研究論文

 研究    

研究論文業績

医学雑誌 総説

Kono S:Aceruloplasminemia, Curr Drug Targets, 13(9):1190-9, 2012.

Kono S. Aceruloplasminemia: an update. Int Rev Neurobiol. 2013;110:125-51.

河野智 中枢神経における鉄代謝 神経内科 第79巻第4号 424-434 (201310月)

河野智白川健太郎宮嶋裕明特集 I. Vitamin B1と神経疾患;Wernicke様脳症(thiamine transporter gene mutation神経内科 第76巻第3号 248-25420123月)

河野智、宮嶋裕明:無セルロプラスミン血症、神経内科 73巻2号2010

 

研究論文 

浜松医大神経内科教室にて世界で初めて発見した遺伝性神経代謝疾患の研究

Kono S*, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H: Mutations in a thiamine-transporter gene and Wernicke’s-like encephalopathy. NEJM 360(17):1792-1793, 2009. [IF 51.658]

Kono S*, Suzuki H, Takahashi K, Takahashi1 Y, Shirakawa K, Murakawa Y, Yamaguchi S, Miyajima H. Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. Gastroenterology. 2006;131:240-245. [IF12.821]

Kono S*, Suzuki H, Oda T, Shirakawa K, Takahashi Y, Kitagawa M, Miyajima H. Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. J Hepatol 47(6): 844-850, 2007. [IF 9.858]

Kono S*, Yoshida K, Tomosugi N, Terada T, Hamaya Y, Kanaoka S, Miyajima H. Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin. Biochim Biophys Acta. - Molecular Basis of Disease. 2010 Nov;1802(11):968-75. [IF 4.910]

Kono S*, Suzuki H, Oda T, Miyajima H, Takahashi Y, Shirakawa K, Ishikawa K, Kitagawa M. Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. NeuroMol Med. 2006;8:361-373. [IF4.492]

Hellman NE, Kono S, Mancini GM, Hoogeboom AJ, De Jong GJ, Gitlin JD*. Mechanisms of copper incorporation into human ceruloplasmin. J Biol Chem. 2002 Nov 29;277(48):46632-8. [IF 4.651]

Hellman NE, Kono S, Miyajima H, Gitlin JD* Biochemical analysis of a missense mutation in aceruloplasminemia. J Biol Chem. 2002 Jan 11;277(2):1375-80. [IF 4.651]

Fujita K, Osaki Y, Harada M, Kono S, Miyajima H, Izumi Y, Kaji R*.  Brain and liver iron accumulation in aceruloplasminemia.  Neurology. 2013 Dec 10;81(24):2145-6 [IF 8.249]

Kaneko Y, Miyajima H, Piperno A, Tomosugi N, Hayashi H, Morotomi N, Tsuchida K, Ikeda T, Ishikawa A, Ota Y, Wakusawa S, Yoshioka K, Kono S, Pelucchi S, Hattori A, Tatsumi Y, Okada T, Yamagishi M.J* Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorder. J Gastroenterol. 2010 Nov;45(11):1163-71. [IF 3.788]

Miyajima H*, Takahashi Y, Kono S, Hishida A, Ishikawa K, Sakamoto M. Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. J Neurol. 2005 Aug;252(8):996-7. [IF 3.578]

Haemers I, Kono S, Goldman S, Gitlin JD, Pandolfo M*. Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia. J Neurol Neurosurg Psychiatry. 2004 Feb;75(2):334-7. [IF 4.924]

Kohno S*, Miyajima H, Takahashi Y, Suzuki H, Hishida A. Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. J Neurol Sci. 2000 Dec 15;182(1):57-60. [IF 2.243]

Miyajima H*, Kohno S, Takahashi Y, Yonekawa O, Kanno T. Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology. 1999 Aug 11;53(3):617-9. [IF 8.249]

Miyajima H*, Fujimoto M, Kohno S, Kaneko E, Gitlin JD. CSF abnormalities in patients with aceruloplasminemia. Neurology. 1998 Oct;51(4):1188-90. [IF 8.249]

Watanabe M, Asai C, Ishikawa K, Kiyota A, Terada T, Kono S, Miyajima H, Okumura A*. Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.W Intern Med. 2010;49(15):1581-5. [IF 0.973 ]

Tai M*, Matsuhashi N, Ichii O, Suzuki T, Ejiri Y, Kono S, Terada T, Miyajima H, Harada M. Case of presymptomatic aceruloplasminemia treated with deferasirox. Hepatol Res. 2013 Dec 16. [IF 2.072]

Kohno S*, Miyajima H, Takahashi Y, Inoue Y Aceruloplasminemia with a novel mutation associated with parkinsonism. Neurogenetics. 2000 Mar;2(4):237-8. [IF 3.575]

Takeuchi Y*, Yoshikawa M, Tsujino T, Kohno S, Tsukamoto N, Shiroi A, Kikuchi E, Fukui H, MiyajimaH. A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. J Neurol Neurosurg Psychiatry. 2002 Apr;72(4):543-5. [IF 4.924]

 

パーキンソン病の研究

Kono S*, Ouchi Y, Terada T, Ida H, Suzuki M, Miyajima H. Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism. Mov Disord. 2010 Sep 15;25(12):1823-9. [IF 4.558]

Kono S*, Shirakawa K, Ouchi Y, Sakamoto M, Ida H, Sugiura T, Tomiyama H, Suzuki H, Takahashi Y, Miyajima H, Hattori N, Mizuno Y. Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier. J Neurol Sci 252(2): 181-184, 2007. [IF 2.243]

 

PETを用いた神経疾患の研究

Kono S*, Terada T, Ouchi Y, Miyajima H: An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation. BBA-Clinical 2:56-61, 2014.

Kono S*, Ouchi Y, Terada T, Suzuki M, Yagi S, Miyajima H. Combined FDG and raclopride PET study in a case of ALS with the R521C FUS gene mutation. J Neurol. 2011 Jul 15. [IF 3.578]

Hosoi Y, Sakao M, Terada T, Konishi T, Ouchi Y, Miyajima H, Kono S*: GABA-A receptor impairment in cerebellar ataxia with anti-glutamic acid decarboxylase antibodies, J Neurol, 260(12), 3086-3092, 2013. [IF 3.578]

Konishi T, Kono S*, Fujimoto M, Terada T, Matsushita K, Ouchi Y, Miyajima H:Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation, J Neurol, 260(1):207-13, 2013. [IF 3.578]

Terada T, Kono S*, Ouchi Y, Yoshida K, Hamaya Y, Kanaoka S, Miyajima H. SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. Ann Nucl Med. 2013 Apr;27(3):303-8 [IF 1.410]

 

神経疾患の症例報告

Kono S*, Miyajima H, Sugimoto M, Suzuki Y, Takahashi Y, Hishida A. Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer. Intern Med. 2001 Sep;40(9):968-71. [IF 0.973]

Kono S*, Takashima H, Suzuki D, Terada T, Konishi T, Miyajima H: Orbital myositis associated with discoid lupus erythematosus, Lupus, 23(2), 220-222, 2014. [IF 2.783]

Kohno S*, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. Neurosci Lett. 1999 Dec 3;276(2):135-7. [IF2.026]

Kono S*, Bunai T, Terada T, Shimoyama K, Konishi T, Shirakawa K, Miyajima H. Subacute progressive ophthalmoplegia associated with dermatomyositis, J Neurol, 259(9):1982-1984, 2012.  [IF 3.578]

Kono S*, Otsuji A, Hattori H, Shirakawa K, Suzuki H, Miyajima H.Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene. J Neurol. 2009;256(7):1180-1. [IF 3.578]

Suzuki M*, Kawasaki H, Masaki K, Suzuki SO, Terada T, Tsuchida T, Tokuyama T, Kono S, Komori T, Baba S, Kira J, Miyajima H: An autopsy case of the Marburg variant of multiple sclerosis (acute multiple sclerosis), Intern Med, 52, 1825-1832, 2013.  [IF 0.973]

Hosoi Y, Kono S*, Terada T, Konishi T, Miyajima H: Hashimoto’s encephalopathy associated with an elevated intrathecal IgG4 level, J Neurol, 260(4), 1174-1176, 2013. [IF 3.578]

Shirakawa K, Suzuki H, Ito M, Kono S, Uchiyama T, Ohashi T, Miyajima H*. Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. Neurology. 2009 Dec 15;73(24):2124-6  [IF 8.249]

Arai Y*, Kohno S, Takahashi Y, Miyajima Y, Tsutusi Y Autopsy case of neuro-Behçet's disease with multifocal neutrophilic perivascular inflammation. Neuropathology. 2006 Dec;26(6):579-85. [IF 2.022]

Suzuki M*, Kosugi I, Terada T, Shirakawa K, Suzuki H, Kono S, Miyajima H. A case of Epstein-Barr virus associated post-transplant lymphoproliferative disorder with CNS involvement: pathological findings at both biopsy and autopsy. Neuropathology. 2011 Aug;31(4):440-5. [IF 1.909]

Miyajima H*, Kohno S, Tomiyama H, Kaneko E. Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency. Muscle Nerve. 1999 Mar;22(3):429-30. [IF2.367]