PubRank

Kazuhiro Yamakawa

Author PubWeight™ 66.82‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 2007 4.34
2 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003 2.44
3 A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004 2.31
4 Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. Epilepsia 2014 1.99
5 Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004 1.98
6 Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet 2002 1.73
7 Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet 2004 1.57
8 Valacyclovir and prednisolone treatment for Bell's palsy: a multicenter, randomized, placebo-controlled study. Otol Neurotol 2007 1.48
9 A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy. Neurobiol Dis 2006 1.45
10 Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 2003 1.42
11 Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet 2013 1.32
12 Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet 2006 1.20
13 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol 2005 1.12
14 The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophys Res Commun 2004 1.12
15 Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. Hum Mol Genet 2007 1.11
16 Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet 2009 1.07
17 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet 2002 1.05
18 DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death. J Neurosci 2009 1.04
19 Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat 2007 1.03
20 Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet 2002 1.02
21 Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav 2013 1.01
22 A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. Epilepsia 2012 1.01
23 Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease. J Biol Chem 2009 1.00
24 SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 2006 0.99
25 Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. Cereb Cortex 2009 0.99
26 Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLoS One 2013 0.96
27 Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. Hum Mol Genet 2011 0.94
28 Seizure phenotypes of a family with missense mutations in SCN2A. Pediatr Neurol 2004 0.93
29 Genetics of epilepsy: current status and perspectives. Neurosci Res 2002 0.91
30 Alternative splicing modulates subcellular localization of laforin. Biochem Biophys Res Commun 2002 0.91
31 The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum Mol Genet 2003 0.91
32 The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet 2002 0.90
33 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res 2007 0.90
34 Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. J Hum Genet 2005 0.88
35 Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophys Res Commun 2007 0.87
36 Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat 2010 0.87
37 Bumetanide-induced enlargement of the intercellular space in the stria vascularis critically depends on Na+ transport. Hear Res 2003 0.86
38 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev 2005 0.86
39 Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. Epilepsia 2010 0.85
40 Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals. Biol Open 2012 0.85
41 Genetic abnormalities underlying familial epilepsy syndromes. Brain Dev 2002 0.85
42 Cell-type specific roles for PTEN in establishing a functional retinal architecture. PLoS One 2012 0.84
43 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. Cell Calcium 2012 0.84
44 Increased lipid peroxidation in Down's syndrome mouse models. J Neurochem 2009 0.84
45 Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. Neurosci Lett 2006 0.83
46 Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. Epilepsy Res 2002 0.82
47 Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder. Psychiatr Genet 2008 0.82
48 Bumetanide-induced enlargement of the intercellular space in the stria vascularis requires an active Na+-K+-ATPase. Acta Otolaryngol 2002 0.82
49 DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. Epilepsia 2009 0.81
50 Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects. Epilepsia 2012 0.81
51 Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia. Am J Med Genet 2002 0.81
52 Time course of dehydrating effects of isosorbide on experimentally induced endolymphatic hydrops in guinea pigs. ORL J Otorhinolaryngol Relat Spec 2004 0.79
53 Recent developments in the quest for myoclonic epilepsy genes. Epilepsia 2003 0.79
54 Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome. Epilepsia 2012 0.79
55 Decreased mucin concentrations in tear fluids of contact lens wearers. J Pharm Biomed Anal 2005 0.78
56 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. Epilepsy Res 2005 0.78
57 Math1, retinoic acid, and TNF-α synergistically promote the differentiation of mucous cells in mouse middle ear epithelial cells in vitro. Pediatr Res 2013 0.78
58 Protective effects of edaravone against ischemia-induced facial palsy. Auris Nasus Larynx 2007 0.78
59 Effect of chronic hemoplasma infection on cattle productivity. J Vet Med Sci 2013 0.77
60 Central respiratory failure in a mouse model depends on the genetic background of the host. Adv Exp Med Biol 2010 0.76
61 Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice. Exp Neurol 2012 0.76
62 In response to terminology and prognosis of Dravet syndrome. Epilepsia 2014 0.75
63 A totally implanted intra-arterial chemotherapy system for advanced maxillary sinus carcinoma. ORL J Otorhinolaryngol Relat Spec 2010 0.75
64 Stimulus-induced behavior in F1 hybrids of seizure-sensitive and seizure-resistant gerbils. Zoolog Sci 2003 0.75
65 Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins. Neurosci Lett 2005 0.75
66 Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. Pediatr Neurol 2008 0.75
67 Early assessment of nerve degeneration using the antidromic facial nerve response. ORL J Otorhinolaryngol Relat Spec 2010 0.75
68 Loss of pre-inspiratory neuron synchroneity in mice with DSCAM deficiency. Adv Exp Med Biol 2010 0.75
69 [Neurinoma of tympanic plexus: a case report]. Nihon Jibiinkoka Gakkai Kaiho 2002 0.75
70 Electrocochleographic findings in cases of autoimmune disease with sensorineural deafness. Auris Nasus Larynx 2003 0.75
71 Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report. J Child Neurol 2009 0.75
72 Initial lesions in Bell's palsy and Ramsay-Hunt syndrome. ORL J Otorhinolaryngol Relat Spec 2010 0.75