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.
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Neurogenetics
; 24(4): 291-301, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606798
3.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain
; 145(11): 3985-3998, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957489
4.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
5.
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
6.
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
7.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Hum Mol Genet
; 26(8): 1432-1443, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158749
8.
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.
Muscle Nerve
; 59(3): 354-357, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30246259
9.
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Neurobiol Dis
; 119: 159-171, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30092269
10.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633435
11.
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.
Duodecim
; 133(7): 683-7, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243459
12.
De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.
Brain
; 143(12): e104, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206935
13.
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
Hum Mol Genet
; 22(15): 2975-83, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23562820
14.
Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
Brain
; 141(9): e67, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982292
15.
[The many faces of neurosyphilis]. / Neurosyfiliksen monet kasvot.
Duodecim
; 130(6): 589-93, 2014.
Artigo
em Fi
| MEDLINE | ID: mdl-24724458
16.
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Neuromuscul Disord
; 35: 29-32, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219297
17.
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Neurogenetics
; 14(2): 123-32, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456260
18.
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.
Front Neurol
; 14: 1277944, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38020590
19.
Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism.
Cell Calcium
; 114: 102782, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481871
20.
High mitochondrial DNA copy number has detrimental effects in mice.
Hum Mol Genet
; 19(13): 2695-705, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20413656