PubRank

Seiichi Tsujino

Author PubWeight™ 13.44‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. J Neurol 2011 1.29
2 Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. Pediatr Neurol 2008 0.99
3 A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev 2003 0.98
4 CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve 2002 0.90
5 Benign course of glycogen storage disease type IIb in two brothers: nature or nurture? Muscle Nerve 2006 0.87
6 Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. J Neurol Sci 2004 0.86
7 A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis. Brain Dev 2007 0.85
8 New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol 2003 0.83
9 Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. J Hum Genet 2011 0.82
10 A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. Brain Dev 2006 0.80
11 An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. Brain Dev 2005 0.80
12 Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase". J Hum Genet 2007 0.80
13 Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol 2003 0.80
14 [A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis]. No To Hattatsu 2005 0.78
15 A novel mutation, P126R, in a Japanese patient with HHH syndrome. Pediatr Neurol 2002 0.77
16 MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease. Brain Dev 2006 0.77
17 [Metabolic disorder of carbohydrate]. Ryoikibetsu Shokogun Shirizu 2002 0.75
18 A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. Brain Dev 2004 0.75
19 [Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 0.75
20 Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev 2003 0.75