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YOSHIDA KUNIHIRO

Academic OrganizationTEL
Education and Research OrganizationSchool of Medicine Department of Brain Disease ResearchFAX
PositionMail Address
Address3-1-1 Asahi, Matsumoto 390-8621Web site

Modified:05/29/2019

Profile

Academic Background
College
Shinshu University , (Faculty of Medicine) , 1984

Research

Books, Articles, etc.
Books
Clinicopathological and molecular genetic features of hereditary ceruloplasmin deficiency (aceruloplasminemia).
Metals and Genetics , :301-311 1999


Articles
MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.
EMBO J,36(9):1227-1242 2017
Author: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.


A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Hum Genome Variat,4:17052 2017
Author:Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.


Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: Lesion staging and dynamic changes of axons and microglial subsets.
Brain Pathol,27(6):748-769 2017
Author: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.


Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.
J Hum Genet,62(10):923-925 2017
Author:Yoshida K, Matsushima A, Nakamura K.


Principal component analysis for ataxic gait using a triaxial accelerometer.
J NeuroEng Rehabili,14:37 2017
Author:Matsushima A, Yoshida K, Genno H, Ikeda S.


Natural history of spinocerebellar ataxia type 31: a 4-year prospective study.
Cerebellum,16:518-524 2017
Author: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.


Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.
Eur J Neurol,24(1):37-45 2017
Author:Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki N, Ikeda S, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T.


Coexistence of copper in the iron-rich particles of aceruloplasminemia brain.
Biol Trace Ele Res,175(1):79-86 2017
Author:Yoshida K, Hayashi H, Wakusawa S, Shigemasa R, Koide R, Ishikawa T, Tatsumi Y, Kato K, Ohara S, Ikeda S.


Unexpected occurrence of fetal hemophagocytic syndrome in a patient with hereditary diffuse leukoencephalopathy with spheroids.
Case Rep Clin Med,5:77-84 2016
Author:Kondo Y, Kinoshita M, Yoshida T, Matoba H, Uehara T, Ikeyama M, Nakayama J, Yoshida K, Ikeda S.


Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer.
Cerebellum Ataxias,2:9 2015
Author:Matsushima A, Yoshida K, Genno H, Murata A, Matsuzawa S, Nakamura K, Nakamura A, Ikeda S.


Clinical evolution, neuroimaging, and volumetric analysis of a patient with a CSF1R mutation who presented with progressive nonfluent aphasia.
Parkinsonism Relat Disord,21:817-820 2015
Author:Lee D, Yun JY, Jeong JH, Yoshida K, Nagasaki S, Ahn TB.


Characterization of spheroids in hereditary diffuse leukoencephalopathy with axonal spheroids.
J Neurol Sci,352(1-2):74-78 2015
Author:Jin C, Washimi Y, Yoshida K, Hashizume Y, Yazawa I.


Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
Neurogenetics,16(4):265-276 2015
Author:Sasaki A, Kakita A, Yoshida K, Konno T, Ikeuchi T, Hayashi S, Matsuo H, Shioda K.


Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.
J Neurol Sci,350(1-2):90-92 2015
Author:Yabe I, Matsushima M, Yoshida K, Ishikawa K, Shirai S, Takahashi I, Sasaki H.


Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Hum Genome Val,2:15012 2015
Author:Yahikozawa H, Yoshida K, Shunichi S, Hanyu N, Doi H, Miyatake S, Matsumoto N.


Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
J Neurol Neurosurg Psychiatry,85(9):1024-1028 2014
Author: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.


Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Sci Rep,4:7132 2014
Author: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.


Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
最新医学,69:498-502 2014
Author:吉田邦広, 池田修一


Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)のMR画像.
日本磁気共鳴医学会雑誌,34:42-51 2014
Author:吉田邦広


Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31.
Neuropathology,34:261-267 2014
Author:Yoshida K, Asakawa M, Suzuki-Kouyama E, Tabata K, Shintaku M, Ikeda S, Oyanagi K.


A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan.
Orphanet J Rare Dis,9:118 2014
Author: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.


‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing.
J Hum Genet,59:589-590 2014
Author:Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.


Superficial siderosis associated with aceruloplasminemia. Case report
JOURNAL OF THE NEUROLOGICAL SCIENCES,339(41641):231-234 2014
Author:Matsushima, A; Yoshida, T; Yoshida, K; Ohara, S; Toyoshima, Y; Kakita, A; Ikeda, S


Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: An MRI-based study.
INTERNAL MEDICINE,53(1):21-27 2014
Author:Kinoshita, M; Kondo, Y; Yoshida, K; Fukushima, K; Hoshi, K; Ishizawa, K; Araki, N; Yazawa, I;Washimi, Y; Saitoh, B; Kira, J; Ikeda, S


Sporadic hereditary diffuse leukoencephalopathy with axonal spheroids showing numerous lesions with restricted diffusivity caused by a novel splice site mutation in the CSF1R gene.
Clin Exp Neuroimmunol,4:76-81 2013
Author:Saitoh B, Yoshida K, Hayashi S, Yamasaki R, Sato S, Kamada T, Suzuki SO, Murai H, Iwaki T, Ikeda S, Kira J.


A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.
Mult Scler,19:1367-1370 2013
Author:Saitoh B, Yamasaki R, Hayashi S, Yoshimura S, Tateishi T, Ohyagi Y, Murai H, Iwaki T, Yoshida K, Kira JI.


A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: A report of two cases.
Neuropathol Appl Neurobiol,39:837-843 2013
Author:Kimura T, Ishizawa K, Mitsufuji T, Abe T, Nakazato Y, Yoshida K , Sasaki A, Araki N.


Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation.
Acta Neuropathol,126:151-153 2013
Author: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.


Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
JOURNAL OF HUMAN GENETICS,58(8):560-563 2013
Author:Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y


Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
INTERNAL MEDICINE,52(4):503-506 2013
Author:Kondo, Y; Kinoshita, M; Fukushima, K; Yoshida, K; Ikeda, S


Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis carrying L106V mutation in SOD1 gene.
J Neurol Sci,319:63-74 2012
Author:Hineno A, Nakamura A, Shimojima Y, Yoshida K, Oyanagi K, Ikeda S.


Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report.
J Neurol Sci,318:115-118 2012
Author:Kinoshita M, Yoshida K, Oyanagi K, Hashimoto T, Ikeda S.


Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation.
Amyotroph Lateral Scler 2012
Author:Nakamura A, Hineno A, Yoshida K, Sekijima Y, Hanaoka-Tachibana N, Takei Y, Ohara S, Ikeda S.


Extensive brain pathology in an aceruloplasminemia patient with a prolonged duration of illness.
Hum Pathol,43:451-456 2012
Author:Kaneko K, HinenoA, Yoshida K, Ohara S, Morita H, Ikeda S.


A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
J Neurol Sci,313(1-2):189-192 2012
Author:Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S.


Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Am J Hum Genet,89:320-327 2011
Author: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.


Ceruloplasmin protects against rotenone-induced oxidative stress and neurotoxicity.
Neurochem Res,36:2127-2135 2011
Author:Hineno A, Kaneko K, Yoshida K, Ikeda S.


Criteria for early identification of aceruloplasminemia
Intern Med,50:1415-1418 2011
Author:Ogimoto M, Anzai K, Takenoshita H, Kogawa K, Akehi Y, Yoshida R, Nakano M, Yoshida K, Ono J.


Matrix metalloproteinase-2 ablation in dystrophin-deficient mdx muscles reduces angiogenesis resulting in impaired growth of regenerated muscle fibers.
Hum Molec Genet,20(9):1787-1799 2011
Author:Miyazaki D, Nakamura A, Fukushima K, Yoshida K, Takeda S, Ikeda S.


Adult or late-onset triple A syndrome. case report and literature review
J Neurol Sci,297:85-88 2010
Author:Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, Takei Y, Morita H, Kayanuma K, Ikeda S.


Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
Neurogenetics,11(4):409-415 2010
Author:Sakai H, Yoshida K, Shimizu Y, Morita H, Ikeda SI, Matsumoto N.


A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
J Hum Genet,54(12):746-748 2009
Author:Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S.


Spinocerebellar ataxia type 6 (SCA6): clinical pilot trial with gabapentin.
J Neurol Sci,278(1-2):107-111 2009
Author:Nakamura K, Yoshida K, Miyazaki D, Morita H, Ikeda S.


Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.
J Hum Genet,54:127-130 2009
Author:Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, Takeda S, Ikeda S.


Severity and progressionrate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16-ADCA) in the endemic Nagano area of Japan
Cerebellum,8(1):46-51 2009
Author: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.


Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene.
J Clin Neurosci,15:757-763 2008
Author:Nakamura A, Yoshida K, Urasawa N, Ueda H, Koyama J, Yazaki Y, Fukushima K, Yazaki M, Sakai T, Haruta S , Takeda S, Ikeda S.


Increased vulnerability to rotenone-induced neurotoxicity in ceruloplasmin-deficient mice.
Neurosci Lett,446:56-58 2008
Author:Kaneko K, Hineno A, Yoshida K, Ikeda S.


Activation and localization of matrix metalloproteinase-2 and -9 in the skeletal muscle of the muscular dystrophy dog (CXMDJ).
BMC Musculoskeletal Disord,8:54 2007
Author:Fukushima K, Nakamura A, Ueda H, Yuasa K, Yoshida K, Takeda S, Ikeda S.


Nationwide survey on predictive genetic testing for late-onset, intractable neurological diseases in Japan
J Hum Genet,52:675-679 2007
Author:Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y.


Huntington's disease with onset ages greater than 60 years
Geriatr Gerontol Int,7:80-82 2007
Author:Yoshida K, Yanagawa S, Tsuchiya A, Nakajima T, Fukushima Y, Ikeda S.


Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia.
Neuropathol Appl Neurobiol,32(2):170-176 2006
Author:Oide, T;Yoshida, K; Kaneko, K; Ohta, M; Arima, K


A-16C>T substitution in the 5'UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
J Hum Genet,51(5):461-466 2006
Author: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


Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
Mov Disord,21(9):1510-1513 2006
Author:Tojo, K; Sekijima, Y; Suzuki, T; Suzuki, N; Tomita, Y; Yoshida,K; Hashimoto, T; Ikeda, SI


A Japanese case of SCA14 with the Gly128Asp mutation.
J Hum Genet,51(12):1118-1121 2006
Author:Morita, H; Yoshida, K; Suzuki, K; Ikeda, S


Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
J Invest Dermatol,124(6):1186-1192 2005
Author: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


Thalamic stimulation for disabling tremor in a patient with spinocerebellar degeneration.
Stereotact Funct Neurosurg,83:131-134 2005
Author:Shimojima Y, Hashimoto T, Kaneko K, Yazaki M, Yoshida K, Gono T, Yamada R, Hongo K, Ikeda S


Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Mov Disord,20(10):1366-1369 2005
Author: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


Chronic exercise accelerates the degeneration-regeneration cycle and downregulates insulin-like growth factor-1 in muscle of mdx mice.
Muscle Nerve,32(2):191-199 2005
Author:Okano T, Yoshida K, Nakamura A, Sasazawa F, Oide T, Takeda S ,Ikeda S


Up-regulation of mitogen activated protein kinases in mdx skeletal muscle following chronic treadmill exercise.
Biochim Biophys Acta,1740(3):326-331 2005
Author:Nakamura A, Yoshida K, Ueda H, Takeda S, Ikeda S


A new diagnostic test for VLCAD deficiency using immunohistochemistry
Neurology,62(12):2209-2213 2004
Author: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


Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.
J Hum Genet,49(11):610-616 2004
Author:Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, Ikeda S


Efficacy of tacrolimus in treatment of polymyositis associated with myasthenia gravis
Clin Rheumatol,23(3):262-265 2004
Author:Shimojima Y, Gono T, Yamamoto K, Hoshi K, Matsuda M, Yoshida K, Ikeda S


Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.
Clin Neurol Neurosurg,106(2):122-128 2004
Author:Nakamura A, Yoshida K, Ikeda S


Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene
Intern Med,42(7):599-604 2003
Author:Hatanaka, Y; Okano, T; Oda, K; Yamamoto, K; Yoshida, K


Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
Mov Disord,18(10):1201-1204 2003
Author:Hashimoto, T; Sasaki, O; Yoshida, K; Takei, Y; Ikeda, S


Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice.
Biochemica et Biophysica Acta,1588(3):195-202 2002
Author:Yamamoto K, Yoshida K, Miyagoe Y, Ishikawa A, Hanaoka K, Nomoto S, Kaneko K, Ikeda S, Takeda S


Progression of dystrophic features and activation of mitogen-activated protein kinases and calcineurin by physical exercise, in hearts of mdx mice.
FEBS Letters,520(1-3):18-24 2002
Author:Nakamura A, Yoshida K, Takeda S, Dohi N, Ikeda S


Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia.
J Neuropathol Exp Neurol,61(12):1069-1077 2002
Author:Kaneko K, Yoshida K, Arima K, Ohara S, Miyajima H, Kato T, Ohta M, Ikeda S


Glial fibrillary acidic protein is greatly modified by oxidative stress in aceruloplasminemia brain.
FreeRadicalResearch,36(3):303-306 2002
Author:Kaneko K, Nakamura A, Yoshida K, Kametani F, Higuchi K, Ikeda S


Trientine increases fecal copper excretion in Wilson's disease: A case report
J Trace Ele Exp Med,14(4):405-407 2001
Author:Ishikawa, S; Nomoto, S; Yoshida, K; Tokuda, T; Ikeda, S


Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
Am J Med Genet,94(4):265-270 2000
Author: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


Increased lipid peroxidation in the brains of aceruloplasminemia patients.
J Neurol Sci,175(2):91-95 2000
Author:Yoshida K


Cessation of cerebral hemorrhage recurrence associated with corticosteroid treatment in a patient with cerebral amyloid angiopathy.
Amyloid,7(4):284-288 2000
Author:Hoshi K/ Yoshida K


Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.
Am J Hum Genet,66(1):143-147 2000
Author:Ghadami M/ Makita Y/ Yoshida K


Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Nat Genet,26(1):19-20 2000
Author:Kinoshita A/ Saito T/ Tomita H/ Makita Y/ Yoshida K


Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
Amyloid,6(4):282-288 1999
Author:Tachibana, N; Tokuda, T; Yoshida, K; Taketomi, T; Nakazato, M; Li, YF; Masuda, Y; Ikeda, S


Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years.
Eur Neurol,42(3):145-149 1999
Author:Yazaki M/ Yoshida K


b2-microglobulin-deficient background ameliorates lethal phenotype of TGF-b1 null mouse.
J Immunol,163:4013-4019 1999
Author:Kobayashi S/ Yoshida K


A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
J Neurol Sci,165(1):6-9 1999
Author:Hanaoka N/ Yoshida K


Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): Clinical and neuropathological features of a Japanese family.
J Neurol Sci,158(1):30-37 1998
Author:Sekijima, Y; Ohara, S; Nakagawa, S; Tabata, K; Yoshida, K; Ishigame, H; Shimizu, Y; Yanagisawa, N


Multiple spinal perimedullary arteriovenous fistulae associated with the Parkes-Weber syndrome - A case report
Intervent Neuroradiol,4(2):151-157 1998
Author:Niimi, Y; Ito, U; Tone, O; Yoshida, K; Sato, S; Berenstein, A


DNA sequence motifs are associated with aberrant homologous recombination in the mouse macrophage migration inhibitory factor (Mif) locus.
Gene,215:85-92 1998
Author:Kobayashi S/ Yoshida K


A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.
J Neurol Sci,156(1):30-34 1998
Author:Yazaki M/ Yoshida K


Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.
Hum Molec Genet,7(7):1129-1132 1998
Author:Yoshida K


An X-ray structural study of humanceruloplasmin in relation to ferroxidase activity.
J Biol Inorg Chem,2(4):454-463 1997
Author:Lindley, PF; Card, G; Zaitseva, I; Zaitsev, V; Reinhammar, B; SelinLindgren, E; Yoshida, K


Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker muscular dystrophy.
Am J Hum Genet,60(6):1555-1558 1997
Author:Nakamura A/ Ikeda S/ Yazaki M/ Yoshida K


A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.
Nat Genet,9(3):267-272 1995
Author:Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, Ikeda S, Shimizu N, Yanagisawa N.


Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
Ann Neurol,37(5):646-656 1995
Author:Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S, Kato M, Yanagisawa N.


Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Hum Genet,93(2):109-114 1994
Author:Oshima A, Yoshida K, Itoh K, Kase R, Sakuraba H, Suzuki Y.


Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55 ->Pro).
Muscle&Nerve,17(6):637-641 1994
Author:Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng SY, Furihata K, Ueno I, Yanagisawa N.


Adult GM1-gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case.
Neurology,44(12):2376-2382 1994
Author:Yoshida K, Ikeda S, Kawaguchi K, Yanagisawa N.


Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy.
Muscle&Nerve,16(11):1161-1166 1993
Author:Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, Yanagisawa N.


GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
Ann Neurol,31(3):328-332 1992
Author: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.


Splicing defect of the glycoasparaginase gene in two Japanese siblings with aspartylglucosaminuria.
Hum Genet,90(1-2):179-180 1992
Author:Yoshida K, Yanagisawa N, Oshima A, Sakuraba H, Iida Y, Suzuki Y.


Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases
Am J Hum Genet,49(2):435-442 1991
Author:Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y.


Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.
Clin Genet,40(4):318-325 1991
Author:Yoshida K, Ikeda S, Yanagisawa N, Yamauchi T, Tsuji S, Hirabayashi Y.