吉田 邦広 (ヨシダ クニヒロ)
特任教授
研究者情報
研究活動情報
論文
- 認知症発症10年以上前より特徴的な微小石灰化と脳梁菲薄化を認めた神経軸索スフェロイドと顆粒状グリアを伴う成人発症白質脳症の1例.
岡本美由紀, 竹下潤, 高橋一則, 田中朗雄, 吉田邦広, 栗山勝.
臨床神経, 57, 521-526, 2017年, 査読有り - 皮質性小脳萎縮症
吉田邦広
Clinical Neuroscience, 35(9), 1062-1065, 2017年 - Coexistence of copper in the iron-rich particles of aceruloplasminemia brain.
Yoshida K, Hayashi H, Wakusawa S, Shigemasa R, Koide R, Ishikawa T, Tatsumi Y, Kato K, Ohara S, Ikeda S.
Biol Trace Ele Res, 175(1), 79-86, 2017年, 査読有り
- Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.
Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki N, Ikeda S, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T.
Eur J Neurol, 24(1), 37-45, 2017年, 査読有り - Natural history of spinocerebellar ataxia type 31: a 4-year prospective study.
Nakamura K, Yoshida K, Matsushima A, Shimizu Y, Sato S, Yahikozawa H, Ohara S, Yazawa M, Ushiyama M, Sato M, Morita H, Inoue A, Ikeda S.
Cerebellum, 16, 518-524, 2017年, 査読有り - Principal component analysis for ataxic gait using a triaxial accelerometer.
Matsushima A, Yoshida K, Genno H, Ikeda S.
J NeuroEng Rehabili, 14, 37, 2017年, 査読有り - Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.
Yoshida K, Matsushima A, Nakamura K.
J Hum Genet, 62(10), 923-925, 2017年 - Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: Lesion staging and dynamic changes of axons and microglial subsets.
Oyanagi K, Kinoshita M, Suzuki-Kouyana E, Inoue T, Nakahara A, Tokiwai M, Arai N, Satoh J, Aoki N, Jinnai K, Yazawa I, Arai K, Ishihara K, Kawamura M, Ishizawa K, Hasegawa K, Yagisita S, Amano N, Yoshida K, Terada S, Yoshida M, Akiyama H, Mitsuyama Y, Ikeda S.
Brain Pathol, 27(6), 748-769, 2017年 - A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.
Hum Genome Variat, 4, 17052, 2017年, 査読有り - MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.
Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
EMBO J, 36(9), 1227-1242, 2017年, 査読有り - Unexpected occurrence of fetal hemophagocytic syndrome in a patient with hereditary diffuse leukoencephalopathy with spheroids.
Kondo Y, Kinoshita M, Yoshida T, Matoba H, Uehara T, Ikeyama M, Nakayama J, Yoshida K, Ikeda S.
Case Rep Clin Med, 5, 77-84, 2016年 - Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Yahikozawa H, Yoshida K, Shunichi S, Hanyu N, Doi H, Miyatake S, Matsumoto N.
Hum Genome Val, 2, 15012, 2015年 - Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.
Yabe I, Matsushima M, Yoshida K, Ishikawa K, Shirai S, Takahashi I, Sasaki H.
J Neurol Sci, 350(1-2), 90-92, 2015年 - Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
Sasaki A, Kakita A, Yoshida K, Konno T, Ikeuchi T, Hayashi S, Matsuo H, Shioda K.
Neurogenetics, 16(4), 265-276, 2015年 - Characterization of spheroids in hereditary diffuse leukoencephalopathy with axonal spheroids.
Jin C, Washimi Y, Yoshida K, Hashizume Y, Yazawa I.
J Neurol Sci, 352(1-2), 74-78, 2015年 - Clinical evolution, neuroimaging, and volumetric analysis of a patient with a CSF1R mutation who presented with progressive nonfluent aphasia.
Lee D, Yun JY, Jeong JH, Yoshida K, Nagasaki S, Ahn TB.
Parkinsonism Relat Disord, 21, 817-820, 2015年 - Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer.
Matsushima A, Yoshida K, Genno H, Murata A, Matsuzawa S, Nakamura K, Nakamura A, Ikeda S.
Cerebellum Ataxias, 2, 9, 2015年 - 小脳の感染症
吉田邦広，佐藤俊一
医学のあゆみ, 255(10), 1005-1010, 2015年 - ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing.
Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
J Hum Genet, 59, 589-590, 2014年 - A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan.
Yasui K, Yabe I, Yoshida K, Kanai K, Arai K, Ito M, Onodera O, Koyano S, Isozaki E, Sawai S, Adachi Y, Sasaki H, Kuwabara S, Hattori T, Sobue G, Mizusawa H, Tsuji S, Nishizawa M, Nakashima K.
Orphanet J Rare Dis, 9, 118, 2014年 - Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31.
Yoshida K, Asakawa M, Suzuki-Kouyama E, Tabata K, Shintaku M, Ikeda S, Oyanagi K.
Neuropathology, 34, 261-267, 2014年 - Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)のMR画像.
吉田邦広
日本磁気共鳴医学会雑誌, 34, 42-51, 2014年 - Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
吉田邦広, 池田修一
最新医学, 69, 498-502, 2014年 - Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y.
J Neurol Neurosurg Psychiatry, 85(9), 1024-1028, 2014年 - 神経難病に対する診断, 治療, および在宅療養支援
中村昭則, 吉田邦広
総合リハビリテーション, 497-505, 42, 2014年 - Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: An MRI-based study.
Kinoshita, M; Kondo, Y; Yoshida, K; Fukushima, K; Hoshi, K; Ishizawa, K; Araki, N; Yazawa, I;Washimi, Y; Saitoh, B; Kira, J; Ikeda, S
INTERNAL MEDICINE, 53(1), 21-27, 2014年
- Superficial siderosis associated with aceruloplasminemia. Case report
Matsushima, A; Yoshida, T; Yoshida, K; Ohara, S; Toyoshima, Y; Kakita, A; Ikeda, S
JOURNAL OF THE NEUROLOGICAL SCIENCES, 339(41641), 231-234, 2014年 - Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa FY, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K.
Sci Rep, 4, 7132, 2014年 - Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation.
90. Dziewulska D, Doi H, Fasano A, Erro R, Fatehi F, Fekete R, Gatto EM, Pablos EG, Lehn A, Miyajima H, Piperno A, Pellechia MT, Wu YR, Yoshida K, Zarruk JG, Jingli S, Schrag A, McNeill A. Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation. Acta Neuropathol 126: 151-153, 2013.
Acta Neuropathol, 126, 151-153, 2013年 - A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: A report of two cases.
Kimura T, Ishizawa K, Mitsufuji T, Abe T, Nakazato Y, Yoshida K , Sasaki A, Araki N.
Neuropathol Appl Neurobiol, 39, 837-843, 2013年 - A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.
Saitoh B, Yamasaki R, Hayashi S, Yoshimura S, Tateishi T, Ohyagi Y, Murai H, Iwaki T, Yoshida K, Kira JI.
Mult Scler, 19, 1367-1370, 2013年 - Sporadic hereditary diffuse leukoencephalopathy with axonal spheroids showing numerous lesions with restricted diffusivity caused by a novel splice site mutation in the CSF1R gene.
Saitoh B, Yoshida K, Hayashi S, Yamasaki R, Sato S, Kamada T, Suzuki SO, Murai H, Iwaki T, Ikeda S, Kira J.
Clin Exp Neuroimmunol, 4, 76-81, 2013年 - 軸索腫大を伴う遺伝性びまん性白質脳症の臨床と分子病態（神経変性疾患 ―研究と診療の進歩―）.
吉田邦広
医学のあゆみ, 247, 433-438, 2013年 - Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
Kondo, Y; Kinoshita, M; Fukushima, K; Yoshida, K; Ikeda, S
INTERNAL MEDICINE, 52(4), 503-506, 2013年 - Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y
JOURNAL OF HUMAN GENETICS, 58(8), 560-563, 2013年 - Extensive brain pathology in an aceruloplasminemia patient with a prolonged duration of illness.
Kaneko K, HinenoA, Yoshida K, Ohara S, Morita H, Ikeda S.
Hum Pathol, 43, 451-456, 2012年 - Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report.
Kinoshita M, Yoshida K, Oyanagi K, Hashimoto T, Ikeda S.
J Neurol Sci, 318, 115-118, 2012年 - Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis carrying L106V mutation in SOD1 gene.
Hineno A, Nakamura A, Shimojima Y, Yoshida K, Oyanagi K, Ikeda S.
J Neurol Sci, 319, 63-74, 2012年 - リピート伸長病（triplet repeat disease） －トリプレットリピート病を中心に－
吉田邦広
SRL宝函, 32(4), 20-29, 2012年 - 皮質性小脳萎縮症（CCA）
吉田邦広
最新医学, 67(5), 2012年 - 神経変性疾患は個体間伝播するか？ －アミロイドーシス・モデルからの推論－
吉田邦広
Brain&Nerve, 64(6), 665-674, 2012年 - A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S.
J Neurol Sci, 313(1-2), 189-192, 2012年 - Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation.
Nakamura A, Hineno A, Yoshida K, Sekijima Y, Hanaoka-Tachibana N, Takei Y, Ohara S, Ikeda S.
Amyotroph Lateral Scler, 2012年 - Criteria for early identification of aceruloplasminemia
Ogimoto M, Anzai K, Takenoshita H, Kogawa K, Akehi Y, Yoshida R, Nakano M, Yoshida K, Ono J.
Intern Med, 50, 1415-1418, 2011年 - Ceruloplasmin protects against rotenone-induced oxidative stress and neurotoxicity.
Hineno A, Kaneko K, Yoshida K, Ikeda S.
Neurochem Res, 36, 2127-2135, 2011年 - Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N.
Am J Hum Genet, 89, 320-327, 2011年 - 神経疾患の遺伝子診断－神経内科医の果たす役割－
吉田邦広
難病と在宅ケア, 16, 50-53, 2011年 - ハンチントン病
吉田邦広
検査と技術, 39, 6-10, 2011年 - Matrix metalloproteinase-2 ablation in dystrophin-deficient mdx muscles reduces angiogenesis resulting in impaired growth of regenerated muscle fibers.
Miyazaki D, Nakamura A, Fukushima K, Yoshida K, Takeda S, Ikeda S.
Hum Molec Genet, 20(9), 1787-1799, 2011年 - Adult or late-onset triple A syndrome. case report and literature review
Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, Takei Y, Morita H, Kayanuma K, Ikeda S.
J Neurol Sci, 297, 85-88, 2010年 - 中枢神経系の鉄沈着
吉田邦広
神経内科, 73, 105-109, 2010年 - Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
Sakai H, Yoshida K, Shimizu Y, Morita H, Ikeda SI, Matsumoto N.
Neurogenetics, 11(4), 409-415, 2010年 - Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.
Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, Takeda S, Ikeda S.
J Hum Genet, 54, 127-130, 2009年 - Severity and progressionrate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16-ADCA) in the endemic Nagano area of Japan
Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, Matsumoto N,Nakamura K, Tazawa K, Ohara S, Tabata K, Inoue A, Sato S, Shimojima Y, Hattori T, Ushiyama M, Ikeda S.
Cerebellum, 8(1), 46-51, 2009年 - Spinocerebellar ataxia type 6 (SCA6): clinical pilot trial with gabapentin.
Nakamura K, Yoshida K, Miyazaki D, Morita H, Ikeda S.
J Neurol Sci, 278(1-2), 107-111, 2009年 - A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S.
J Hum Genet, 54(12), 746-748, 2009年 - Increased vulnerability to rotenone-induced neurotoxicity in ceruloplasmin-deficient mice.
Kaneko K, Hineno A, Yoshida K, Ikeda S.
Neurosci Lett, 446, 56-58, 2008年 - Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene.
Nakamura A, Yoshida K, Urasawa N, Ueda H, Koyama J, Yazaki Y, Fukushima K, Yazaki M, Sakai T, Haruta S , Takeda S, Ikeda S.
J Clin Neurosci, 15, 757-763, 2008年 - Huntington's disease with onset ages greater than 60 years
Yoshida K, Yanagawa S, Tsuchiya A, Nakajima T, Fukushima Y, Ikeda S.
Geriatr Gerontol Int, 7, 80-82, 2007年 - Nationwide survey on predictive genetic testing for late-onset, intractable neurological diseases in Japan
Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y.
J Hum Genet, 52, 675-679, 2007年 - Activation and localization of matrix metalloproteinase-2 and -9 in the skeletal muscle of the muscular dystrophy dog (CXMDJ).
Fukushima K, Nakamura A, Ueda H, Yuasa K, Yoshida K, Takeda S, Ikeda S.
BMC Musculoskeletal Disord, 8, 54, 2007年 - 長野県在住の筋萎縮性側索硬化症患者の臨床的重症度と療養実態
吉田邦広, 矢彦沢裕之, 田畑賢一, 大原慎司, 羽生憲直, 池田修一
信州医学雑誌, 55(4), 181-190, 2007年 - A Japanese case of SCA14 with the Gly128Asp mutation.
Morita, H; Yoshida, K; Suzuki, K; Ikeda, S
J Hum Genet, 51(12), 1118-1121, 2006年 - Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
Tojo, K; Sekijima, Y; Suzuki, T; Suzuki, N; Tomita, Y; Yoshida,K; Hashimoto, T; Ikeda, SI
Mov Disord, 21(9), 1510-1513, 2006年 - A-16C>T substitution in the 5'UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
Ohata, T; Yoshida, K; Sakai, H; Hamanoue, H; Mizuguchi, T; Shimizu, Y; Okano, T; Takada, F; Ishikawa, K; Mizusawa, H; Yoshiura, K; Fukushima, Y; Ikeda, S; Matsumoto, N
J Hum Genet, 51(5), 461-466, 2006年 - Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia.
Oide, T;Yoshida, K; Kaneko, K; Ohta, M; Arima, K
Neuropathol Appl Neurobiol, 32(2), 170-176, 2006年 - 神経内科診療における遺伝カウンセリングの意義
吉田邦広
神経内科, 62, 251-256, 2005年 - A．遺伝子診断（genetic diagnosis) Ⅲ.疾患群の遺伝学的検査（genetic testing)と遺伝子検査(gene-based testing) 神経・筋疾患
吉田邦広
日本臨床, 63, 183-189, 2005年 - 神経疾患の発症前遺伝子診断ー遺伝カウンセリングの現場から
吉田邦広，山下浩美，玉井真理子
医学のあゆみ, 213, 703-707, 2005年 - Up-regulation of mitogen activated protein kinases in mdx skeletal muscle following chronic treadmill exercise.
Nakamura A, Yoshida K, Ueda H, Takeda S, Ikeda S
Biochim Biophys Acta, 1740(3), 326-331, 2005年 - Chronic exercise accelerates the degeneration-regeneration cycle and downregulates insulin-like growth factor-1 in muscle of mdx mice.
Okano T, Yoshida K, Nakamura A, Sasazawa F, Oide T, Takeda S ,Ikeda S
Muscle Nerve, 32(2), 191-199, 2005年 - Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel-Ollivier A, Doummar D, Caillaud C, Galanaud D, Billette de Villemeur T, Vidailhet M, Roubergue A
Mov Disord, 20(10), 1366-1369, 2005年 - Thalamic stimulation for disabling tremor in a patient with spinocerebellar degeneration.
Shimojima Y, Hashimoto T, Kaneko K, Yazaki M, Yoshida K, Gono T, Yamada R, Hongo K, Ikeda S
Stereotact Funct Neurosurg, 83, 131-134, 2005年 - Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Fukai K, Takama H, Sato K, Ishikawa O, Abe M, Shimizu H, Kawai M, Horikawa T, Yoshida K, Matsumoto K, Terui T, Tsujioka K, Tomita Y
J Invest Dermatol, 124(6), 1186-1192, 2005年 - 遺伝子医療の現状と将来展望(特集 遺伝子診断と倫理)
吉田邦広，福嶋義光
科学, 74, 615-620, 2004年 - 無セルロプラスミン血症の病態機序
兼子一真，吉田邦広
神経内科, 61, 151-155, 2004年 - 無セルロプラスミン血症の遺伝子異常
吉田邦広
神経内科, 61, 146-150, 2004年 - Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.
Nakamura A, Yoshida K, Ikeda S
Clin Neurol Neurosurg, 106(2), 122-128, 2004年 - Efficacy of tacrolimus in treatment of polymyositis associated with myasthenia gravis
Shimojima Y, Gono T, Yamamoto K, Hoshi K, Matsuda M, Yoshida K, Ikeda S
Clin Rheumatol, 23(3), 262-265, 2004年 - Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.
Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, Ikeda S
J Hum Genet, 49(11), 610-616, 2004年 - A new diagnostic test for VLCAD deficiency using immunohistochemistry
Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Yarita H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I
NEUROLOGY, 62(12), 2209-2213, 2004年 - Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
Hashimoto, T; Sasaki, O; Yoshida, K; Takei, Y; Ikeda, S
Mov Disord, 18(10), 1201-1204, 2003年 - Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene
Hatanaka, Y; Okano, T; Oda, K; Yamamoto, K; Yoshida, K
Intern Med, 42(7), 599-604, 2003年 - Glial fibrillary acidic protein is greatly modified by oxidative stress in aceruloplasminemia brain.
Kaneko K, Nakamura A, Yoshida K, Kametani F, Higuchi K, Ikeda S
FreeRadicalResearch, 36(3), 303-306, 2002年 - Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia.
Kaneko K, Yoshida K, Arima K, Ohara S, Miyajima H, Kato T, Ohta M, Ikeda S
J Neuropathol Exp Neurol, 61(12), 1069-1077, 2002年 - Progression of dystrophic features and activation of mitogen-activated protein kinases and calcineurin by physical exercise, in hearts of mdx mice.
Nakamura A, Yoshida K, Takeda S, Dohi N, Ikeda S
FEBS Letters, 520(1-3), 18-24, 2002年 - Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice.
Yamamoto K, Yoshida K, Miyagoe Y, Ishikawa A, Hanaoka K, Nomoto S, Kaneko K, Ikeda S, Takeda S
Biochemica et Biophysica Acta, 1588(3), 195-202, 2002年 - Trientine increases fecal copper excretion in Wilson's disease: A case report
Ishikawa, S; Nomoto, S; Yoshida, K; Tokuda, T; Ikeda, S
J Trace Ele Exp Med, 14(4), 405-407, 2001年 - Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A/ Saito T/ Tomita H/ Makita Y/ Yoshida K
Nat Genet, 26(1), 19-20, 2000年 - Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.
Ghadami M/ Makita Y/ Yoshida K
Am J Hum Genet, 66(1), 143-147, 2000年 - Cessation of cerebral hemorrhage recurrence associated with corticosteroid treatment in a patient with cerebral amyloid angiopathy.
Hoshi K/ Yoshida K
Amyloid, 7(4), 284-288, 2000年 - Increased lipid peroxidation in the brains of aceruloplasminemia patients.
Yoshida K
J Neurol Sci, 175(2), 91-95, 2000年 - Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
Ishikawa, S; Ishikawa, M; Tokuda, T; Yoshida, K; Wakui, K; Matsuura, S; Ohara, S; Sekijima, Y; Hidaka, E; Fukushima, Y; Shigeta, H; Komatsu, K; Ikeda, S
Am J Med Genet, 94(4), 265-270, 2000年 - b2-microglobulin-deficient background ameliorates lethal phenotype of TGF-b1 null mouse.
Kobayashi S/ Yoshida K
J Immunol, 163, 4013-4019, 1999年 - A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
Hanaoka N/ Yoshida K
J Neurol Sci, 165(1), 6-9, 1999年 - Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years.
Yazaki M/ Yoshida K
Eur Neurol, 42(3), 145-149, 1999年 - Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
Tachibana, N; Tokuda, T; Yoshida, K; Taketomi, T; Nakazato, M; Li, YF; Masuda, Y; Ikeda, S
Amyloid, 6(4), 282-288, 1999年 - DNA sequence motifs are associated with aberrant homologous recombination in the mouse macrophage migration inhibitory factor (Mif) locus.
Kobayashi S/ Yoshida K
GENE, 215, 85-92, 1998年 - Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.
Yoshida K
Hum Molec Genet, 7(7), 1129-1132, 1998年 - A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.
Yazaki M/ Yoshida K
J Neurol Sci, 156(1), 30-34, 1998年 - Multiple spinal perimedullary arteriovenous fistulae associated with the Parkes-Weber syndrome - A case report
Niimi, Y; Ito, U; Tone, O; Yoshida, K; Sato, S; Berenstein, A
Intervent Neuroradiol, 4(2), 151-157, 1998年 - Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): Clinical and neuropathological features of a Japanese family.
Sekijima, Y; Ohara, S; Nakagawa, S; Tabata, K; Yoshida, K; Ishigame, H; Shimizu, Y; Yanagisawa, N
J Neurol Sci, 158(1), 30-37, 1998年 - Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker muscular dystrophy.
Nakamura A/ Ikeda S/ Yazaki M/ Yoshida K
Am J Hum Genet, 60(6), 1555-1558, 1997年 - An X-ray structural study of humanceruloplasmin in relation to ferroxidase activity.
Lindley, PF; Card, G; Zaitseva, I; Zaitsev, V; Reinhammar, B; SelinLindgren, E; Yoshida, K
J Biol Inorg Chem, 2(4), 454-463, 1997年 - Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S, Kato M, Yanagisawa N.
Ann Neurol, 37(5), 646-656, 1995年 - A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.
Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, Ikeda S, Shimizu N, Yanagisawa N.
Nat Genet, 9(3), 267-272, 1995年 - Adult GM1-gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case.
Yoshida K, Ikeda S, Kawaguchi K, Yanagisawa N.
NEUROLOGY, 44(12), 2376-2382, 1994年 - Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55 ->Pro).
Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng SY, Furihata K, Ueno I, Yanagisawa N.
MUSCLE&NERVE, 17(6), 637-641, 1994年 - Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Oshima A, Yoshida K, Itoh K, Kase R, Sakuraba H, Suzuki Y.
Hum Genet, 93(2), 109-114, 1994年 - Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy.
Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, Yanagisawa N.
MUSCLE&NERVE, 16(11), 1161-1166, 1993年 - Splicing defect of the glycoasparaginase gene in two Japanese siblings with aspartylglucosaminuria.
Yoshida K, Yanagisawa N, Oshima A, Sakuraba H, Iida Y, Suzuki Y.
Hum Genet, 90(1-2), 179-180, 1992年 - GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, Iwasaki S, Takamiya K, Suzuki Y.
Ann Neurol, 31(3), 328-332, 1992年 - Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.
Yoshida K, Ikeda S, Yanagisawa N, Yamauchi T, Tsuji S, Hirabayashi Y.
Clin Genet, 40(4), 318-325, 1991年 - Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases
Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y.
Am J Hum Genet, 49(2), 435-442, 1991年
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