Papers - TAKASHIMA Hiroshi
-
Yuan J, Takashima Hiroshi, Higuchi Itsuro, Arimura Kimiyoshi, Li N, Zhao Z, Shen H, Hu J. . Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. . Neuropediatrics.39 ( 5 ) 264 - 267 2008.5Reviewed
-
Hayashi Daisuke, Kubota Ryuji, Takenouchi Norihiro, Tanaka Y, Hirano Ryuki, Takashima Hiroshi, Osame Mitsuhiro, Izumo Shuji, Arimura Kimiyoshi. . Reduced Foxp3 expression with increased cytomegalovirus-specific CTL in HTLV-I-associated myelopathy. . Journal of Neuroimmunology200 ( 42006 ) 115 - 124 2008.1Reviewed
-
Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF. . Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? . EMBO J26 ( 22 ) 4732 - 4743 2007.10Reviewed
-
Maeda K, Kaji R, Yasuno K, Jambaldorj J, Nodera H, Takashima H, Nakagawa M, Makino S, Tamiya G. . Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. . J Hum Genet52 ( 11 ) 907 - 914 2007.10Reviewed
-
Bajestan SN, Sabouri AH, Nakamura M, Takashima H, Keikhaee MR, Behdani F, Fayyazi MR, Sargolzaee MR, Bajestan MN, Sabouri Z, Khayami E, Haghighi S, Hashemi SB, Eiraku N, Tufani H, Najmabadi H, Arimura K, Sano A, Osame M. . .Association of AKT1 haplotype with the risk of schizophrenia in Iranian population. . Am J Med Genet B Neuropsychiatr Genet141 ( 4 ) 383 - 386 2006.7Reviewed
-
Arata H, Takashima H, Hirano R, Tomimitsu H, Machigashira K, Izumi K, Kikuno M, Ng AR, Umehara F, Arisato T, Ohkubo R, Nakabeppu Y, Nakajo M, Osame M, Arimura K. . Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu). . Neurology66 ( 11 ) 1672 - 1678 2006Reviewed
-
Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K. . Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. . Neurogenetics7 ( 3 ) 175 - 183 2006Reviewed
-
Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K. . Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. . Neurogenetics ( 5 ) 215 - 221 2004.8Reviewed
-
Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. . SBF2/MTMR13 mutation causes CMT4B with juvenile onset glaucoma. . Neurology 63 ( 3 ) 577 - 580 2004.8Reviewed
-
Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SCH, Stern LZ, Lupski JR. . GDAP1 mutations and CMT4A: a clinical and pathologic description and identification of a Hispanic founder mutation . Ann. Neurol53 ( 3 ) 400 - 405 2003.1Reviewed
-
Jordanova A, De Jobghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin J -J, Butler IJ, Mancias P, Papasozomenos SC, Terespolski D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. . Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. . Brain 126 ( 3 ) 590 - 597 2003.1Reviewed
-
Takashima H, Boerkoel CF, Lupski JR. . Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy . Genet Med3 ( 5 ) 335 - 342 2002.1Reviewed
-
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR . Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy . Nat Genet30 ( 2 ) 267 - 272 2002.1Reviewed
-
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW . Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia . Nat Genet30 ( 2 ) 215 - 220 2002.1Reviewed
-
Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR . Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation . Ann Neurol51 ( 2 ) 190 - 201 2002.1Reviewed
-
Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. . Periaxin mutations cause a broad spectrum of demyelinating neuropathies . Ann Neurol51 ( 6 ) 709 - 715 2002.1Reviewed
-
Takashima H, Boerkoel CF, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR . Periaxin mutations cause recessive Dejerine-Sottas neuropathy. . Am J Hum Genet68 ( 2 ) 325 - 33 2001.1Reviewed
-
Hiroshi Takashima, Nakagawa M, Kanzaki A, Yawata Y, Horikiri T, Matsuzaki T, Suehara M, Izumo S, Osame M . Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomotocytosis. . Neuromuscul Disord9 232 - 238 1999.1Reviewed
-
Kiwaki T, Umehara F, Takashima H, Nakagawa M, Kamimura K, Kashio N, Sakamoto Y, Unoki K, Nobuhara Y, Michizono K, Watanabe O, Arimura H, Osame . Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma . Neurology55 392 - 397 1999.1Reviewed
-
Utatsu Y, Takashima H, Michizono K, Kanda N, Endou K, Matsuyama Y, Fujimoto T, Nagai M, Umehara F, Higuchi I, Arimura K, Nakagawa M, Osame M . Autosomal dominant early onset dementia and leukoencephalopathy in Japanese family: clinical, neuroimaging and genetic studies. . J Neurol Sci147 55 - 62 1999.1Reviewed