Detalhe da pesquisa
1.
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
Hum Mol Genet
; 32(8): 1301-1312, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426838
2.
Photo-oxygenation of histidine residue inhibits α-synuclein aggregation.
FASEB J
; 37(12): e23311, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962096
3.
Clinicopathological study of dementia with grains presenting with parkinsonism compared with a typical case.
Neuropathology
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558069
4.
Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease.
Neurobiol Dis
; 177: 105989, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36621630
5.
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.
J Hum Genet
; 68(3): 169-174, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670296
6.
Long-term survival from progressive multifocal leukoencephalopathy in living-donor liver transplant recipient with preformed donor-specific antibody.
J Neurovirol
; 29(5): 519-523, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668873
7.
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.
Ann Neurol
; 91(3): 317-328, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064929
8.
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
J Peripher Nerv Syst
; 28(3): 513-517, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170477
9.
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
J Peripher Nerv Syst
; 28(3): 518-521, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249095
10.
Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.
PLoS Genet
; 16(5): e1008826, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32453729
11.
Comparative whole transcriptome analysis of Parkinson's disease focusing on the efficacy of zonisamide.
J Neurol Neurosurg Psychiatry
; 93(5): 509-512, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264450
12.
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.
Cerebellum
; 21(6): 954-962, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845661
13.
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.
Cerebellum
; 2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097244
14.
Expanded clinical spectrum of oculopharyngodistal myopathy type 1.
Muscle Nerve
; 66(6): 679-685, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36052448
15.
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.
BMC Neurol
; 22(1): 406, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329418
16.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855352
17.
Galectin 3-binding protein suppresses amyloid-ß production by modulating ß-cleavage of amyloid precursor protein.
J Biol Chem
; 295(11): 3678-3691, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996371
18.
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Neurogenetics
; 22(1): 11-17, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815063
19.
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.
J Hum Genet
; 66(3): 237-241, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920598
20.
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Clin Genet
; 99(3): 384-395, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200426