PubRank

Nobuyuki Murakami

Author PubWeight™ 20.28‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet 2012 0.95
2 Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Am J Med Genet A 2013 0.92
3 Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet 2011 0.92
4 Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R? Am J Med Genet 2002 0.87
5 Idiopathic hypereosinophilic syndrome complicated by central sinovenous thrombosis. Brain Dev 2006 0.87
6 Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation. Pediatr Neurol 2002 0.85
7 Effects of 5 years growth hormone treatment in patients with Prader-Willi syndrome. J Pediatr Endocrinol Metab 2003 0.84
8 An autopsy case of lymphomatosis cerebri showing pathological changes of intravascular large B-cell lymphoma in visceral organs. Neuropathology 2011 0.83
9 Two novel CAV3 gene mutations in Japanese families. Neuromuscul Disord 2004 0.83
10 Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome. Am J Med Genet A 2012 0.82
11 Effects of turmeric on Alzheimer's disease with behavioral and psychological symptoms of dementia. Ayu 2012 0.82
12 Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report. J Med Case Rep 2013 0.81
13 Epilepsy and West syndrome in neonates with hypoxic-ischemic encephalopathy. Pediatr Int 2014 0.80
14 An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein. Neuropathology 2009 0.80
15 Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome. J Orthop Sci 2014 0.80
16 Diagnostic significance of membrane attack complex and vitronectin in childhood dermatomyositis. J Child Neurol 2005 0.80
17 Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader-Willi syndrome. Am J Med Genet A 2014 0.79
18 [Surveillance study on use of over-the-counter drug and health food by school pharmacist for grade-schooler, junior high school student, and high school students]. Yakugaku Zasshi 2011 0.79
19 Characterization of fat distribution in Prader-Willi syndrome: relationships with adipocytokines and influence of growth hormone treatment. Am J Med Genet A 2012 0.79
20 Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study. Am J Med Genet A 2013 0.78
21 Bromocriptine treatment of prolactinoma restores growth hormone secretion and causes catch-up growth in a prepubertal child. Eur J Pediatr 2004 0.78
22 Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: a comparison between maternal uniparental disomy and deletion cases. Am J Med Genet A 2014 0.77
23 Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion. Am J Med Genet A 2013 0.77
24 [Three cases of Fanconi syndrome associated with valproate sodium treatment]. No To Hattatsu 2011 0.77
25 Evaluating the frequency and characteristics of seizures in 142 Japanese patients with Prader-Willi syndrome. Am J Med Genet A 2013 0.76
26 QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype. Am J Med Genet A 2014 0.75
27 [Surveillance study on the needs for self-medication of local residents and community pharmacists in Fukuyama]. Yakugaku Zasshi 2011 0.75
28 Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47. J Anesth 2009 0.75
29 The characteristics of scoliosis in Prader-Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS. J Orthop Sci 2014 0.75
30 [Anxiety in school refusal children with indefinite complaints: psychological estimation using State-Trait Anxiety Inventory and therapy by serotonin reuptake inhibitors]. No To Hattatsu 2003 0.75
31 [A case of X-linked myotubular myopathy with chylothorax]. No To Hattatsu 2016 0.75
32 [Successful outcome of VP shunt operation in 3 cases of idiopathic normal pressure hydrocephalus with long duration of illness]. Rinsho Shinkeigaku 2006 0.75
33 Characterization of diabetes mellitus in Japanese prader-willi syndrome. Clin Pediatr Endocrinol 2011 0.75