Detalhe da pesquisa
1.
Atrophy network mapping of clinical subtypes and main symptoms in frontotemporal dementia.
Brain
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38426222
2.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
3.
Application of the mild behavioral impairment checklist in Chinese patients with the behavioral variant of frontotemporal dementia.
Neurol Sci
; 45(2): 557-564, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668827
4.
Peripheral inflammation in behavioural variant frontotemporal dementia: associations with central degeneration and clinical measures.
J Neuroinflammation
; 20(1): 65, 2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890594
5.
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia.
Clin Genet
; 104(3): 350-355, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148197
6.
Involvement of specific striatal subregion contributes to executive deficits in Alzheimer disease.
J Psychiatry Neurosci
; 48(2): E126-E134, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045477
7.
A clinical and genetic study of SPG31 in Japan.
J Hum Genet
; 67(7): 421-425, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132160
8.
Ubap1 knock-in mice reproduced the phenotype of SPG80.
J Hum Genet
; 67(12): 679-686, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962060
9.
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
BMC Neurol
; 22(1): 17, 2022 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34996390
10.
A Nepalese family with an REEP2 mutation: clinical and genetic study.
J Hum Genet
; 66(7): 749-752, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526816
11.
A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.
BMC Neurol
; 21(1): 439, 2021 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753439
12.
Oculomotor Paresis with Cyclic Spasms in Chinese Populations: A Review of the Chinese Literature and a Case Report.
Pediatr Neurosurg
; 56(4): 361-368, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33946073
13.
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.
J Hum Genet
; 65(12): 1143-1147, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32694621
14.
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.
J Hum Genet
; 64(11): 1055-1065, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31515522
15.
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.
J Hum Genet
; 64(1): 55-59, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302010
16.
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.
J Hum Genet
; 64(1): 61-63, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410098
17.
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.
BMC Neurol
; 19(1): 125, 2019 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31189464
18.
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 24(1): 156-160, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394614
19.
Presence of anti-IgLON5 antibody in a case of sporadic Creutzfeldt-Jakob disease with sleep disturbance as a prominent symptom.
Neurol Sci
; 44(2): 737-740, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198854
20.
A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.
Neurol Sci
; 43(3): 2123-2126, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35020098