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1.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
Cerebellum
; 2024 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38324175
2.
Remote Patient Monitoring for Neuropsychiatric Disorders: A Scoping Review of Current Trends and Future Perspectives from Recent Publications and Upcoming Clinical Trials.
Telemed J E Health
; 28(9): 1235-1250, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35073206
3.
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
J Hum Genet
; 66(4): 419-429, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33040085
4.
Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
J Hum Genet
; 66(4): 449-450, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33184460
5.
Survey on the Impact of the COVID-19 Pandemic on Patients with Parkinson's Disease and Their Caregivers in Japan.
Patient Prefer Adherence
; 17: 1221-1235, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37187576
6.
Analytical and clinical validity of wearable, multi-sensor technology for assessment of motor function in patients with Parkinson's disease in Japan.
Sci Rep
; 13(1): 3600, 2023 03 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36918552
7.
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
J Inherit Metab Dis
; 35(2): 301-10, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21984055
8.
Effects of rasagiline on Parkinson's Disease Questionnaire (PDQ-39) emotional well-being domain in patients with Parkinson's disease: A post-hoc analysis of clinical trials in Japan.
PLoS One
; 17(1): e0262796, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35077474
9.
[Monthly low-dose immunoglobulin infusion as a maintenance therapy for multifocal motor neuropathy may reduce allergic adverse effects: a case report].
Rinsho Shinkeigaku
; 50(8): 561-5, 2010 Aug.
Artículo
en Japonés
| MEDLINE | ID: mdl-20803965
10.
[Treatment of subcutaneous and mediastinal emphysema with cuirass ventilation in a patient with Pompe disease undergoing non-invasive positive pressure ventilation].
Rinsho Shinkeigaku
; 50(5): 306-10, 2010 May.
Artículo
en Japonés
| MEDLINE | ID: mdl-20535978
11.
Burst spinal cord stimulation for pain and motor function in Parkinson's disease: A case series.
Clin Park Relat Disord
; 3: 100043, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-34316628
12.
[Successful treatment of recurrent hypoglycemia by pioglitazone in a patient with myotonic dystrophy].
Rinsho Shinkeigaku
; 49(10): 641-5, 2009 Oct.
Artículo
en Japonés
| MEDLINE | ID: mdl-19999145
13.
National platform for Rare Diseases Data Registry of Japan.
Learn Health Syst
; 3(3): e10080, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31317070
14.
Establishment of a Comprehensive Information Infrastructure and a Support Organization for Rare Disease Research in Japan (RADDAR-J).
Stud Health Technol Inform
; 264: 1080-1083, 2019 Aug 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31438091
15.
Lidocaine injections and neck corset wearing improve dropped head syndrome in Parkinson's disease and related disorders.
Clin Park Relat Disord
; 1: 82-85, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-34316606
16.
Dysphagia Causes Symptom Fluctuations after Oral L-DOPA Treatment in a Patient with Parkinson Disease.
Case Rep Neurol
; 10(1): 101-107, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29681829
17.
Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD).
Orphanet J Rare Dis
; 13(1): 208, 2018 11 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-30458817
18.
Consensus for the measurement of the camptocormia angle in the standing patient.
Parkinsonism Relat Disord
; 52: 1-5, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907329
19.
Role of the external oblique muscle in upper camptocormia for patients with Parkinson's disease.
Mov Disord
; 27(6): 802-3, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22290442
20.
[The role of endovascular treatment for multiple intracranial aneurysms with subarachnoid hemorrhage].
No Shinkei Geka
; 35(2): 143-9, 2007 Feb.
Artículo
en Japonés
| MEDLINE | ID: mdl-17310753