Papers - TAKASHIMA Hiroshi
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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 2006Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.Reviewed
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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 2004.8Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. Reviewed
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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 2004.8SBF2/MTMR13 mutation causes CMT4B with juvenile onset glaucoma. Reviewed
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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 2003.1GDAP1 mutations and CMT4A: a clinical and pathologic description and identification of a Hispanic founder mutationReviewed
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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 2003.1Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.Reviewed
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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 2002.1Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathyReviewed
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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 2002.1Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyReviewed
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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 2002.1Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaReviewed
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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 2002.1Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlationReviewed
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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 2002.1Periaxin mutations cause a broad spectrum of demyelinating neuropathiesReviewed
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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 2001.1Periaxin mutations cause recessive Dejerine-Sottas neuropathy.Reviewed
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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 1999.1Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomotocytosis.Reviewed
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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 1999.1Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucomaReviewed
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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 1999.1Autosomal dominant early onset dementia and leukoencephalopathy in Japanese family: clinical, neuroimaging and genetic studies.Reviewed
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Nakagawa M, Suehara M, Saito A, Takashima H, Umehara F, Saito M, Kanzato N, Matsuzaki T, Takenaga S, Sakoda S, Izumo S, Osame M . A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths . Neurology52 1271 - 1275 1999.1A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheathsReviewed
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Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kanzato N, Matuzaki T, Hirata K, Terwilliger JD, Osame M . Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. . Neuromuscul Disord9 232 - 238 1999.1Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.Reviewed
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Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. . A New Type of Hereditary Motor and Sensory Neuropathy linked to chromosome 3. . Annals of Neurology41 ( 6 ) 771 - 780 1997.3A New Type of Hereditary Motor and Sensory Neuropathy linked to chromosome 3. Reviewed
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Hiroshi Takashima , Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M . A new type of Hereditary motor and sensory neuropathy linked to chromosome 3 . Ann Neurol 41 771 - 780 1997.1A new type of Hereditary motor and sensory neuropathy linked to chromosome 3Reviewed
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Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Salih MAM, Takashima H, Boerkoel CF . Spinocerebellar Ataxia with Axonal Neuropathy Type 1. . 1993Spinocerebellar Ataxia with Axonal Neuropathy Type 1.