[A case of CADASIL without characteristic anterior temporal pole lesion diagnosed by skin biopsy].

CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions. Intern Med (2016) 0.75

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med (2009) 1.96

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology (2013) 1.81

SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol (2004) 1.72

Spironolactone prevents early renal injury in streptozotocin-induced diabetic rats. Kidney Int (2004) 1.10

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1. Hum Mol Genet (2011) 1.08

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol (2004) 1.02

Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease. J Neurosci (2007) 0.95

Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. Dement Geriatr Cogn Disord (2008) 0.92

Neurophysiological and immunohistochemical studies on Guillain-Barre syndrome with IgG anti-GalNAc-GD1a antibodies-effects on neuromuscular transmission. J Neurol Sci (2004) 0.89

Osteoporosis as a risk factor for the recurrence of benign paroxysmal positional vertigo. Laryngoscope (2013) 0.86

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol (2007) 0.86

Two cases of hypertrophic pachymeningitis associated with myeloperoxidase antineutrophil cytoplasmic autoantibody (MPO-ANCA)-positive pulmonary silicosis in tunnel workers. Clin Rheumatol (2003) 0.85

Predictors of outcome in hypoglycemic encephalopathy. Diabetes Res Clin Pract (2013) 0.85

The prevalence and characteristics of metabolic syndrome in patients with vertigo. PLoS One (2013) 0.84

[Case of cerebral venous thrombosis due to graves' disease with increased factor VIII activity]. Rinsho Shinkeigaku (2006) 0.84

Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. Mov Disord (2010) 0.83

Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis. J Neurol Sci (2006) 0.83

[A case of inflammatory myopathy with widely skin rash following use of supplements containing Spirulina]. Rinsho Shinkeigaku (2011) 0.82

Pathology and sensitivity of current clinical criteria in corticobasal syndrome. Mov Disord (2013) 0.82

[Clinical analysis of metabolic syndrome in vertiginous diseases]. Nihon Jibiinkoka Gakkai Kaiho (2011) 0.80

DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles. Neurobiol Dis (2012) 0.79

[Case of orbital apex syndrome caused by invasive aspergillosis successfully treated during the diagnostic procedure by the use of voriconazole]. Rinsho Shinkeigaku (2008) 0.79

Vertebral basilar system dolichoectasia with marked infiltration of IgG4-containing plasma cells: a manifestation of IgG4-related disease? Neuropathology (2011) 0.79

Na/H exchange isoform 1 is involved in mineralocorticoid/salt-induced cardiac injury. Hypertension (2003) 0.79

New treatment strategy for cupulolithiasis associated with benign paroxysmal positional vertigo of the lateral canal: the head-tilt hopping exercise. Eur Arch Otorhinolaryngol (2014) 0.79

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family. Biochem Biophys Res Commun (2011) 0.78

[A case of Hashimoto's encephalopathy associated with Graves' disease]. Rinsho Shinkeigaku (2002) 0.78

Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation. Acta Neuropathol (2004) 0.78

Creutzfeldt-Jakob disease with an M232R substitution: report of a patient showing slowly progressive disease with abundant plaque-like PrP deposits in the cerebellum. Neuropathology (2009) 0.78

[Gadolinium enhancement of the anterior portion of the lumbosacral roots in a case of post-irradiation lumbosacral radiculopathy]. Rinsho Shinkeigaku (2005) 0.78

Cholesterol reduction and atherosclerosis inhibition by bezafibrate in low-density lipoprotein receptor knockout mice. Hypertens Res (2008) 0.77

Megacolon in an adult case of hypoganglionosis, a pseudo-Hirschsprung's disease: an autopsy study. Intern Med (2008) 0.77

Sacsin-related ataxia with neither retinal hypermyelination nor spasticity. Mov Disord (2007) 0.76

[A Japanese case of Streptococcus suis meningitis associated with lumbar epidural abscess]. Rinsho Shinkeigaku (2003) 0.76

Vasoactive intestinal peptide and cytokines enhance stem cell factor production from epidermal keratinocytes DJM-1. J Invest Dermatol (2002) 0.75

[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy]. Brain Nerve (2010) 0.75

[A case of dermatomyositis associated with chronic idiopathic myelofibrosis]. Rinsho Shinkeigaku (2006) 0.75

Megacolon in multiple system atrophy: safety concerns related to PEG. Mov Disord (2009) 0.75

[Neurolymphomatosis presenting as bilateral tongue atrophy: a case report]. Rinsho Shinkeigaku (2012) 0.75

[Reevaluation of validity of percent creatinuria for diagnosing steroid myopathy]. No To Shinkei (2006) 0.75

[A case of Behçet disease developing recurrent ischemic stroke with fever and scrotal ulcers]. Rinsho Shinkeigaku (2015) 0.75

[A case of progressive encephalomyelitis with rigidity and myoclonus associated with anti-GAD, anti-glycine receptor and anti-GM1 antibodies]. Rinsho Shinkeigaku (2015) 0.75

[Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)]. Brain Nerve (2017) 0.75

[A case of acute distigmine bromide intoxication in the therapeutic dosage for treatment of underactive neurogenic bladder]. No To Shinkei (2004) 0.75

[Transformation from chronic subdural hematoma into subdural empyema following cat bites: a case report]. Rinsho Shinkeigaku (2015) 0.75

A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review. Cerebrovasc Dis (2017) 0.75

[Successful delivery following subcutaneous heparin administration in a 7-weeks pregnant patient suffering from cerebral venous thrombosis due to secondary protein S deficiency]. Rinsho Shinkeigaku (2006) 0.75

[Disease notification and self-determination in treatment decisions for patients with Creutzfeldt-Jakob disease]. Rinsho Shinkeigaku (2014) 0.75

[A case of conus medullaris infarction expanding to the vertebral bodies, major psoas and erector spinae muscles]. Rinsho Shinkeigaku (2015) 0.75