Detalhe da pesquisa
1.
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Ann Neurol
; 95(3): 607-613, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062616
2.
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet
; 68(10): 689-697, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308565
3.
Clinical outcomes and failure patterns after postoperative radiotherapy for oral cavity squamous cell carcinoma.
Strahlenther Onkol
; 2023 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37999789
4.
Difference in failure patterns after stereotactic body radiotherapy for lung cancer according to clinical T stage based on 4D computed tomography.
Strahlenther Onkol
; 199(5): 465-476, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477250
5.
Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Eur J Neurol
; 30(5): 1256-1261, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36705320
6.
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Brain
; 145(3): 1139-1150, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355059
7.
Clinical course of longer than five years after definitive radiotherapy for nasopharyngeal carcinoma.
Int J Clin Oncol
; 28(12): 1607-1615, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798414
8.
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Genomics
; 114(5): 110469, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041634
9.
Factors associated with osteoporosis and fractures in patients with systemic lupus erythematosus: Kyoto Lupus Cohort.
Mod Rheumatol
; 34(1): 113-121, 2023 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680424
10.
Dose difference between anisotropic analytical algorithm (AAA) and Acuros XB (AXB) caused by target's air content for volumetric modulated arc therapy of head and neck cancer.
Rep Pract Oncol Radiother
; 28(3): 399-406, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795404
11.
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Clin Genet
; 102(1): 3-11, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342932
12.
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Brain
; 144(4): 1103-1117, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791773
13.
Usefulness of rapid MR angiography using two-point Dixon for evaluating carotid and aortic plaques.
Neuroradiology
; 64(4): 693-702, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559244
14.
Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy.
Neurol Sci
; 43(7): 4267-4274, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237894
15.
Phenotypic landscape of systemic lupus erythematosus: An analysis of the Kyoto Lupus Cohort.
Mod Rheumatol
; 32(3): 571-576, 2022 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894258
16.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
17.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
18.
MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.
EMBO J
; 36(9): 1227-1242, 2017 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283581
19.
New clinical data on human spinal cord re-irradiation tolerance.
Strahlenther Onkol
; 197(6): 463-473, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950265
20.
Irinotecan and Gemcitabine as Second-Line Treatment in Patients with Malignant Pleural Mesothelioma following Platinum plus Pemetrexed Chemotherapy: A Retrospective Study.
Oncology
; 99(3): 161-168, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053560