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1

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging

Tohru Ikegami, Hiroyuki Ikeda, Phillip F. Chance, Hidenori Kiyosawa, Masahiko Yamamoto, Gen Sobue, Akio Ohnishi, Nobutada Tachi, Kiyoshi Hayasaka

Journal:

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

2

Epstein-Barr virus genomic sequences and specific antibodies in cerebrospinal fluid in children with neurologic complications of acute and reactivated EBV infections

Shosuke Imai, Norio Usui, Makoto Sugiura, Toyoro Osato, Toshiya Sato, Hiroyuki Tsutsumi, Nobutada Tachi, Shuji Nakata, Tatsuru Yamanaka, Shunzo Chiba, Masamitsu Shimada

Journal:

Journal of Medical Virology

Year:

1993

Language:

english

File:

PDF, 995 KB

english, 1993

3

Somatic cell heterogeneity between DNA extracted fromllymphocytes and skeletal muscle in congenital myotonic dystrophy

Kazuhiro Ohya, Nobutada Tachi, Shin-ichiro Kon, Kokichi Kikuchi, Shunzo Chiba

Journal:

Journal of Human Genetics

Year:

1995

Language:

english

File:

PDF, 680 KB

english, 1995

4

Detection of the CTG repeat expansion in congenital myotonic dystrophy

Kazuhiro Ohya, Nobutada Tachi, Toshiya Sato, Shinichiro Kon, Kokichi Kikuchi, Shunzo Chiba

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 634 KB

english, 1997

5

Detection of the mutation in facioscapulohumeral muscular dystrophy patients

KAZUHIRO OHYA, NOBUTADA TACHI, NAOKI KOZUKA, SHIN-ICHIRO KON, KOKICHI KIKUCHI, SHUNZO CHIBA

Journal:

Pediatrics International

Year:

1997

Language:

english

File:

PDF, 480 KB

english, 1997

6

New mutation of CACNA1A gene in episodic ataxia type 2

Koki Nikaido, Nobutada Tachi, Kazuhiro Ohya, Takahito Wada, Hiroyuki Tsutsumi

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 194 KB

english, 2011

7

10.1038/ng1001-189

Moreira, Maria-Céu, Barbot, Clara, Tachi, Nobutada, Kozuka, Naoki, Uchida, Eiji, Gibson, Toby, Mendonça, Pedro, Costa, Manuela, Barros, José, Yanagisawa, Takayuki, Watanabe, Mitsunori, Ikeda, Yoshio,

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 549 KB

english, 2001

8

Sex–dependent rearrangements resulting in CMT1A and HNPP

Lopes, Judith, Vandenberghe, Antoon, Tardieu, Sandrine, lonasescu, Victor, Lévy, Nicolas, Wood, Nicholas, Tachi, Nobutada, Bouche, Pierre, Latour, Philippe, Brice, Alexis

Journal:

Nature Genetics

Year:

1997

File:

PDF, 229 KB

1997

9

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

Hayasaka, Kiyoshi, Himoro, Masato, Sawaishi, Yukio, Nanao, Kenji, Takahashi, Tsutomu, Takada, Goro, Nicholson, Garth A., Ouvrier, Robert A., Tachi, Nobutada

Journal:

Nature Genetics

Year:

1993

File:

PDF, 327 KB

1993

10

Clinicopathological and virological analyses of familial human T-lymphotropic virus type I-associated polyneuropathy

Hirofumi Sawa, Toshiko Nagashima, Kazuo Nagashima, Toshiya Shinohara, Takayo Chuma, Yukio Mano, Nobutada Tachi, William W. Hall

Journal:

Journal of NeuroVirology

Year:

2005

Language:

english

File:

PDF, 498 KB

english, 2005

11

Carbamazepine-Induced Hemolytic and Aplastic Crises Associated with Reduced Glutathione Peroxidase Activity of Erythrocytes

Masaki Yamamoto, Nobuhiro Suzuki, Naoki Hatakeyama, Noriaki Kubo, Nobutada Tachi, Hitoshi Kanno, Hisaichi Fujii, Hiroyuki Tsutsumi

Journal:

International Journal of Hematology

Year:

2007

Language:

english

File:

PDF, 154 KB

english, 2007

12

A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba, Kimio Sasaki, Keichi Uyemura, Kiyoshi Hayasaka

Journal:

Neuroscience Letters

Year:

1996

Language:

english

File:

PDF, 377 KB

english, 1996

13

Muscle pathology in Marinesco-Sjo¨gren syndrome: a unique ultrastructural feature

Kimio Sasaki, Kazuhiro Suga, Satoshi Tsugawa, Kazuko Sakuma, Nobutada Tachi, Shunzo Chiba, Shigetaka Imamura

Journal:

Brain and Development

Year:

1996

Language:

english

File:

PDF, 1.49 MB

english, 1996

14

Minimal somatic instability of CTG repeat in congenital myotonic dystrophy

Nobutada Tachi, Kazuhiro Ohya, Shunzo Chiba, Toshiya Sato, Kokichi Kikuchi

Journal:

Pediatric Neurology

Year:

1995

Language:

english

File:

PDF, 339 KB

english, 1995

15

Muscle involvement in congenital insensitivity to pain with anhidrosis

Nobutada Tachi, Kazuhiro Ohya, Sunzo Chiba, Hirosi Nihira, Kimio Minagawa

Journal:

Pediatric Neurology

Year:

1995

Language:

english

File:

PDF, 267 KB

english, 1995

16

The appearance of aprataxin in rat cultured neuron and glia

Takafumi Ninomiya, Shin Kikuchi, Ryoichi Ichikawa, Naoki Kozuka, Nobutada Tachi, Haruyuki Tatsumi

Journal:

Neuroscience Research

Year:

2007

Language:

english

File:

PDF, 79 KB

english, 2007

17

A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1

Nobutada Tachi, Sin Kikuchi, Naoki Kozuka, Azusa Nogami

Journal:

Pediatric Neurology

Year:

2005

Language:

english

File:

PDF, 208 KB

english, 2005

18

New Mutation of the PTCH Gene in Nevoid Basal-Cell Carcinoma Syndrome With West Syndrome

Nobutada Tachi, Katsunori Fujii, Mitsugu Kimura, Kouhei Seki, Masahisa Hirakai, Toshiyuki Miyashita

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 139 KB

english, 2007

19

Molecular and pathological studies in Charcot-Marie-Tooth disease 1A

Naoki Kozuka, Nobutada Tachi, Kazuhiro Ohya, Shunzo Chiba

Journal:

Brain and Development

Year:

1997

Language:

english

File:

PDF, 319 KB

english, 1997

20

Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin

Nobutada Tachi, Shunzo Chiba, Masafumi Matsuo, Kiichiro Matsumura, Kayoko Saito

Journal:

Pediatric Neurology

Year:

2001

Language:

english

File:

PDF, 508 KB

english, 2001

21

Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba, Kimio Sasaki, Keiichi Uyemura

Journal:

Pediatric Neurology

Year:

2001

Language:

english

File:

PDF, 232 KB

english, 2001

22

A double mutation in a patient with X-linked myotubular myopathy

Nobutada Tachi, Naoki Kozuka, Shunzo Chiba, Masanao Miyaji, Isamu Watanabe

Journal:

Pediatric Neurology

Year:

2001

Language:

english

File:

PDF, 109 KB

english, 2001

23

Haplotype analysis of congenital myotonic dystrophy patients from asymptomatic DM father

Nobutada Tachi, Kazuhiro Ohya, Hidehisa Yamagata, Tetsuro Miki, Kokichi Kikuchi, Shunzo Chiba

Journal:

Pediatric Neurology

Year:

1997

Language:

english

File:

PDF, 692 KB

english, 1997

24

De novo mutation of Charcot-Marie-Tooth disease type IA

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba

Journal:

Pediatric Neurology

Year:

1997

Language:

english

File:

PDF, 274 KB

english, 1997

25

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation

Yuji Suzuki, Takahito Wada, Taeko Sakai, Yukitoshi Ishikawa, Ryoji Minami, Nobutada Tachi, Shinji Saitoh

Journal:

Pediatric Neurology

Year:

1998

Language:

english

File:

PDF, 128 KB

english, 1998

26

Charcot-marie-tooth disease type 1A duplication by PCR analysis

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba

Journal:

Pediatric Neurology

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

27

Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity

Maria do Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka, Pedro Mendonça, José Barros, Paula Coutinho, Jorge Sequeiros, Michel Koenig

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 817 KB

english, 2001

28

A Case of Congenital Myopathy without Specific Features

Nobutada Tachi, Shizue Hosoya, Mutsuko Watanabe, Shuji Wakai, Ryoji Minami

Journal:

Pediatrics International

Year:

1987

Language:

english

File:

PDF, 1.22 MB

english, 1987

29

Histopathological Study of the Biopsied Muscles from Juvenile Patients with Congenital Myotonic Dystrophy

Shuji Wakai, Keiji Kameda, Minoru Okabe, Masato Nagaoka, Ryoji Minami, Nobutada Tachi

Journal:

Pediatrics International

Year:

1988

Language:

english

File:

PDF, 1.26 MB

english, 1988

30

Benign Familial Neonatal Convulsions: Clinical Features of the Propositus and Comparison with the Previously Reported Cases

Shuji Wakai, Nobutada Tachi, Shunzo Chiba, Yukitoshi Ishikawa, Minoru Okabe, Ryoji Minami, Masahiro Kibayashi

Journal:

Pediatrics International

Year:

1991

Language:

english

File:

PDF, 406 KB

english, 1991

31

Severe Neonatal Nemaline Myopathy—Histological and Histochemical Studies of Respiratory Muscles—

Nobutada Tachi, Shuji Wakai, Yukie Watanabe, Youichi Kurosawa, Yoshitaka Agatsuma, Shunzo Chiba

Journal:

Pediatrics International

Year:

1992

Language:

english

File:

PDF, 1.38 MB

english, 1992

32

Asymptomatic Becker muscular dystrophy: Histological changes in biopsied muscles

NOBUTADA TACHI, YUKIE WATANABE, KAZUHIRO OHYA, SHUNZO CHIBA

Journal:

Pediatrics International

Year:

1993

Language:

english

File:

PDF, 467 KB

english, 1993

33

Electron microscopic study of the biopsied cardiac muscle in Duchenne muscular dystrophy

Shuji Wakai, Ryoji Minami, Keiji Kameda, Minoru Okabe, Masato Nagaoka, Shunpei Annaka, Yoshihito Higashidate, Hideshi Tomita, Nobutada Tachi

Journal:

Journal of the Neurological Sciences

Year:

1988

Language:

english

File:

PDF, 2.91 MB

english, 1988

34

Acute disseminated encephalomyelitis following HTLV-I associated myelopathy

Nobutada Tachi, Toshihide Watanabe, Shuji Wakai, Tosiya Sato, Shunzo Chiba

Journal:

Journal of the Neurological Sciences

Year:

1992

Language:

english

File:

PDF, 219 KB

english, 1992

35

Delayed expression of dystrophin on regenerating muscle from two siblings with Becker muscular dystrophy

Nobutada Tachi, Shuji Wakai, Yukie Watanabe, Shunzo Chiba, Masato Nagaoka, Ryoji Minami

Journal:

Journal of the Neurological Sciences

Year:

1992

Language:

english

File:

PDF, 926 KB

english, 1992

36

Unstable DNA in a patient with a severe form of congenital myotonic dystrophy

Nobutada Tachi, Kazuhiro Ohya, Shunzo Chiba, Toshiya Sato

Journal:

Journal of the Neurological Sciences

Year:

1993

Language:

english

File:

PDF, 570 KB

english, 1993

37

Expression of Po protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III

Nobutada Tachi, Kiyoshi Kasai, Shunzo Chiba, Mutsuo Naganuma, Keiichi Uyemura, Kiyoshi Hayasaka

Journal:

Journal of the Neurological Sciences

Year:

1994

Language:

english

File:

PDF, 804 KB

english, 1994

38

Expression of myotonic dystrophy protein kinase in biopsied muscles

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Sunzo Chiba, Koukichi Kikuchi

Journal:

Journal of the Neurological Sciences

Year:

1995

Language:

english

File:

PDF, 1.98 MB

english, 1995

39

Neurologic manifestations and molecular basis of group A xeroderma pigmentosum

Takashi Mimaki, Akira Nagai, Kiyoji Tanaka, Ryoji Minami, Nobutada Tachi, Makoto Mino

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 121 KB

english, 1994

40

Ullrich disease

Kimio Sasaki, Satoshi Tsugawa, Nobutada Tachi, Sadao Sugiyama, Kimio Minagawa, Ryoji Minami

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 122 KB

english, 1994

41

Congenital muscular dystrophy with partial deficiency of merosin

Nobutada Tachi, Shigeki Kamimura, Kazuhiro Ohya, Shunzo Chiba, Kimio Sasaki

Journal:

Journal of the Neurological Sciences

Year:

1997

Language:

english

File:

PDF, 274 KB

english, 1997

42

Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba, Kimio Sasaki

Journal:

Journal of the Neurological Sciences

Year:

1997

Language:

english

File:

PDF, 485 KB

english, 1997

43

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype

Nobutada Tachi, Naoki Kozuka, Kazuhiro Ohya, Shunzo Chiba, Sumimasa Yamashita

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 661 KB

english, 1998

44

Benign Partial Epilepsy with Affective Symptoms: Hyperkinetic Behavior During Interictal Periods

Shuji Wakai, Yuko Yoto, Yoshihito Higashidate, Nobutada Tachi, Shunzo Chiba

Journal:

Year:

1994

Language:

english

File:

PDF, 353 KB

english, 1994

45

Rett syndrome: findings suggesting axonopathy and mitochondrial abnormalities

Wakai, Shuji, Kameda, Keiji, Ishikawa, Yukitoshi, Miyamoto, Seiji, Nagaoka, Masato, Okabe, Minoru, Minami, Ryoji, Tachi, Nobutada

Journal:

Pediatric Neurology

Year:

1990

Language:

english

File:

PDF, 5.84 MB

english, 1990

46

Glycogen storage disease with normal acid maltase: Skeletal and cardiac muscles

Tachi, Nobutada, Tachi, Mutsuko, Sasaki, Kimio, Tomita, Hideshi, Wakai, Shuji, Annaka, Shunpei, Minami, Ryoji, Tsurui, Satoshi, Sugie, Hideo

Journal:

Pediatric Neurology

Year:

1989

Language:

english

File:

PDF, 702 KB

english, 1989

47

Mosaic pattern of dystrophins in Duchenne muscular dystrophy

Tachi, Nobutada, Sasaki, Kimio, Yamada, Tomoko, Imamura, Shigetaka, Mike, Teruhisa

Journal:

Pediatric Neurology

Year:

1990

Language:

english

File:

PDF, 756 KB

english, 1990

48

Childhood multiple sclerosis: MR images and clinical variations in four Japanese cases

Wakai, Shuji, Watanabe, Yukie, Ichiki, Takahiro, Watanabe, Toshihide, Numata, Kazuko, Tachi, Nobutada, Matsumoto, Hiroyuki, Chiba, Shunzo

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 748 KB

english, 1994

49

NOTES, COMMENTS, AND ABSTRACTS

Wakai, Shuji, Watanabe, Yukie, Ichiki, Takahiro, Watanabe, Toshihide, Numata, Kazuko, Tachi, Nobutada, Matsumoto, Hiroyuki, Chiba, Shunzo

Journal:

Year:

1933

Language:

english

File:

PDF, 611 KB

english, 1933

50

Demyelinating peripheral neuropathy in cockayne syndrome: a histopathologic and morphometric study

Sasaki, Kimio, Tachi, Nobutada, Shinoda, Minoru, Satoh, Norihiro, Minami, Ryoji, Ohnishi, Akio

Journal:

Brain and Development

Year:

1992

Language:

english

File:

PDF, 1.75 MB

english, 1992

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