Mitsuko Nakashima: search on Z-Library

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1

Atlanto-Axial Rotatory Fixation following Ear Surgery for Microtia

Nakashima, Mitsuko, Yano, Hiroki, Takahashi, Kunihiro, Egashira, Michihiro, Hirano, Akiyoshi

Journal:

Plastic & Reconstructive Surgery

Year:

2006

Language:

english

File:

PDF, 11.13 MB

english, 2006

2

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

Fujita, Atsushi, Ochi, Nobuhiko, Fujimaki, Hidehiko, Muramatsu, Hideki, Takahashi, Yoshiyuki, Natsume, Jun, Kojima, Seiji, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Matsumoto, Naomic

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 924 KB

english, 2014

3

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Akasaka, Noriyuki, Magara, Shinichi, Kawashima, Hideshi, Ohashi, Tsukasa, Shiraishi, Hideaki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Brain and Development

Year:

2016

Language:

english

File:

PDF, 1.09 MB

english, 2016

4

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

Hiraide, Takuya, Fukumura, Shinobu, Yamamoto, Akiyo, Nakashima, Mitsuko, Saitsu, Hirotomo

Journal:

Brain and Development

Year:

2020

File:

PDF, 348 KB

2020

5

Multiple coronary and cerebral aneurysms in a patient with chronic thromboangiitis

Yamamoto, Masaki, Nakashima, Junko, Iguchi, Mitsuko, Tashiro, Miwa, Noguchi, Tatsuya, Hiroi, Makoto, Inoue, Keiji, Hanazaki, Kazuhiro, Orihashi, Kazumasa

Journal:

Journal of Cardiology Cases

Year:

2018

Language:

english

File:

PDF, 1.83 MB

english, 2018

6

SPTAN1 encephalopathy: distinct phenotypes and genotypes

Tohyama, Jun, Nakashima, Mitsuko, Nabatame, Shin, Gaik-Siew, Ch'ng, Miyata, Rie, Rener-Primec, Zvonka, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 841 KB

english, 2015

7

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konom

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 5.00 MB

english, 2017

8

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

Minase, Gaku, Miyatake, Satoko, Nabatame, Shin, Arai, Hiroshi, Koshimizu, Eriko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Miyake, Noriko, Saitsu, Hirotomo, Miyamoto, Toshinobu, Sengoku, Kazuo, Matsumot

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 400 KB

english, 2017

9

Beyond Coping and Adaptation: Promoting a Holistic Perspective on Dying

Nakashima, Mitsuko

Journal:

Families in Society: The Journal of Contemporary Social Services

Year:

2003

Language:

english

File:

PDF, 52 KB

english, 2003

10

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

Nakamura, Kazuyuki, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Saitsu, Hirotomo, Jinnou, Hideo, Ohki, Shigeru, Yokochi, Kenji,

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

11

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

Nakashima, Mitsuko, Takano, Kyoko, Osaka, Hitoshi, Aida, Noriko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 315 KB

english, 2014

12

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Tsurusaki, Yoshinori, Kobayashi, Yasuko, Hisano, Masataka, Ito, Shuichi, Doi, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi, Miyake, Noriko

Journal:

Journal of Human Genetics

Year:

2015

File:

PDF, 61 KB

2015

13

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

Fukai, Ryoko, Saitsu, Hirotomo, Tsurusaki, Yoshinori, Sakai, Yasunari, Haginoya, Kazuhiro, Takahashi, Kazumasa, Hubshman, Monika Weisz, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tanaka, Fumiaki, Miyake,

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.40 MB

english, 2016

14

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

Nishri, Daniella, Goldberg-Stern, Hadassa, Noyman, Iris, Blumkin, Lubov, Kivity, Sara, Saitsu, Hirotomo, Nakashima, Mitsuko, Matsumoto, Naomichi, Leshinsky-Silver, Esther, Lerman-Sagie, Tally, Lev, Do

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 514 KB

english, 2016

15

GRIN2D variants in three cases of developmental and epileptic encephalopathy

Tsuchida, Naomi, Hamada, Keisuke, Shiina, Masaaki, Kato, Mitsuhiro, Kobayashi, Yu, Tohyama, Jun, Kimura, Kazue, Hoshino, Kyoko, Ganesan, Vigneswari, Teik, Keng Wee, Nakashima, Mitsuko, Mitsuhashi, Sat

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 4.39 MB

english, 2018

16

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

Sugawara, Yuji, Mizuno, Tomoko, Moriyama, Kengo, Ishiwata, Hisako, Kato, Mitsuhiro, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 267 KB

2020

17

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

Ohba, Chihiro, Nabatame, Shin, Iijima, Yoshitaka, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Tanaka, Fumiaki, Ozono, Keiichi, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

18

Potential new chemotherapy strategy for human ovarian carcinoma with a novel KSP inhibitor

Takenaga, Mitsuko, Yamamoto, Yuki, Takeuchi, Tomoki, Ohta, Yuki, Tokura, Yukie, Hamaguchi, Akemi, Asai, Daisuke, Nakashima, Hideki, Oishi, Shinya, Fujii, Nobutaka

Journal:

Biochemical and Biophysical Research Communications

Year:

2015

Language:

english

File:

PDF, 995 KB

english, 2015

19

Novel biallelic SZT2 mutations in three cases of early-onset epileptic encephalopathy

Tshuchida, Naomi, Nakashima, Mitsuko, Miyauchi, Akihiko, Yoshitomi, Shinsaku, Kimizu, Tomokazu, Ganesan, Vigneswari, Wee Teik, Keng, Gaik-Siew, Ch'ng, Kato, Mitsuhiro, Mizuguchi, Takeshi, Takata, Atsu

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.89 MB

english, 2017

20

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Hiraide, Takuya, Nakashima, Mitsuko, Yamoto, Kaori, Fukuda, Tokiko, Kato, Mitsuhiro, Ikeda, Hiroko, Sugie, Yoko, Aoto, Kazushi, Kaname, Tadashi, Nakabayashi, Kazuhiko, Ogata, Tsutomu, Matsumoto, Naomi

Journal:

Year:

2018

Language:

english

File:

PDF, 1.72 MB

english, 2018

21

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities

Nakajima, Junya, Oana, Shingo, Sakaguchi, Tomohiro, Nakashima, Mitsuko, Numabe, Hironao, Kawashima, Hisashi, Matsumoto, Naomichi, Miyake, Noriko

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 641 KB

english, 2018

22

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo

Journal:

Year:

2019

Language:

english

File:

PDF, 569 KB

english, 2019

23

Histochemical studies of intercellular components of salivary gland tumors with special reference to glycosaminoglycan, laminin and vascular elements

Makoto Toida, Jun Takeuchi, Kazuo Hara, Mitsuko Sobue, Kazuo Tsukidate, Kishiko Goto, Nobuo Nakashima

Journal:

Virchows Archiv

Year:

1984

Language:

english

File:

PDF, 943 KB

english, 1984

24

Immunohistochemical characterization of extracellular matrix components of yolk sac tumors

Nobuo Nakashima, Mitsuko Sobue, Shinji Fukata, Toshiaki Fukatsu, Tetsuro Nagasaka, Noboru Ohiwa, Yoshiharu Nara, Seisyou Lai, Jun Takeuchi

Journal:

Virchows Archiv B Cell Pathology Zell-pathologie

Year:

1989-1990

Language:

english

File:

PDF, 3.47 MB

english, 1989-1990

25

Novel FIG4 mutations in Yunis–Varon syndrome

Nakajima, Junya, Okamoto, Nobuhiko, Shiraishi, Jun, Nishimura, Gen, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Kawashima, Hisashi, Matsumoto, Naomichi, Miyake, Noriko

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 771 KB

english, 2013

26

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Fukai, Ryoko, Hiraki, Yoko, Yofune, Hiroko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 433 KB

english, 2015

27

A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population

Nakashima, Mitsuko, Chung, Suyoun, Takahashi, Atsushi, Kamatani, Naoyuki, Kawaguchi, Takahisa, Tsunoda, Tatsuhiko, Hosono, Naoya, Kubo, Michiaki, Nakamura, Yusuke, Zembutsu, Hitoshi

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 780 KB

english, 2010

28

Histochemical Amd Electron Microscopic Studies Of Intercellular Matrices Of Papilloma Induced By Painting Dmba On The Skin Of Mice

Masaaki Okada, Toshio Seto, Tanetaka Chiba, Masahiko Yoshida, Mitsuko Sobue, Nobuo Nakashima, Jun Takeuchi

Journal:

Pathology International

Year:

1984

Language:

english

File:

PDF, 790 KB

english, 1984

29

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

Iida, Aritoshi, Okamoto, Nobuhiko, Miyake, Noriko, Nishimura, Gen, Minami, Satoshi, Sugimoto, Takuya, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Wata

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 443 KB

english, 2013

30

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

Yamaura, Genpei, Higashiyama, Yuichi, Kusama, Kaori, Kunii, Misako, Tanaka, Kenichi, Koyano, Shigeru, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Iwahashi, Yukiko, Joki

Journal:

Internal Medicine

Year:

2019

Language:

english

File:

PDF, 415 KB

english, 2019

31

Clinical variations of epileptic syndrome associated with PACS2 variant

Mizuno, Tomoko, Miyata, Rie, Hojo, Akira, Tamura, Yumie, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro

Journal:

Brain and Development

Year:

2020

File:

PDF, 865 KB

2020

32

Extracellular matrix of cultivated, poorly differentiated human gastric adenocarcinoma cells promotes attachment and spreading of mesenchymal cells

Scigou Akao, Mitsuko Sobue, Toshiaki Fukatsu, Tetsuro Nagasaka, Nobuo Nakashima, Jun Takeuchi

Journal:

Virchows Archiv B Cell Pathology Zell-pathologie

Year:

1988

Language:

english

File:

PDF, 811 KB

english, 1988

33

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

Nakamura, Kazuyuki, Osaka, Hitoshi, Murakami, Yoshiko, Anzai, Rie, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Kinoshita, Taroh, Matsumoto, Naomichi,

Journal:

Year:

2014

Language:

english

File:

PDF, 400 KB

english, 2014

34

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE

Wada, Takahito, Takano, Kyoko, Tsurusaki, Yoshinori, Miyake, Noriko, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi, Osaka, Hitoshi

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 144 KB

english, 2015

35

A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay

Ikemoto, Satoru, Hamano, Shin-ichiro, Kikuchi, Kenjiro, Koichihara, Reiko, Hirata, Yuko, Matsuura, Ryuki, Hiraide, Takuya, Nakashima, Mitsuko, Inoue, Ken, Kurosawa, Kenji, Saitsu, Hirotomo

Journal:

Brain and Development

Year:

2020

File:

PDF, 577 KB

2020

36

Positive dying and resiliency in later life: A qualitative study

Mitsuko Nakashima, Edward R. Canda

Journal:

Journal of Aging Studies

Year:

2005

Language:

english

File:

PDF, 347 KB

english, 2005

37

Identification of novel BCL11A variants in patients with epileptic encephalopathy: expanding the phenotypic spectrum

Yoshida, Michiko, Nakashima, Mitsuko, Okanishi, Tohru, Kanai, Sotaro, Fujimoto, Ayataka, Itomi, Kazuya, Morimoto, Masafumi, Saitsu, Hirotomo, Kato, Mitsuhiro, Matsumoto, Naomichi, Chiyonobu, Tomohiro

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.46 MB

english, 2017

38

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

Akita, Tenpei, Aoto, Kazushi, Kato, Mitsuhiro, Shiina, Masaaki, Mutoh, Hiroki, Nakashima, Mitsuko, Kuki, Ichiro, Okazaki, Shin, Magara, Shinichi, Shiihara, Takashi, Yokochi, Kenji, Aiba, Kaori, Tohyam

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 1.48 MB

english, 2018

39

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, Hirotomo

Journal:

Human Genome Variation

Year:

2018

Language:

english

File:

PDF, 3.86 MB

english, 2018

40

Merkel cell polyomavirus and Langerhans cell neoplasm

Murakami, Ichiro, Wada, Noriko, Nakashima, Junko, Iguchi, Mitsuko, Toi, Makoto, Hashida, Yumiko, Higuchi, Tomonori, Daibata, Masanori, Matsushita, Michiko, Iwasaki, Takeshi, Kuwamoto, Satoshi, Horie,

Journal:

Cell Communication and Signaling

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

41

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

Hiraide, Takuya, Watanabe, Seiji, Matsubayashi, Tomoko, Yanagi, Kumiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 848 KB

2020

42

Novel compound heterozygousPIGTmutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

Nakashima, Mitsuko, Kashii, Hirofumi, Murakami, Yoshiko, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Kubota, Masaya, Kinoshita, Taroh, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Year:

2014

Language:

english

File:

PDF, 602 KB

english, 2014

43

Possible involvement of NEDD4 in keloid formation; its critical role in fibroblast proliferation and collagen production

CHUNG, Suyoun, NAKASHIMA, Mitsuko, ZEMBUTSU, Hitoshi, NAKAMURA, Yusuke

Journal:

Proceedings of the Japan Academy Series B Physical and Biological Sciences

Year:

2011

Language:

english

File:

PDF, 618 KB

english, 2011

44

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazu

Journal:

Nature Communications

Year:

2019

File:

PDF, 1.53 MB

2019

45

KDM6A Point Mutations Cause Kabuki Syndrome

Miyake, Noriko, Mizuno, Seiji, Okamoto, Nobuhiko, Ohashi, Hirofumi, Shiina, Masaaki, Ogata, Kazuhiro, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Niikawa, Norio, Matsumoto, Naomichi

Journal:

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

46

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

Ohba, Chihiro, Haginoya, Kazuhiro, Osaka, Hitoshi, Kubota, Kazuo, Ishiyama, Akihiko, Hiraide, Takuya, Komaki, Hirofumi, Sasaki, Masayuki, Miyatake, Satoko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mi

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 733 KB

english, 2015

47

Immunohistochemical Techniques for Detection of Dermatan Sulfate Proteoglycan in Tissue Sections

Sobue, Mitsuko, Takeuchi, Jun, Fukatsu, Toshiaki, Nagasaka, Tetsuro, Nakashima, Nobuo, Ogura, Takashi, Katoh, Takashi, Yoshida, Keiichi

Journal:

Biotechnic & Histochemistry

Year:

1989

Language:

english

File:

PDF, 544 KB

english, 1989

48

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

Nakamura, Yuji, Hattori, Ayako, Nakashima, Mitsuko, Ieda, Daisuke, Hori, Ikumi, Negishi, Yutaka, Ando, Naoki, Matsumoto, Naomichi, Saitoh, Shinji

Journal:

Brain and Development

Year:

2017

Language:

english

File:

PDF, 354 KB

english, 2017

49

Quantitative renography with the organ volume method and interporative background subtraction technique

Akihiro Kojima, Yoshikazu Takaki, Akinori Tsuji, Rumi Nakashima, Mitsuko Kira, Masafumi Hara, Seiji Tomiguchi, Masanori Matsumoto, Mutsumasa Takahashi

Journal:

Annals of Nuclear Medicine

Year:

1996

Language:

english

File:

PDF, 1.02 MB

english, 1996

50

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Miyatake, Satoko, Koshimizu, Eriko, Fujita, Atsushi, Fukai, Ryoko, Imagawa, Eri, Ohba, Chihiro, Kuki, Ichiro, Nukui, Megumi, Araki, Atsushi, Makita, Yoshio, Ogata, Tsutomu, Nakashima, Mitsuko, Tsurusa

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 838 KB

english, 2015

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