Detalhe da pesquisa
1.
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
2.
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Angiogenesis
; 26(1): 37-52, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902510
3.
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
4.
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
5.
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.
Cerebellum
; 22(6): 1308-1311, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227410
6.
History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world.
Epilepsia
; 64 Suppl 1: S3-S8, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707971
7.
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.
Epilepsia
; 64 Suppl 1: S31-S38, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622139
8.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Epilepsia
; 64 Suppl 1: S14-S21, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021642
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.
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
11.
Management of treatment-resistant nocturnal enuresis.
Pediatr Int
; 65(1): e15573, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37428825
12.
Comparison of the characteristics and factors influencing hospital visits among children with nocturnal enuresis in Japan: The Hirakata-Urayasu population-based cohort study.
Int J Urol
; 30(4): 408-414, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36702789
13.
CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral-pallidoluysian atrophy.
Neurobiol Dis
; 163: 105604, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34968706
14.
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
15.
Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.
J Hum Genet
; 67(2): 119-121, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483340
16.
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
J Hum Genet
; 67(6): 353-362, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027655
17.
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
J Hum Genet
; 67(7): 399-403, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091664
18.
The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy.
Mov Disord
; 37(6): 1131-1148, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445419
19.
Quantitative Evaluation of Cerebellar Function in Multiple System Atrophy with Transcranial Magnetic Stimulation.
Cerebellum
; 21(2): 219-224, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34128209
20.
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