Doctor of Medicine

1984, Shinshu University, Faculty of Medicine

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, Refereed

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, Refereed

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, Refereed

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

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

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

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, Refereed

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, Refereed

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

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

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

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

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

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

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

‘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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Metals and Genetics
Single work, Clinicopathological and molecular genetic features of hereditary ceruloplasmin deficiency (aceruloplasminemia).
301-311 1999