Detalhe da pesquisa
1.
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Brain
; 146(5): 1844-1858, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36314052
2.
Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth.
Cell Mol Biol (Noisy-le-grand)
; 69(10): 1-8, 2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953591
3.
Astrocyte-targeting RNA interference against mutated superoxide dismutase 1 induces motoneuron plasticity and protects fast-fatigable motor units in a mouse model of amyotrophic lateral sclerosis.
Glia
; 70(5): 842-857, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34978340
4.
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.
Neurobiol Dis
; 164: 105609, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34990802
5.
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Proc Natl Acad Sci U S A
; 116(6): 2328-2337, 2019 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659145
6.
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
Hum Mol Genet
; 28(14): 2378-2394, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090908
7.
Parkin functionally interacts with PGC-1α to preserve mitochondria and protect dopaminergic neurons.
Hum Mol Genet
; 26(3): 582-598, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053050
8.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 89(8): 870-878, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449460
9.
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.
Brain
; 138(Pt 4): 875-90, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678561
10.
Calreticulin levels determine onset of early muscle denervation by fast motoneurons of ALS model mice.
Neurobiol Dis
; 73: 130-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25277755
11.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Hum Mol Genet
; 22(20): 4224-32, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777631
12.
Reduced calreticulin levels link endoplasmic reticulum stress and Fas-triggered cell death in motoneurons vulnerable to ALS.
J Neurosci
; 32(14): 4901-12, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22492046
13.
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Hum Mutat
; 34(7): 953-60, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568759
14.
Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells.
PLoS One
; 17(10): e0272097, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36194565
15.
Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Brain
; 138(Pt 11): e394, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088963
16.
Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?
Cell Death Dis
; 9(3): 333, 2018 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29491369
17.
Death Receptors in the Selective Degeneration of Motoneurons in Amyotrophic Lateral Sclerosis.
J Neurodegener Dis
; 2013: 746845, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-26316997