PubRank

Kazuhiro Haginoya

Author PubWeight™ 49.20‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 2009 3.05
2 Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku J Exp Med 2006 2.56
3 Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab 2007 1.75
4 Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol 2007 1.58
5 Somatotopic distribution of peri-rolandic spikes may predict prognosis in pediatric-onset epilepsy with sensorimotor seizures. Clin Neurophysiol 2010 1.48
6 Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia. Dev Med Child Neurol 2012 1.41
7 Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 2010 1.35
8 A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. Hum Genet 2006 1.30
9 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013 1.19
10 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet 2011 1.17
11 Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 2012 1.11
12 Platelet-derived growth factor and its receptors are related to the progression of human muscular dystrophy: an immunohistochemical study. J Pathol 2003 1.01
13 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat 2013 0.98
14 Connective tissue growth factor is overexpressed in muscles of human muscular dystrophy. J Neurol Sci 2007 0.97
15 Intramuscular renin-angiotensin system is activated in human muscular dystrophy. J Neurol Sci 2009 0.90
16 The nutrient formula containing eicosapentaenoic acid and docosahexaenoic acid benefits the fatty acid status of patients receiving long-term enteral nutrition. Tohoku J Exp Med 2009 0.89
17 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet 2015 0.87
18 Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat 2010 0.87
19 Complete remission of seizures after corpus callosotomy. J Neurosurg Pediatr 2012 0.86
20 Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. Epilepsia 2010 0.85
21 A preliminary analysis of trace elements in the scalp hair of patients with severe motor disabilities receiving enteral nutrition. Brain Dev 2006 0.84
22 The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku J Exp Med 2007 0.83
23 Efficacy of sumatriptan in two pediatric cases with abdominal pain-related functional gastrointestinal disorders: does the mechanism overlap that of migraine? J Child Neurol 2009 0.83
24 Sensorimotor seizures of pediatric onset with unusual posteriorly oriented rolandic spikes. Epilepsy Res 2009 0.83
25 Olfactory stimulation using black pepper oil facilitates oral feeding in pediatric patients receiving long-term enteral nutrition. Tohoku J Exp Med 2008 0.82
26 Morphofunctional organization in three patients with unilateral polymicrogyria: combined use of diffusion tensor imaging and functional magnetic resonance imaging. Brain Dev 2006 0.81
27 Utility of subtraction ictal SPECT images in detecting focal leading activity and understanding the pathophysiology of spasms in patients with West syndrome. Epilepsy Res 2008 0.81
28 A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract. J Neurol Sci 2010 0.81
29 Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly. Epilepsy Res 2010 0.80
30 Abdominal migraine associated with ecchymosis of the legs and buttocks: does the symptom imply an unknown mechanism of migraine? Tohoku J Exp Med 2010 0.80
31 The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. Brain Dev 2005 0.79
32 Elevated plasma levels of tissue inhibitors of metalloproteinase-1 and their overexpression in muscle in human and mouse muscular dystrophy. J Neurol Sci 2010 0.79
33 Dynamic cortical activity during spasms in three patients with West syndrome: a multichannel near-infrared spectroscopic topography study. Epilepsia 2004 0.79
34 Acute dysautonomia: complete recovery after two courses of IVIg. Brain Dev 2004 0.78
35 Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome. J Child Neurol 2009 0.78
36 Clinical efficacy of zonisamide in childhood epilepsy after long-term treatment: a postmarketing, multi-institutional survey. Seizure 2004 0.78
37 Beta-phenylethylamine inhibits K+ currents in neocortical neurons of the rat: a possible mechanism of beta-phenylethylamine-induced seizures. Tohoku J Exp Med 2008 0.78
38 Effectiveness of lidocaine infusion for status epilepticus in childhood: a retrospective multi-institutional study in Japan. Brain Dev 2008 0.78
39 Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene. Pediatr Int 2011 0.78
40 Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. J Neurol Sci 2011 0.77
41 A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. Neuromuscul Disord 2006 0.77
42 Neonatal-onset brainstem reticular reflex myoclonus following a prenatal brain insult: generalized myoclonic jerk and a brainstem lesion. Tohoku J Exp Med 2007 0.77
43 Lateralization of interictal spikes after corpus callosotomy. Clin Neurophysiol 2011 0.77
44 Reduced exposure to mercury in patients receiving enteral nutrition. Tohoku J Exp Med 2006 0.76
45 Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. Epilepsy Res 2009 0.76
46 Two successful cases of bromide therapy for refractory symptomatic localization-related epilepsy. Brain Dev 2002 0.76
47 [Treatment with fluvoxamine against self-injury and aggressive behavior in autistic children]. No To Hattatsu 2002 0.76
48 Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study. J Child Neurol 2009 0.76
49 Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. Epilepsia 2009 0.76
50 Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. Brain Dev 2011 0.75
51 Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations. Am J Med Genet A 2012 0.75
52 The first infant case with hepatosplenic gammadelta T-cell lymphoma after acute disseminated encephalomyelitis (ADEM)-like exacerbation. J Pediatr Hematol Oncol 2006 0.75
53 [Improvement of action myoclonus in a patient with dentatorubral-pallidoluysian atrophy by piracetam]. No To Hattatsu 2004 0.75
54 Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl. Am J Med Genet A 2012 0.75
55 A case of atypical benign partial epilepsy with action myoclonus. Seizure 2012 0.75
56 Ketotifen overdose in infancy associated with development of epilepsy and mild mental retardation. Pediatr Int 2012 0.75
57 [Epidemiological and clinical studies of West syndrome in Miyagi Prefecture, Japan]. No To Hattatsu 2007 0.75
58 [Waiting-for-Instruction behavior as depressive symptom in mentally retarded autistic children and adolescents and its treatment]. No To Hattatsu 2009 0.75
59 Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy. Seizure 2013 0.75
60 Metabolic properties of band heterotopia differ from those of other cortical dysplasias: a proton magnetic resonance spectroscopy study. Epilepsia 2003 0.75
61 Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report. J Child Neurol 2009 0.75
62 [A five-year-old girl with epilepsy showing forced normalization due to zonisamide]. No To Hattatsu 2003 0.75
63 [A case of bipolar I disorder with autistic disorder showing "waiting-for-instruction" as a depressive symptom]. No To Hattatsu 2010 0.75
64 Reduction in glutamine/glutamate levels in the cerebral cortex after adrenocorticotropic hormone therapy in patients with west syndrome. Tohoku J Exp Med 2014 0.75
65 [Case of a pharyngeal-cervical-brachial variant of Guillain-Barré syndrome without pharyngeal palsy]. No To Hattatsu 2011 0.75
66 Successful treatment of a 2-year-old girl with intractable myasthenia gravis using tacrolimus. Brain Dev 2006 0.75
67 [Meet the experts: therapy of myasthenia gravis in childhood]. No To Hattatsu 2016 0.75
68 A female case of West syndrome with remission of spasms following multiple cerebral hemorrhages. Brain Dev 2010 0.75
69 [Conduct disorders in patients with developmental disabilities]. No To Hattatsu 2009 0.75
70 Restless legs syndrome: a unique case of relapse after traffic accidents with a long remission. Sleep Med 2010 0.75
71 [Clinical features of Japanese pediatric patients with anti-aquaporin 4 antibody]. No To Hattatsu 2011 0.75