-PerIg Mice Target Both Pancreatic and Neuronal Tissue.
J Immunol
; 205(8): 2026-2038, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938729
12.
CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4.
PLoS Genet
; 15(12): e1008554, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31877124
13.
Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.
J Neurosci
; 40(23): 4576-4585, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341096
14.
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Nature
; 526(7575): 710-4, 2015 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503042
15.
DSCAM promotes self-avoidance in the developing mouse retina by masking the functions of cadherin superfamily members.
Proc Natl Acad Sci U S A
; 115(43): E10216-E10224, 2018 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297418
16.
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.
Proc Natl Acad Sci U S A
; 114(16): E3324-E3333, 2017 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28351971
17.
Model validity for preclinical studies in precision medicine: precisely how precise do we need to be?
Mamm Genome
; 30(5-6): 111-122, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953144
18.
Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.
J Neurosci
; 36(11): 3254-67, 2016 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26985035
19.
Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.
Hum Mol Genet
; 24(15): 4397-406, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972375
20.
Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Nature
; 532(7599): 402, 2016 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789244