Detalhe da pesquisa
1.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Am J Hum Genet
; 110(7): 1086-1097, 2023 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37339631
2.
Sortilin acts as an endocytic receptor for α-synuclein fibril.
FASEB J
; 37(7): e23017, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37272890
3.
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.
Cerebellum
; 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421477
4.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
Cerebellum
; 2024 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38324175
5.
Diagnostic implications of MOG-IgG detection in sera and cerebrospinal fluids.
Brain
; 146(9): 3938-3948, 2023 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37061817
6.
Effects of CX3CR1 and CXCR2 antagonists on running-dependent intramuscular neutrophil recruitments and myokine upregulation.
Am J Physiol Endocrinol Metab
; 324(5): E375-E389, 2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36856190
7.
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
J Hum Genet
; 68(3): 131-152, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35691950
8.
Pathogenic role of anti-cN1A autoantibodies in sporadic inclusion body myositis.
J Neurol Neurosurg Psychiatry
; 94(12): 1018-1024, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37451693
9.
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
J Neurol Neurosurg Psychiatry
; 94(10): 816-824, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37142397
10.
Oral edaravone demonstrated a favorable safety profile in patients with amyotrophic lateral sclerosis after 48 weeks of treatment.
Muscle Nerve
; 67(2): 124-129, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36504406
11.
Referral odyssey plot to visualize causes of surgical delay in mesial temporal lobe epilepsy with hippocampal sclerosis.
Epilepsy Behav
; 147: 109434, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37716330
12.
Time-Dependent Analysis of Sicca Symptoms and Anti-Ro/SSA and Anti-La/SSB Antibodies in Patients with AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder.
Tohoku J Exp Med
; 260(3): 215-221, 2023 Jul 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37081618
13.
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
Inglês
| MEDLINE | ID: mdl-36696983
14.
Upregulated complement receptors correlate with Fc gamma receptor 3A-positive natural killer and natural killer-T cells in neuromyelitis optica spectrum disorder.
J Neuroinflammation
; 19(1): 296, 2022 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36503481
15.
Long-term outcomes after surgery to prevent aspiration for patients with amyotrophic lateral sclerosis.
BMC Neurol
; 22(1): 94, 2022 Mar 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35296264
16.
Staging of astrocytopathy and complement activation in neuromyelitis optica spectrum disorders.
Brain
; 144(8): 2401-2415, 2021 09 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33711152
17.
Identification of hub molecules of FUS-ALS by Bayesian gene regulatory network analysis of iPSC model: iBRN.
Neurobiol Dis
; 155: 105364, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33857636
18.
Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.
Hum Mol Genet
; 28(20): 3486-3497, 2019 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31577344
19.
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
Inglês
| MEDLINE | ID: mdl-33744911
20.
Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study.
Brain
; 143(5): 1431-1446, 2020 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32412053