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Article
Open AccessPathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson’s disease
Missense variants in leucine-rich repeat kinase 2 (LRRK2) lead to familial and sporadic Parkinson’s disease (PD). The pathological features of PD patients with LRRK2 variants differ. Here, we report an autopsy ca...
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Article
Open AccessUnclassified four-repeat tauopathy associated with familial parkinsonism and progressive respiratory failure
We describe an autopsied patient with familial parkinsonism and unclassified four repeat-tau (4R-tau) aggregation. She presented with bradykinesia, truncal dystonia, and mild amnesia at the age of 61 and then ...
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Article
Painful legs and moving toes syndrome evaluated through brain single photon emission computed tomography: a case series
Painful legs and moving toes (PLMT) syndrome is a clinical entity characterized by persistent pain in the feet or legs and involuntary movements of one or more toes. The precise patho-mechanisms of PLMT still ...
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Article
Open AccessIsolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations
Leucine-rich repeat kinase 2 (LRRK2) is the most common causative gene for autosomal dominant Parkinson’s disease (PD) and is also known to be a susceptibility gene for sporadic PD. Although clinical symptoms wit...
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Article
GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease
Guanosine triphosphate cyclohydrolase I (GCH1) mutations are associated with increased risk for dopa-responsive dystonia (DRD) and Parkinson’s disease (PD). Herein, we investigated the frequency of GCH1 mutations...
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Article
COQ2 variants in Parkinson’s disease and multiple system atrophy
Coenzyme Q2, polyprenyltransferase (COQ2) variants have been reported to be associated with multiple system atrophy (MSA). However, the relationship between COQ2 variants and familial Parkinson’s disease (PD) rem...
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Article
Paraneoplastic neuromyotonia due to lung carcinoma and invisible muscle cramps evaluated using ultrasonography
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Article
Quantitative evaluation of electroconvulsive therapy for Parkinson’s disease with refractory psychiatric symptoms
Patients with advanced-stage Parkinson’s disease (PD) occasionally experience refractory depression or catatonic stupor. Electroconvulsive therapy (ECT) has been reported as a successful procedure for both sev...
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Article
Open AccessVulnerability to traumatic stress in fibromyalgia patients: 19 month follow-up after the great East Japan disaster
The aim of this study was to investigate vulnerability and long-term influence of traumatic stress caused by the Great East Japan Disaster which occurred on March 11, 2011, in patients with fibromyalgia, which...
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Article
The Japanese version of the modified ACR Preliminary Diagnostic Criteria for Fibromyalgia and the Fibromyalgia Symptom Scale: reliability and validity
The aim of this study is to investigate the reliability and validity of the Japanese version of the modified American College of Rheumatology (ACR) Preliminary Diagnostic Criteria for Fibromyalgia (mACR 2010-J...
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Article
Open AccessAcute transient freezing of gait in a patient with posterior reversible encephalopathy syndrome
Posterior reversible encephalopathy syndrome (PRES) is a transient clinical and neuroradiologic syndrome caused by cerebral vasogenic edema. Various reversible neurologic symptoms were shown in patients with P...
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Article
Open AccessLRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors
Mutations in the LRRK2 gene are the most common cause of genetic Parkinson’s disease. Although the mechanisms behind the pathogenic effects of LRRK2 mutations are still not clear, data emerging from in vitro and
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Article
The Japanese version of the 2010 American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia and the Fibromyalgia Symptom Scale: reliability and validity
The aim of this study was to investigate the reliability and the validity of the Japanese version of the 2010 American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia (ACR 2010-J), and...
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Article
Methotrexate leukoencephalopathy mimics acute progressive stroke
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Article
Aortopulmonary window, aortic origin of the right pulmonary artery, and interrupted aortic arch: Detection by two-dimensional and color Doppler echocardiography in an infant
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Article
Myocardial Excitation-contraction Coupling in the Fetus of Alloxan-diabetic Rabbit
ABSTRACT: This study was conducted to investigate myocardial excitation-contraction coupling in the fetus of the diabetic rabbit (FDM). On day 14 of gestation, diabetes was induced in pregnant rabbits by allox...
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Article
174 EFFECTS OF HYPOXIA AND REOXYGENATION (re-O2) ON CREATINE KINASE (CK) RELEASE AND TISSUE Ca2+ UPTAKE IN THE NEWBORN MYOCARDIUM
Sarcolemmal damage and tissue Ca2+ uptake were determined during hypoxia and re-O2 in isolated, arterially perfused newborn (NB) and adult (A) rabbit hearts. Tissue 47Ca2+ uptake was measured by δ -probe. CK rele...
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Article
216 EFFECTS OF HYPOXIA AND REOXYGENATION ON MITOCHONDRIAL FUNCTION IN THE NEWBORN MYOCARDIUM
This study was designed to evaluate the effect of hypoxia (N2) and reoxygenation (re-O2) on mitochondrial function (MF) in the newborn (NB) and adult (A) rabbit heart. The heart was isolated, arterially perfused ...
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Article
142 EFFECT OF VERAPAMIL ON MECHANICAL FUNCTION OF THE NEONATAL RABBIT HEART
Previous data from our laboratory suggest that the newborn (NB) rabbit heart is greatly dependent on extracellular calcium (Ca) for excitation-contraction coupling. Verapamil (V), a calcium antagonist, is curr...
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Article
177 EFFECT OF ISCHEMIA ON MECHANICAL FUNCTION IN THE NEONATAL RABBIT HEART
This study was designed to evaluate the effect of ischemia and reperfusion on myocardial mechanical function in the neonate. Newborn (NB,n=14) and adult (A,n=14) rabbit hearts were studied utilizing the isolat...
