遺伝性神経疾患と遺伝カウンセリング-overview-
関島良樹
日本遺伝カウンセリング学会誌, 44(181), 188-188, 2023
ニューロパチー診療の進歩 -核酸医薬を中心に-
関島良樹
日本内科学会雑誌, 112(9), 1654-1661, 2023
脳神経内科領域における開発途上の薬剤
関島良樹
BRAIN and NERVE, 75(5), 427-432, 2023
遺伝性ATTRアミロイドーシス(トランスサイレチン型家族性アミロイドポリニューロパチー)
関島良樹
CLINICAL NEUROSCIENCE, 41(5), 720-724, 2023
多彩な臨床像を呈したduropathyの58歳男性剖検例
髙橋佑介、小平農、上原魁、伊東清志、矢崎正英、山田光則、関島良樹
信州医学雑誌, 71(2), 127-130, 2023
脳腱黄色腫症の早期治療のために
稲葉雄二、関島良樹
脳と発達, 55(1), 12-17, 2023
Cervical myelopathy due to amyloid deposition with accompanying cardiac abnormalities
Uehara M, Kuraishi S, Ikegami S, Oba H, Takizawa T, Munakata R , Hatakenaka T, Kamanaka T, Miyaoka Y, Sekijima Y, Takahashi J
J Spinal Cord Med, 46(4), 697-701, 2023, Refereed
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Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis
Takahashi Y, Oguchi K, Mochizuki Y, Takasone K, Ezawa N, Matsushima A, Katoh N, Yazaki M, Sekijima Y
Amyloid, 30(1), 109-118, 2023, Refereed
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Anterior horn damage in brachial multisegmental amyotrophy with superficial siderosis and dural tear: an autopsy case report
Takahashi Y, Kodaira M, Yamada M, Uehara K, Ito K, Kaneko T, Ohashi H, Yazaki M, Sekijima Y
BMC Neurology, 23(1), 129-129, 2023, Refereed
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Tongue Hemiatrophy in Multifocal Motor Neuropathy
Tajiri M, Kodaira M, Nakamura K, Sekijima Y
62(18), 2759-2760, 2023, Refereed
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Hypertrophic pachymeningitis in ANCA-associated vasculitis: Clinical and immunopathological features and insights
Shimojima Y, Sekijima Y
Autoimmun Rev, 22(6), 103338-103338, 2023, Refereed
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Features of BAFF and APRIL receptors on circulating B cells in antineutrophil cytoplasmic antibody-associated vasculitis
Shimojima Y, Kishida D, Ichikawa T, Takamatsu R, Nomura S, Sekijima Y
Clin Exp Immunol, 213(1), 125--137, 2023, Refereed
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Neurofilament light chain as a biomarker for monitoring response to change in treatment in hereditary ATTR amyloidosis
Sato M, Mochizuki Y, Takahashi Y, Takasone K, Aldinc E, Ticau S, Jia G, Sekijima Y
Amyloid, 30(3), 351-352, 2023, Refereed
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Reduction of cardiac AL amyloid deposition after complete response visualised by PiB-PET imaging
Oguchi K, Katoh N, Mochizuki Y, Takahashi Y, Ueno A, Takasone K, Sekijima Y
Amyloid, 30(1), 138-139, 2023, Refereed
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Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A
Nakamura K, Yoshinaga T, Kodaira M, Kise E, Kosho T, Sekijima Y
Intern Med, 62(20), 3047-3051, 2023, Refereed
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Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease
Nakamura K, Mukai S, Takezawa Y, Natori Y, Miyazaki A, Ide Y, Takebuchi M, Nanato K, Katoh M, Suzuki H, Sakyu A, Kojima T, Kise E, Hanafusa H, Kosho T, Kuwahara K, Sekijima Y
Mol Genet Metab Rep, 36, 100983-100983, 2023, Refereed
Steep increase in the number of transthyretin-positive cardiac biopsy cases in Japan: evidence obtained by the nation-wide pathology consultation for the typing diagnosis of amyloidosis
Naiki H, Yamaguchi A, Sekijima Y, Ueda M, Ohashi K, Hatakeyama K, Ikeda Y, Hoshii Y, Shintani-Domoto Y, Miyagawa-Hayashino A, Tsujikawa H, Endo J, Arai T, Ando Y
Amyloid, 30(3), 321-326, 2023, Refereed
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Treatment response to Tafamidis quantitatively assessed by serial bone scintigraphy in transthyretin amyloid cardiomyopathy
Maeda-Ogata S, Tahara N, Tahara A, Bekki M, Honda A, Sugiyama Y, Igata S, Abe T, Sekijima Y, Ueda M, Ando Y, Fukumoto Y
J Nucl Cardiol, 30(1), 403-404, 2023, Refereed
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Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
Kondo Y, Yoshinaga T, Nakamura K, Yamaguchi T, Ishikawa M, Kosho T, Sekijima Y
Neurol Genet, 9(1), e200047-e200047, 2023, Refereed
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Lung Lobectomy Is an Embolic Risk Factor for Cerebral Infarction, Even in the Long-term Postoperative Phase
Kobayashi Y, Kondo Y, Yamamoto K, Sekijima Y
Intern Med, 62(22), 3401-3404, 2023, Refereed
Ocular findings in patients with acquired ATTRv amyloidosis following domino liver transplantation
Kitahara J, Yoshinaga T, Kakihara S, Hirano T, Imai A, Miyahara T, Yazaki M, Sekijima Y, Murata T
PLoS One, 18(9), e0291716-e0291716, 2023, Refereed
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"Quantitative evaluation of the thickened dura mater impacting clinical signs in immune-mediated hypertrophic pachymeningitis"
Ikeda J, Shimojima Y, Yamada A, Sekijima Y
J Neurol Sci, 453, 120780-120780, 2023, Refereed
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Impact of online health information-seeking behavior on shared decision-making in patients with systemic lupus erythematosus: The TRUMP2-SLE project
Ichikawa T, Kishida D, Shimojima Y, Yajima N, Oguro N, Yoshimi R, Sakurai N, Hidekawa C, Sada KE, Miyawaki Y, Hayashi K, Shidahara K, Ishikawa Y, Sekijima Y, Kurita N
Lupus, 32(11), 1258-1266, 2023, Refereed
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Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
Hanafusa H, Nakamura K, Kamijo Y, Kitahara M, Ehara T, Yoshinaga T, Aoki K, Katoh N, Yamaguchi T, Kosho T, Sekijima Y
JIMD Rep, 64(6), 410-416, 2023
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A retrospective analysis of clinical features and treatment outcome in 21 patients with immunoglobulin M-related light-chain amyloidosis in Japan: a study from the Amyloidosis Research Committee
Fuchida S, Ogura M, Ishida T, Hata H, Handa H, Katoh N, Nakaseko C, Sunami K, Katayama Y, Nobata H, Oshiro K, Iida S, Sekijima Y, Naiki H, Shimazaki C
Int J Hematol, 118(4), 443-449, 2023
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Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial
Adams D, Tournev IL , Taylor MS , Coelho T, Planté-Bordeneuve V, Berk JL ,González-Duarte A, Gillmore JD , Low SC, Sekijima Y ,Obici L, Chen C, Badri P, Arum SM , Vest J , Polydefkis M ; HELIOS-A Collaborators
Amyloid, 30(1), 1-9, 2023, Refereed
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Therapeutic Outcome of Lenalidomide-dexamethasone in Patients with Relapsed or Refractory Systemic Immunoglobulin Light Chain (AL) Amyloidosis : A Single-center Analysis and Review of the Literature
Ueno Akihiro, Katoh Nagaaki, Ezawa Naoki, Yoshinaga Tsuneaki, Yazaki Masahide, Sekijima Yoshiki
The Shinshu Medical Journal, 70(1), 29-38, Feb. 2022
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Searching for the Frequency of Cardiac Transthyretin Amyloidosis among Elderly Heart Failure Patients Noninvasively Using 99mTc-labeled Pyrophosphate Scintigraphy
Miura Takashi, Okina Yoshiteru, Mochidome Tomoaki, Kobayashi Takahiro, Kasai Toshio, Ikeda Uichi, Ezawa Naoki, Sekijima Yoshiki, Kuwahara Koichiro
The Shinshu Medical Journal, 69(1), 37-44, 10 Feb. 2021
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Dialysis-related amyloidosis associated with a novel β2-microglobulin variant
Mizuno H, Hoshino J, So M, Kogure Y, Fujii T, Ubara Y, Takaichi K, Nakaniwa T, Tanaka H, Kurisu G, Kametani F, Nakagawa M, Yoshinaga T, Sekijima Y, Higuchi K, Goto Y, Yazaki M
Amyloid, 28(1), 42-49, 2021, Refereed
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Development of diagnostic antibodies against immunoglobulin heavy chain variable region for heavy chain amyloidosis (AH amyloidosis)
Nakagawa M, Yazaki M, Kametani F, Katoh N, Yoshinaga T, Higuchi K, Sekijima Y
Pathol Int, 71(4), 245-254, 2021, Refereed
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Giant hepatomegaly with spleno-testicular enlargement in a patient with apolipoprotein A-I amyloidosis: an uncommon type of amyloidosis in Japan.
Yoshinaga T, Katoh N, Yazaki M, Sato M, Kametani F, Yasuda H, Watanabe K, Kawata K, Nakagawa M, Sekijima Y
Intern Med, 60(4), 575-581, 2021, Refereed
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Spread of vimentin-immunoreactive cells within the plaque-like lesion in the spinal anterior horn of a patient with post-poliomyelitis syndrome
Hineno A, Oyanagi K, Yoshida T, Sakai Y, Kanno H, Sekijima Y
Neuropathology, 41(5), 406-411, 2021, Refereed
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Quantitative Analysis of Endocardial and Epicardial Left Ventricular Myocardial Deformation in Patients with Cardiac Amyloidosis
Kozuka, Ayako; Koyama, Jun; Sekijima, Yoshiki; Ikeda, Uichi
信州医学雑誌, 67(1), 49-62, 10 Feb. 2019
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Pathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype
Sekijima Y, Campos RI, Hammarström P, Nilsson KP, Yoshinaga T, Nagamatsu K, Yazaki M, Kametani F, Ikeda S
J Peripher Nerv Syst, 20, 372-379, 2015, Refereed
Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis
Sekijima Y, Tojo K, Morita H, Koyama J, Ikeda S
Amyloid, 22, 79-83, 2015, Refereed
Transthyretin-type cerebral amyloid angiopathy: a serious complication in post-transplant patients with familial amyloid polyneuropathy
Sekijima Y
J Neurol Neurosurg Psychiatry, 86, 124, 2015, Refereed
Taransthyretin( ATTR)amyloidosis:clinical spectrum, molecular pathogenesis and disease-modifying treatments
Sekijima Y
J Neurol Neurosurg Psychiatry, 86, 1036-1043, 2015, Refereed
p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
Nakamura, K; Sekijima, Y; Nakamura, K; Hattori, K; Nagamatsu, K; Shimizu, Y; Yazaki, M; Sakurai, A; Endo, F; Fukushima, Y; Ikeda, SI
EUROPEAN JOURNAL OF NEUROLOGY, 21(1), 49-56, 2014, Refereed
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Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene
Sekijima, Y; Nakamura, K; Kishida, D; Narita, A; Adachi, K; Ohno, K; Nanba, E; Ikeda, S
INTERNAL MEDICINE, 52(1), 119-124, 2013, Refereed
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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, Refereed
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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 SI
J Neurol Sci, 313(1-2), 189-192, 2012, Refereed
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Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
Nakamura A, Hineno A, Yoshikda K, Sekijima Y, Hanaoka-Tachibana N, Takei Y, Ohara S, Ikeda SI
Amyotroph Lateral Scler, 13, 479-486, 2012, Refereed
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High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly
Sekijima Y, Uchiyama S, Tojo K, Sano K, Shimizu Y, Imaeda T, Hoshii Y, Kato H, Ikeda SI
Hum Pathol, 42(11), 1785-1795, 2011, Refereed
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Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy
Tojo, Kana; Tsuchiya-Suzuki, Ayako; Sekijima, Yoshiki; Morita, Hiroshi; Sumita, Naoko; Ikeda, Shu-Ichi
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 17(1), 32-35, May 2010, Refereed
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Cerebral hemorrhage in Fabry's disease
Nakamura, Katsuya; Sekijima, Yoshiki; Nakamura, Kimitoshi; Hattori, Kiyoko; Nagamatsu, Kiyoshiro; Shimizu, Yusaku; Yasude, Takuji; Ushiyama, Masao; Endo, Fumio; Fukushima, Yoshimitsu; Ikeda, Shu-ichi
JOURNAL OF HUMAN GENETICS, 55(4), 259-261, Apr. 2010, Refereed
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Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy: distribution and excretion of imiglucerase in human milk
Sekijima Y, Ohashi T, Ohira S, Kosho T, Fukushima Y
Clin Ther, 32(12), 2048-2052, 2010, Refereed
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CPPD crystal deposition disease of the cervical spine: A common cause of acute neck pain encountered in the neurology department
Sekijima Y, Yoshida T, Ikeda SI
J Neurol Sci, 296(1-2), 79-82, 2010, Refereed
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蛋白質ミスフォールディング病の発症機序と治療戦略
信州医学雑誌, 56(3), 115-124, 2008
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Benign intracranial hypertension and leukoencephalopathy due to venous sinus stenosis in an SLE patient
Yasude, T; Sekijima, Y; Mitsuhashi, S; Gono, T; Matsuda, M; Ikeda, S
Lupus, 16(10), 839-840, 2007, Refereed
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アルツハイマー病 原因と危険因子
関島良樹/池田修一
からだの科学, 218, 41-47, 2001
Serum transthyretin monomer in patients with familial amyloid polyneuropathy
Sekijima, Y; Tokuda, T; Kametani, F; Tanaka, K; Maruyama, K; Ikeda, S
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 8(4), 257-262, 2001, Refereed
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Three patients with isolated adrenocorticotropin deficiency presenting with neuroleptic malignant syndrome-like symptoms
Sekijima, Y; Hoshi, K; Kasai, H; Okada, M; Namiki, S; Ohta, K; Nakano, T; Hirayama, J; Ikeda, S
INTERNAL MEDICINE, 40(6), 510-514, 2001, Refereed
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Amyloid beta protein species in cerebrospinal fluid and in brain from patients with Down's syndrome
Tamaoka, A; Sekijima, Y; Masuno, S; Tokuda, T; Shoji, S; Ikeda, SI
ANNALS OF NEUROLOGY, 46(6), 933-933, 1999, Refereed
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Presenilin-1 exists in the axoplasm fraction in the brains of aged Down's syndrome subjects and non-demented individuals
Sekijima, Y; Kametani, F; Tanaka, K; Okochi, M; Usami, M; Mori, H; Tokuda, T; Ikeda, S
NEUROSCIENCE LETTERS, 267(2), 121-124, 1999, Refereed
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Sleep apnoea of central origin in a case of myotonic dystrophy
Sekijima, Y; Morita, H; Hashimoto, T; Yamazaki, M; Yanagisawa, N
JOURNAL OF CLINICAL NEUROSCIENCE, 5(1), 112-115, 1998, Refereed
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Prevalence of dementia of Alzheimer type and apolipoprotein E phenotypes in aged patients with Down's syndrome
Sekijima, Y; Ikeda, S; Tokuda, T; Satoh, S; Hidaka, H; Hidaka, E; Ishikawa, M; Yanagisawa, N
EUROPEAN NEUROLOGY, 39(4), 234-237, 1998, Refereed
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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
JOURNAL OF THE NEUROLOGICAL SCIENCES, 158(1), 30-37, 1998, Refereed
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Serial magnetic resonance imaging (MRI) study of a patient with Balo's concentric sclerosis treated with immunoadsorption plasmapheresis
Y. Sekijima, T. Tokuda T, T. Hashimoto 他3名
Mult. Scler, 2, 291-294, 1997, Refereed
Follow-up of sarin poisoning in Matsumoto
Sekijima, Y; Morita, H; Yanagisawa, N
ANNALS OF INTERNAL MEDICINE, 127(11), 1042-1042, 1997, Refereed
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全身性アミロイドーシスからアルツハイマー病へのimplication
関島良樹
週刊医学のあゆみ, (13), 1039-1046
Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange
Tsai FJ, Nelson LT, Kline GM, Jäger M, Berk JL , Sekijima Y , Powers ET , Kelly JW
Amyloid, 30(2), 220-224, Refereed
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Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis.
Maurer MS, Kale P, Fontana M, Berk JL, Grogan M, Gustafsson F, Hung RR, Gottlieb RL, Damy T, González-Duarte A, Sarswat N, Sekijima Y, Tahara N, Taylor MS, Kubanek M, Donal E, Palecek T, Tsujita K, Tang WHW, Yu WC, Obici L, Simões M, Fernandes F, Poulsen SH, Diemberger I, Perfetto F, Solomon SD, Di Carli M, Badri P, White MT, Chen J, Yureneva E, Sweetser MT, Jay PY, Garg PP, Vest J, Gillmore JD; APOLLO-B Trial Investigators
N Engl J Med, 389(17), 1553-1565, Refereed
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Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Ando Y, Waddington-Cruz M, Sekijima Y, Koike H, Ueda M, Konishi H, Ishii T, Coelho T.
Orphanet J Rare Dis, 18(1), 323-323, Refereed
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