Detalhe da pesquisa
1.
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Hum Mol Genet
; 31(6): 958-974, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635923
2.
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.
Acta Neurol Scand
; 145(1): 63-72, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418069
3.
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.
Neurobiol Dis
; 141: 104940, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32437855
4.
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Neuromuscul Disord
; 35: 29-32, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219297
5.
Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons.
Front Cell Dev Biol
; 9: 820105, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237613
6.
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
J Neurol
; 266(2): 353-360, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515627
7.
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
Neurol Genet
; 4(3): e244, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29888333
8.
Increased circulating concentrations of mesencephalic astrocyte-derived neurotrophic factor in children with type 1 diabetes.
Sci Rep
; 6: 29058, 2016 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27356471