Detalhe da pesquisa
1.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
Cerebellum
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324175
2.
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
J Hum Genet
; 68(3): 131-152, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35691950
3.
Videofluoroscopic Dysphagia Scale as an Additional Indicator of Gastrostomy in Patients with Amyotrophic Lateral Sclerosis with Dysphagia.
Tohoku J Exp Med
; 259(4): 293-300, 2023 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36696983
4.
Long-term outcomes after surgery to prevent aspiration for patients with amyotrophic lateral sclerosis.
BMC Neurol
; 22(1): 94, 2022 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296264
5.
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
J Hum Genet
; 66(10): 965-972, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33744911
6.
Aberrant interaction between FUS and SFPQ in neurons in a wide range of FTLD spectrum diseases.
Brain
; 143(8): 2398-2405, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770214
7.
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy.
Mol Ther
; 28(4): 1133-1153, 2020 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32087766
8.
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
Hum Mutat
; 41(9): 1540-1554, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400077
9.
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.
J Neurol Neurosurg Psychiatry
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839274
10.
Interstitial pneumonia and other adverse events in riluzole-administered amyotrophic lateral sclerosis patients: a retrospective observational study.
BMC Neurol
; 19(1): 72, 2019 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31029113
11.
Aberrant astrocytic expression of chondroitin sulfate proteoglycan receptors in a rat model of amyotrophic lateral sclerosis.
J Neurosci Res
; 96(2): 222-233, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752900
12.
[Therapeutic development for GNE myopathy.]
Clin Calcium
; 27(3): 429-434, 2017.
Artigo
em Japonês
| MEDLINE | ID: mdl-28232658
13.
Proteasome dysfunction induces muscle growth defects and protein aggregation.
J Cell Sci
; 127(Pt 24): 5204-17, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25380823
14.
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.
Muscle Nerve
; 54(3): 398-404, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26823199
15.
Immunolocalization of corticotropin-releasing hormone (CRH) and its receptors (CRHR1 and CRHR2) in human endometrial carcinoma: CRHR1 as a potent prognostic factor.
Int J Gynecol Cancer
; 24(9): 1549-57, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25254562
16.
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
Ann Clin Transl Neurol
; 11(3): 577-592, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158701
17.
Nationwide survey of patients with multisystem proteinopathy in Japan.
Ann Clin Transl Neurol
; 11(4): 938-945, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287512
18.
The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023.
Rinsho Shinkeigaku
; 64(4): 252-271, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522911
19.
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
J Hum Genet
; 58(5): 259-66, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446887
20.
Spinal Cord Infarction in an Adolescent with Protein S Deficiency: A Case Report and Literature Review.
Intern Med
; 62(16): 2415-2418, 2023 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631088