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別紙４
研究成果の刊行に関する一覧表レイアウト
書籍 著者氏名 論文タイトル名 書籍全体の
編集者名 書 籍 名 出版社名 出版地 出版年 ページ 該当なし
雑誌
発表者氏名 論文タイトル名 発表誌名 巻号 ページ 出版年
Uemura M, Nozaki H, Koyama A, Sakai N, Ando S, Kanazawa M,
Onodera O
HTRA1 Mutations Identified in Symptomatic Carriers Have th e Property of Interfering the T rimer-Dependent Activation Ca
scade
Frontiers in Neurol ogy
10 1-6 2019
Sakai N, Uemura M, Kato T, Nozaki H, Ko yama A, Ando S, Kam ei H, Kato M and Ono
dera O
Hemorrhagic cerebral small ve ssel disease caused by a novel mutation in 3′ UTR of collag
en type IV alpha 1
Neurology Genetics 6 e383-4 2019
上村昌寛, 小野寺理.
皮質下梗塞と白質脳症を伴う 常染色体優性脳動脈症（CADA
SIL）［指定難病124］.
指定難病ペディア
2019.
148巻特別号(1). 111 2019
渡邉明子、水田依久子、
水野敏樹
遺伝性脳小血管病の診断と臨 床.
最新医学
74巻・6号 818 - 826 2019
Matsuura J, Inoue R, T akagi T, Wada S, Wata nabe A, Koizumi T, M ukai M, Mizuta I, Nait
o Y, Mizuno T.
Analysis of gut microbiota in patients with cerebral autosoma l dominant arteriopathy with su bcortical infarcts and leukoence
phalopathy (CADASIL).
J Clin Biochem
Nutr. 65(3) 240-244 2019
Takeshi Y, Suda S, Sh imoyama T, Aoki J, S uzuki K, Okubo S, Mi zuta I, Mizuno T, Kim
ura K.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopat hy Associated With a Novel I n-Frame Mutation in the NOT CH3 Gene in a Japanese Patie
nt
J Stroke Cerebrova sc Dis.
Jan29(1) 104482. 2020
Mao Mukai, Ikuko Miz uta, Akiko Watanabe-H osomi, Takashi Koizum i, Jun Matsuura, Ai Ha mano, Hidekazu Tomi moto, Toshiki Mizuno
Genotype-phenotype Correlations and Effect of Mutation Location in Japanese
CADASIL Patients
J Hum Genet doi: 10.1038/s10 038-020-0751-9.
On line 2020
8
Ishikawa H, Ii Y, Shin do A, Tabei KI, Umino M, Ito AO, Matsuura K, Taniguchi A, Matsu yama H, Niwa A, Ogur a T, Yoshimaru K, Sat oh M, Maeda M, Tomi
moto H.
Cortical Microinfarcts Detected by 3-Tesla Magnetic Resonance
Imaging: Differentiation Between Cerebral Amyloid Angiopathy and Embolism.
Stroke 51 2020
冨本秀和 遺伝性脳小血管病.
SRL宝函 40 21-27 2019
松山裕文、冨本秀和 遺伝性血管性認知症
Medical Practice 36 603-607 2019
Senzaki S, Miura S, Oc hi M, Kato T, Okada T, Matsumoto S, Shirao
ka A, Ochi H, Igase M, Kitazawa R, Zhu B,
Ikeuchi T, Ohyagi Y.
Sporadic Japanese case of adult -onset leukoencephalopathy wit h axonal spheroids and pigmen ted glia caused by a de novo
p.Phe849del mutation in CSF1 R.
Neurology Clinical Neuroscience
8 96-98 2020
Tamhankar PM, Zhu B, Tamhankar VP, Withb awkar SM, Seabra L, L ivingston J, Ikeuchi T,
Crow YJ.
Biallelic hypomorphic mutations in CSF1R associated with fata l childhood neurodegeneration
Neuropediatrics in press 2020
Funayama M, Sugihara M, Takata T, Mimura
M, Ikeuchi T.
Remarkable behavioral signs an d progressive non-fluent aphasi a in a patient with adult-onset leukoencephalopathy with axona
l spheroids and pigmented glia (ALSP)
Psychogeriatrics 19 282-285 2019
Kawazoe T, Abe K, Ik euchi T, Miura T, Mez aki N, Tsukamoto T, T
akahashi Y.
A sporadic case of young-onset rapidly progressive dementia with a novel frameshift mutatio n in exon 3 of the CSF1R gen
e.
Neurology Clinical
Neuroscience 7 103-104 2019
池内 健，朱 斌
ミクログリアの機能破綻を原 因とする一次性ミクログリオ
パチー
実験医学
