PubRank

Hiroshi Doi

Author PubWeight™ 81.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat Med 2004 3.26
2 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 2012 2.75
3 A volumetric intravascular ultrasound comparison of early drug-eluting stent thrombosis versus restenosis. JACC Cardiovasc Interv 2009 2.30
4 Increased expression of p62 in expanded polyglutamine-expressing cells and its association with polyglutamine inclusions. J Neurochem 2004 1.98
5 The dynamic nature of coronary artery lesion morphology assessed by serial virtual histology intravascular ultrasound tissue characterization. J Am Coll Cardiol 2010 1.90
6 Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat 2010 1.83
7 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet 2012 1.64
8 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013 1.46
9 Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations. Nucleic Acids Res 2010 1.39
10 Morphological changes and clinical impact of unstable plaques within untreated segments of acute myocardial infarction patients during a 3-year follow-up: an analysis from the HORIZONS-AMI trial. Coron Artery Dis 2015 1.39
11 Brown-Sèquard syndrome produced by cervical disc herniation: report of two cases and review of the literature. Spine J 2003 1.35
12 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 2012 1.34
13 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 2013 1.32
14 Runx2 represses myocardin-mediated differentiation and facilitates osteogenic conversion of vascular smooth muscle cells. Mol Cell Biol 2007 1.25
15 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 2011 1.24
16 Basic fibroblast growth factor antagonizes transforming growth factor-beta1-induced smooth muscle gene expression through extracellular signal-regulated kinase 1/2 signaling pathway activation. Arterioscler Thromb Vasc Biol 2004 1.19
17 Intravascular ultrasound classification of plaque distribution in left main coronary artery bifurcations: where is the plaque really located? Circ Cardiovasc Interv 2010 1.19
18 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet 2011 1.17
19 Decreased expression of hypothalamic neuropeptides in Huntington disease transgenic mice with expanded polyglutamine-EGFP fluorescent aggregates. J Neurochem 2005 1.16
20 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet 2012 1.16
21 Mutant Huntingtin reduces HSP70 expression through the sequestration of NF-Y transcription factor. EMBO J 2008 1.14
22 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics 2012 1.13
23 Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 2012 1.11
24 Early high-dose intravenous methylprednisolone is effective in preserving retinal nerve fiber layer thickness in patients with neuromyelitis optica. Graefes Arch Clin Exp Ophthalmol 2010 1.11
25 Spinal cord decompression sickness associated with scuba diving: correlation of immediate and delayed magnetic resonance imaging findings with severity of neurologic impairment--a report on 3 cases. Surg Neurol 2006 1.09
26 Dll4-selective Notch signaling induces ephrinB2 gene expression in endothelial cells. Biochem Biophys Res Commun 2006 1.09
27 Notch induces myofibroblast differentiation of alveolar epithelial cells via transforming growth factor-{beta}-Smad3 pathway. Am J Respir Cell Mol Biol 2011 1.07
28 Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet A 2011 1.07
29 Comparison of angiographic and intravascular ultrasonic detection of myocardial bridging of the left anterior descending coronary artery. Am J Cardiol 2008 1.07
30 Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat 2013 1.06
31 Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. J Med Genet 2011 1.02
32 Notch signaling induces osteogenic differentiation and mineralization of vascular smooth muscle cells: role of Msx2 gene induction via Notch-RBP-Jk signaling. Arterioscler Thromb Vasc Biol 2009 0.99
33 Spontaneous regression of herniated cervical disc. Spine J 2003 0.98
34 SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 2010 0.97
35 Spondylodiscitis: diagnosis and treatment. Surg Neurol 2005 0.95
36 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 2012 0.94
37 Progression of visual field defects in eyes with different optic disc appearances in patients with normal tension glaucoma. J Glaucoma 2012 0.92
38 Effects on immune response of antidiabetic ingredients from white-skinned sweet potato (Ipomoea batatas L.). Nutrition 2005 0.92
39 De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy. Am J Med Genet A 2011 0.90
40 Impact of myocardial bridge on clinical outcome after coronary stent placement. Am J Cardiol 2009 0.89
41 Correlation between peripapillary macular fiber layer thickness and visual acuity in patients with open-angle glaucoma. Clin Ophthalmol 2010 0.89
42 Human T-lymphotropic virus type-I infection, survival and cancer risk in southwestern Japan: a prospective cohort study. Cancer Causes Control 2003 0.89
43 Treatment of spontaneous intracranial hypotension secondary to C-2 meningeal cyst by surgical packing--case report. Neurol Med Chir (Tokyo) 2004 0.88
44 Proteomics of polyglutamine aggregates. Methods Enzymol 2006 0.88
45 A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet 2012 0.88
46 Intravascular ultrasound comparison of the retrograde versus antegrade approach to percutaneous intervention for chronic total coronary occlusions. JACC Cardiovasc Interv 2009 0.87
47 Feasibility of modified short-course radiotherapy combined with a chemoradiosensitizer for T3 rectal cancer. Dis Colon Rectum 2015 0.87
48 Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. J Hum Genet 2010 0.86
49 A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev 2011 0.84
50 Mother-to-child transmission of human T-cell lymphotropic virus type 1. Pediatr Infect Dis J 2013 0.84
51 Enhancement of J-ST-segment elevation by the glucose and insulin test in Brugada syndrome. Pacing Clin Electrophysiol 2003 0.84
52 Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Am J Med Genet A 2013 0.84
53 A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty. Am J Med Genet A 2011 0.83
54 A huge presacral Tarlov cyst. Case report. J Neurosurg Spine 2007 0.83
55 The timing of surgery after preoperative short-course S-1 chemoradiotherapy with delayed surgery for T3 lower rectal cancer. Int J Colorectal Dis 2014 0.82
56 [Three cases of cervical epidural hematoma mimicking acute ischemic stroke]. Brain Nerve 2009 0.82
57 Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing. Mol Vis 2013 0.82
58 Correlation of magnetic resonance imaging optic nerve parameters to optical coherence tomography and the visual field in glaucoma. Clin Experiment Ophthalmol 2013 0.81
59 Cyst of the ligamentum flavum--case report. Neurol Med Chir (Tokyo) 2005 0.81
60 Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. J Hum Genet 2012 0.81
61 Three-dimensional radiochromic film dosimetry for volumetric modulated arc therapy using a spiral water phantom. J Radiat Res 2013 0.81
62 Radioprotection and cell cycle arrest of intestinal epithelial cells by darinaparsin, a tumor radiosensitizer. Int J Radiat Oncol Biol Phys 2013 0.81
63 Arterial chemoradiotherapy for carcinomas of the external auditory canal and middle ear. Laryngoscope 2014 0.80
64 Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Hum Genet 2011 0.80
65 Runx2/Smad3 complex negatively regulates TGF-β-induced connective tissue growth factor gene expression in vascular smooth muscle cells. J Atheroscler Thromb 2011 0.80
66 Inhibition of ocular angiogenesis by an adenovirus carrying the human von Hippel-Lindau tumor-suppressor gene in vivo. Invest Ophthalmol Vis Sci 2004 0.80
67 A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Intern Med 2012 0.79
68 A nested case-control study of risk factors for adult T-cell leukemia/lymphoma among human T-cell lymphotropic virus type-I carriers in Japan. Cancer Causes Control 2002 0.79
69 Dosimetric and delivery characterizations of full-arc and half-arc volumetric-modulated arc therapy for maxillary cancer. J Radiat Res 2012 0.78
70 Prostaglandin F2alpha inhibits SERCA2 gene transcription through an induction of Egr-1 in cultured neonatal rat cardiac myocytes. Int Heart J 2008 0.78
71 De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis. J Hum Genet 2011 0.78
72 [Impact of planning CT slice thickness on the accuracy of automatic target registration using the on-board cone-beam CT]. Igaku Butsuri 2011 0.77
73 Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion. J Appl Genet 2005 0.77
74 NGF-induced neurite outgrowth of PC12 cells in the presence of phosphatidylcholine hydroperoxides: Implication for ageing. Mech Ageing Dev 2008 0.77
75 Triamcinolone acetonide suppresses interleukin-1 beta-mediated increase in vascular endothelial growth factor expression in cultured rat Müller cells. Graefes Arch Clin Exp Ophthalmol 2005 0.77
76 Visible light exposure induces VEGF gene expression through activation of retinoic acid receptor-alpha in retinoblastoma Y79 cells. Am J Physiol Cell Physiol 2004 0.76
77 Geographic distribution of the incidence of adult T-cell leukemia/lymphoma and other malignancies in nagasaki prefecture, Japan. Jpn J Clin Oncol 2002 0.75
78 Diagnosis and surgical strategy for sacral meningeal cysts with check-valve mechanism: technical note. Acta Neurochir (Wien) 2012 0.75
79 Microtubule formation and activities of antioxidative enzymes in PC12 cells exposed to phosphatidylcholine hydroperoxides. Int J Mol Sci 2012 0.75
80 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet 2015 0.75
81 [Serial assessment of delayed encephalopathy after carbon monoxide poisoning using magnetic resonance imaging]. Chudoku Kenkyu 2012 0.75
82 Serial intravascular ultrasound analysis of the impact of myocardial bridge on neointimal proliferation after coronary stenting in patients with acute myocardial infarction. J Interv Cardiol 2010 0.75
83 Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation. Acta Neuropathol 2013 0.75
84 [A case of spinocerebellar ataxia type 2 presenting with a clinical course similar to spastic paraparesis]. Rinsho Shinkeigaku 2010 0.75
85 Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome. Tohoku J Exp Med 2013 0.75
86 [A case of extensive Fournier's gangrene]. Hinyokika Kiyo 2002 0.75
87 [Personal genome analysis in amyotrophic lateral sclerosis]. Brain Nerve 2013 0.75
88 [Huntington disease]. Nihon Rinsho 2004 0.75
89 Autosomal recessive spinocerebellar ataxias in Japan. Rinsho Shinkeigaku 2016 0.75
90 [A case of renal cell carcinoma in a horseshoe kidney]. Hinyokika Kiyo 2002 0.75
91 Fulminant pneumonia caused by nontypable haemophilus influenzae. Intern Med 2012 0.75
92 A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. Mov Disord 2013 0.75
93 [A clinical analysis of patients with early-stage prostate cancer managed without initial treatment]. Hinyokika Kiyo 2002 0.75
94 Is accurate intravascular ultrasound evaluation of the left circumflex ostium from a left anterior descending to left main pullback possible? Am J Cardiol 2010 0.75
95 [Voltage-gated potassium channel antibodies, voltage-gated calcium channel antibodies]. Nihon Rinsho 2010 0.75
96 [A case of adrenal cortical carcinoma]. Hinyokika Kiyo 2002 0.75