PubRank

Kenji Sugai

Author PubWeight™ 62.12‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013 4.71
2 Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol 2007 1.58
3 Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children. Brain Dev 2009 1.42
4 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013 1.35
5 Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population. Hum Mutat 2004 1.03
6 Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood. Epilepsy Res 2010 1.00
7 MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Brain Dev 2012 0.98
8 Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. Am J Med Genet A 2004 0.96
9 Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord 2011 0.95
10 Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. Neuroradiology 2009 0.95
11 Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy. Epilepsy Behav 2013 0.92
12 Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood. Brain Dev 2013 0.92
13 Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. Dev Med Child Neurol 2011 0.92
14 Bromoderma in a patient with migrating partial seizures in infancy. Epilepsy Res 2010 0.92
15 A nationwide survey on Marinesco-Sjögren syndrome in Japan. Orphanet J Rare Dis 2014 0.91
16 Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy. Epilepsia 2009 0.90
17 Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry 2013 0.88
18 Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. Brain Dev 2011 0.88
19 Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population. Drug Metab Pharmacokinet 2005 0.88
20 Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients. Eur J Clin Pharmacol 2005 0.87
21 Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Brain Dev 2008 0.87
22 Delayed maturation and differentiation of neurons in focal cortical dysplasia with the transmantle sign: analysis of layer-specific marker expression. J Neuropathol Exp Neurol 2012 0.87
23 Augmented startle responses in opsoclonus-myoclonus syndrome. Brain Dev 2010 0.86
24 Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies. Epilepsia 2008 0.85
25 Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection. Brain Dev 2010 0.85
26 Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly. Brain Res 2012 0.84
27 Functional characterization of five novel CYP2C8 variants, G171S, R186X, R186G, K247R, and K383N, found in a Japanese population. Drug Metab Dispos 2005 0.84
28 Surgical management of cortical dysplasia in infancy and early childhood. Brain Dev 2013 0.84
29 Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly. Brain Dev 2009 0.83
30 Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy. J Neurol Sci 2009 0.82
31 Hemifacial seizures due to ganglioglioma of cerebellum. Brain Dev 2009 0.82
32 Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations. Drug Metab Pharmacokinet 2002 0.82
33 Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. J Hum Genet 2006 0.82
34 Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. Neuromuscul Disord 2011 0.82
35 Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. Brain Dev 2012 0.82
36 A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein. JIMD Rep 2013 0.82
37 Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis. Brain Dev 2009 0.81
38 Intentional reim plantation of a tooth with severe periodontal involvement using enamel matrix derivative in combination with guided tissue regeneration and bone grafting: a case report. Int J Periodontics Restorative Dent 2008 0.81
39 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. Am J Med Genet A 2015 0.81
40 [Recurrent fever related to dantrolene sodium in a girl with sequelae of acute encephalopathy]. No To Hattatsu 2007 0.81
41 Acute nonparaneoplastic limbic encephalitis in childhood: a case series in Japan. Pediatr Neurol 2010 0.80
42 Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus. Epilepsy Res 2009 0.80
43 Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy. Brain Dev 2010 0.80
44 CYP2C8 haplotype structures and their influence on pharmacokinetics of paclitaxel in a Japanese population. Pharmacogenet Genomics 2007 0.80
45 Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy. Brain Dev 2012 0.79
46 [Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy]. No To Hattatsu 2010 0.79
47 A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord 2012 0.79
48 Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring variant enzymes. J Pharmacol Exp Ther 2003 0.79
49 [Effect of neurotropin on chronic headaches in children]. No To Hattatsu 2012 0.78
50 CD4+ CD25(high) regulatory T cell in childhood ocular myasthenia gravis. Brain Dev 2010 0.78
51 Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy. Epilepsy Res 2011 0.78
52 SISCOM technique with a variable Z score improves detectability of focal cortical dysplasia: a comparative study with MRI. Ann Nucl Med 2012 0.78
53 Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination. Brain Dev 2010 0.78
54 Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma. Childs Nerv Syst 2010 0.78
55 Focal cortical myoclonus in rolandic cortical dysplasia presenting as hemifacial twitching. Brain Dev 2012 0.78
56 Effect of corpus callosotomy on attention deficit and behavioral problems in pediatric patients with intractable epilepsy. Epilepsy Behav 2011 0.78
57 Effectiveness of lidocaine infusion for status epilepticus in childhood: a retrospective multi-institutional study in Japan. Brain Dev 2008 0.78
58 Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. J Neurol 2012 0.78
59 Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: a pilot study. Brain Dev 2010 0.77
60 A case of bulbar type cerebral palsy: representative symptoms of dorsal brainstem syndrome. Brain Dev 2012 0.77
61 Unusual exocrine complication of pancreatitis in mitochondrial disease. Brain Dev 2012 0.77
62 Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria. Brain Dev 2006 0.77
63 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. Seizure 2012 0.77
64 Twenty-six novel single nucleotide polymorphisms and their frequencies of the NR1I3 (CAR) gene in a Japanese population. Drug Metab Pharmacokinet 2003 0.77
65 Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. Brain Dev 2010 0.77
66 Posterior disconnection in early infancy to treat intractable epilepsy with multilobar cortical dysplasia: three case report. Neurol Med Chir (Tokyo) 2013 0.77
67 Treatment of epilepsy in severely disabled children with bilateral brain malformations. J Neurol Sci 2008 0.77
68 Complex behavioral automatism arising from insular cortex. Epilepsy Behav 2005 0.76
69 Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. Pediatr Neurol 2002 0.76
70 High gamma activity of 60-70 Hz in the area surrounding a cortical tuber in an infant with tuberous sclerosis. Ital J Pediatr 2012 0.76
71 Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy. J Neuropathol Exp Neurol 2014 0.76
72 Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation. J Neurol Sci 2011 0.75
73 Clinical aspects of hemimegalencephaly by means of a nationwide survey. J Child Neurol 2005 0.75
74 Hyperkinetic movement disorder in a child treated by globus pallidus stimulation. Brain Dev 2008 0.75
75 [Pleural effusion associated with long-term dantrolene administration in three patients with severe motor and intellectual disabilities]. No To Hattatsu 2006 0.75
76 Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscul Disord 2009 0.75
77 [Practical seminar on the present status and problems of compensation system for birth troubles]. No To Hattatsu 2014 0.75
78 [A case of neurocutaneous melanosis associated with focal cortical dysplasia]. No To Hattatsu 2011 0.75
79 [Establishment of a brain perfusion single photon emission computed tomography database in children by statistical imaging analysis]. No To Hattatsu 2005 0.75
80 [A patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS) and cerebral infarction]. No To Hattatsu 2007 0.75
81 [Three cases with severe motor and intellectual disabilities presenting the severest condition caused by prolonged non-convulsive status epilepticus]. No To Hattatsu 2003 0.75
82 [Serial median nerve SEPs and SSEPs in patients with West syndrome]. No To Hattatsu 2004 0.75
83 [A case of hemimegalencephaly with slowly progressive expansion]. No To Hattatsu 2007 0.75
84 Novel pathological abnormalities of deep brain structures including dysplastic neurons in anterior striatum associated with focal cortical dysplasia in epilepsy. J Neurosurg Pediatr 2012 0.75
85 [Case of 12-year-old boy with idiopathic recurrent neuralgic amyotrophy]. No To Hattatsu 2006 0.75
86 Therapeutic effect and [123I]IMP SPECT findings of sodium dichloroacetate in a patient with MELAS. Neurology 2004 0.75
87 [The parents' assessment and needs for home mechanical ventilation in patients with pediatric neurological disorders]. No To Hattatsu 2003 0.75
88 [A six year-old case of narcolepsy]. No To Hattatsu 2003 0.75
89 Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase. Drug Metab Pharmacokinet 2003 0.75
90 Repeat magnetoencephalography and surgeries to eliminate atonic seizures of non-lesional frontal lobe epilepsy. Epilepsy Res 2009 0.75
91 Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability: coexistence of auditory neuropathy and cochlear hearing loss. Brain Dev 2005 0.75
92 [Delineation of the anatomical relationship of innominate artery and trachea by respiratory-gated MR imaging with true FISP sequence in patients with severe motor and intellectual disabilities]. No To Hattatsu 2008 0.75
93 [Adverse effects of dichloroacetate in a girl with mitochondrial disorder]. No To Hattatsu 2003 0.75
94 Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. J Neurol 2012 0.75
95 [Two boys with non-progressive unilateral atrophy of the calf muscles]. No To Hattatsu 2006 0.75
96 [Serious complications of intraventricular interferon-alpha and ribavirin in the treatment of subacute sclerosing panencephalitis]. No To Hattatsu 2009 0.75
97 [A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder]. No To Hattatsu 2007 0.75
98 [Migrating partial seizures in infancy]. Ryoikibetsu Shokogun Shirizu 2002 0.75
99 [Cerebral subcortical hemorrhage in a case of neurofibromatosis type 1]. No To Hattatsu 2013 0.75
100 Clinical analysis of catastrophic epilepsy in infancy and early childhood: results of the Far-East Asia Catastrophic Epilepsy (FACE) study group. Brain Dev 2013 0.75
101 Progressive leukoencephalopathy associated with aluminum deposits in myelin sheath. J Child Neurol 2008 0.75
102 [Non-intravenous high-dose phenobarbital therapy for status epilepticus refractory to continuous infusion of midazolam or pentobarbital: report of three cases]. No To Hattatsu 2002 0.75
103 A case of congenital axonal neuropathy associated with West syndrome. Brain Dev 2011 0.75
104 Congenital monomelic neurogenic disorder with calf muscle hypertrophy. Brain Dev 2003 0.75
105 [Three cases of benign myoclonus of early infancy]. No To Hattatsu 2003 0.75
106 Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms. Brain Dev 2009 0.75
107 [Continuous midazolam infusion for refractory nonconvulsive status epilepticus in children]. No To Hattatsu 2005 0.75
108 [Two patients with congenital insensitivity to pain with anhidrosis showing marked prolongation of central conduction time in short latency somatosensory evoked potential]. No To Hattatsu 2009 0.75
109 [Three infantile cases of temporal lobe epilepsy presenting as apnea]. No To Hattatsu 2008 0.75
110 A pediatric patient with myopathy associated with antibodies to a signal recognition particle. Brain Dev 2012 0.75
111 Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies. Brain Dev 2011 0.75
112 Electrophysiological evidence of cerebral dysfunction in childhood opsoclonus-myoclonus syndrome. Mov Disord 2010 0.75
113 Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev 2003 0.75
114 Anterior striatum with dysmorphic neurons associated with the epileptogenesis of focal cortical dysplasia. Seizure 2010 0.75
115 [Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance]. No To Hattatsu 2012 0.75