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1

Genetics and Pathophysiology of Primary Dystonia with Special Emphasis on DYT1 and DYT5

Segawa, Masaya, Nomura, Yoshiko

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 228 KB

english, 2014

2

Rett syndrome—Clinical studies and pathophysiological consideration

Nomura, Yoshiko, Segawa, Masaya, Hasegawa, Masako

Journal:

Brain and Development

Year:

1984

Language:

english

File:

PDF, 1.13 MB

english, 1984

3

Rett syndrome

Segawa, Masaya, Nomura, Yoshiko

Journal:

Current Opinion in Neurology

Year:

2005

Language:

english

File:

PDF, 125 KB

english, 2005

4

The Development of Sleep-Wakefulness Rhythm in Normal Infants and Young Children.

MA, GANG, SEGAWA, MASAYA, NOMURA, YOSHIKO, KONDO, YOKO, YANAGITANI, MACHIKO, HIGURASHI, MAKOTO

Journal:

The Tohoku Journal of Experimental Medicine

Year:

1993

Language:

english

File:

PDF, 1.22 MB

english, 1993

5

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Ichinose, Hiroshi, Ohye, Tamae, Takahashi, Ei-ichi, Seki, Naohiko, Hori, Tada-aki, Segawa, Masaya, Nomura, Yoshiko, Endo, Kotaro, Tanaka, Hajime, Tsuji, Shoji

Journal:

Nature Genetics

Year:

1994

File:

PDF, 889 KB

1994

6

Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome: pathophysiological consideration

Yoshiko Nomura, Hideki Fukuda, Yasuo Terao, Okihide Hikosaka, Masaya Segawa

Journal:

Brain and Development

Year:

2003

Language:

english

File:

PDF, 709 KB

english, 2003

7

Trial of a Minimum Dosis of L-Dopa (0.5 mg/kg/day) on Intractable Epilepsy Associated with Tuberous Sclerosis

Akira Uchiyama, Yoshiko Nomura, Masaya Segawa

Journal:

Psychiatry and Clinical Neurosciences

Year:

1988

Language:

english

File:

PDF, 120 KB

english, 1988

8

1-P-E-6. Saccade abnormalities in multiple system atrophy – Comparison between MSA-C and MSA-P

Terao, Yasuo, Fukuda, Hideki, Tokushige, Shinnichi, Terada, Satomi, Yugeta, Akihiro, Hanajima, Ritsuko, Nomura, Yoshiko, Segawa, Masaya, Ugawa, Yoshikazu, Tsuji, Shoji

Journal:

Clinical Neurophysiology

Year:

2015

Language:

english

File:

PDF, 34 KB

english, 2015

9

Supersensitivity to substance P after dorsal root section

Yoshihiro Nakata, Yoshiko Kusaka, Tomio Segawa

Journal:

Year:

1979

Language:

english

File:

PDF, 192 KB

english, 1979

10

Genetic studies on hereditary progressive dystonia with marked diurnal fluctuation

Masaya Segawa, Yoshiko Nomura, Hajime Tanaka, Kohtaro Endo, Shoji Tsuji

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 122 KB

english, 1994

11

Children’s ability to copy triangular figures is affected by their sleep-wakefulness rhythms

Miyuki SUZUKI, Takahiro NAKAMURA, Jun KOHYAMA, Yoshiko NOMURA, Masaya SEGAWA

Journal:

Sleep and Biological Rhythms

Year:

2005

Language:

english

File:

PDF, 92 KB

english, 2005

12

Polysomnography—Functional topographical examination of the basal ganglia

Segawa, Masaya, Nomura, Yoshiko, Hakamada, Susumu, Nagata, Eiko, Sakamoto, Mitsuo, Oka, Nanae

Journal:

Brain and Development

Year:

1986

Language:

english

File:

PDF, 780 KB

english, 1986

13

Distortion of HLA gene transmission in childhood-onset myasthenia gravis

Matsuki, Kazumasa, Maeda, Hiroo, Nomura, Yoshiko, Segawa, Masaya

Journal:

Year:

1992

Language:

english

File:

PDF, 175 KB

english, 1992

14

Childhood Myasthenia Gravis in Japan—Clinical Analysis of 184 Cases at Segawa Neurological Clinic for Children for 30 Years

Nomura, Yoshiko, Hachimori, Kei, Nagao, Yuri, Segawa, Masami, Kimura, Kazue, Segawa, Masaya

Journal:

Neuro-Ophthalmology

Year:

2007

Language:

english

File:

PDF, 1.17 MB

english, 2007

15

Dopa-Responsive Dystonia Is Caused by Particular Impairment of Nigrostriatal Dopamine Neurons Different from Those Involved in Parkinson Disease: Evidence Observed in Studies on Segawa Disease

Segawa, Masaya, Nomura, Yoshiko, Hayashi, Masaharu

Journal:

Neuropediatrics

Year:

2013

Language:

english

File:

PDF, 440 KB

english, 2013

16

Preface

Masaya Segawa, Toyojiro Matsuishi, Yoshiko Nomura

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 36 KB

english, 2001

17

Effects of neurosurgical treatment on diffuse slow spike and wave complex: A case of left frontal mass lesion with diffuse slow spike and wave complex (DSSW)

Honda, Kazue, Shinomiya, Noriaki, Nomura, Yoshiko, Sato, Kiyoshi, Segawa, Masaya

Journal:

Brain and Development

Year:

1985

Language:

english

File:

PDF, 1.28 MB

english, 1985

18

Development of language in Rett syndrome

June Uchino, Michiyo Suzuki, Kyoko Hoshino, Yoshiko Nomura, Masaya Segawa

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 137 KB

english, 2001

19

Fukuyama type Congenital Muscular Dystrophy as a natural model of childhood epilepsy

Segawa, Masaya, Nomura, Yoshiko, Hachimori, Kei, Shinoyama, Noriaki, Hosaka, Akiko, Mizuno, Yoshihiko

Journal:

Brain and Development

Year:

1979

Language:

english

File:

PDF, 495 KB

english, 1979

20

Neuropharmacological studies on substance P in the central nervous system

Segawa, Tomio, Nakata, Yoshihiro, Kusaka, Yoshiko

Journal:

Neuroscience Letters

Year:

1979

Language:

english

File:

PDF, 126 KB

english, 1979

21

Regulation of intestinal Na+-dependent phosphate co-transporters by a low-phosphate diet and 1,25-dihydroxyvitamin D3

KATAI, Kanako, MIYAMOTO, Ken-ichi, KISHIDA, Satie, SEGAWA, Hiroko, NII, Tomoko, TANAKA, Hiroko, TANI, Yoshiko, ARAI, Hidekazu, TATSUMI, Sawako, MORITA, Kyoko, TAKETANI, Yutaka, TAKEDA, Eiji

Journal:

Biochemical Journal

Year:

1999

Language:

english

File:

PDF, 262 KB

english, 1999

22

The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy

Satoko Kumada, Kuniaki Tsuchiya, Mafuyu Takahashi, Masaro Takesue, Hidetoshi Shiotsu, Yoshiko Nomura, Masaya Segawa, Kenji Ikeda, Masaharu Hayashi

Journal:

Acta Neuropathologica

Year:

2000

Language:

english

File:

PDF, 1.39 MB

english, 2000

23

Active Uptake of Substance P Carboxy-Terminal Heptapeptide (5–11) into Rat Brain and Rabbit Spinal Cord Slices

Yoshihiro Nakata, Yoshiko Kusaka, Haruaki Yajima, Tomio Segawa

Journal:

Journal of Neurochemistry

Year:

1981

Language:

english

File:

PDF, 491 KB

english, 1981

24

PS-59-6 Myoclonus in generalized epilepsy in childhood

Kazue Kimura, Yoshiko Nomura, Masaya Segawa

Journal:

Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control

Year:

1995

Language:

english

File:

PDF, 248 KB

english, 1995

25

Influence of non-inherited maternal HLA on disease development

Matsuki, Kazumasa, Maeda, Hiroo, Nomura, Yoshiko, Segawa, Masaya, Mccallum, R.W.

Journal:

Year:

1993

Language:

english

File:

PDF, 385 KB

english, 1993

26

Initiation and inhibitory control of saccades with the progression of Parkinson's disease – Changes in three major drives converging on the superior colliculus

Yasuo Terao, Hideki Fukuda, Akihiro Yugeta, Okihide Hikosaka, Yoshiko Nomura, Masaya Segawa, Ritsuko Hanajima, Shoji Tsuji, Yoshikazu Ugawa

Journal:

Neuropsychologia

Year:

2011

Language:

english

File:

PDF, 1.63 MB

english, 2011

27

Methyl CpG-Binding Protein 2 (a Mutation of Which Causes Rett Syndrome) Directly Regulates Insulin-Like Growth Factor Binding Protein 3 in Mouse and Human Brains

Itoh, Masayuki, Ide, Shuhei, Takashima, Sachio, Kudo, Shinichi, Nomura, Yoshiko, Segawa, Masaya, Kubota, Takeo, Mori, Hideo, Tanaka, Shigeki, Horie, Hiroshi, Tanabe, Yuzo, Goto, Yu-ichi

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2007

Language:

english

File:

PDF, 279 KB

english, 2007

28

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems

Shinichi Kudo, Yoshiko Nomura, Masaya Segawa, Naoyuki Fujita, Mitsuyoshi Nakao, Joanna Dragich, Carolyn Schanen, Masahide Tamura

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 344 KB

english, 2001

29

Functional Abnormalities in Helper and Suppressor of T-cells in Myasthenia Gravis of Children

Noriaki Shinomiya, Yoshiko Nomura, Masaya Segawa, Junichi Yata

Journal:

Pediatrics International

Year:

1980

Language:

english

File:

PDF, 49 KB

english, 1980

30

Three Cases with Secondary Generalized Epilepsy Caused by Frontal Organic Lesion

Sumimasa Yamashita, Yoshiko Nomura, Masaya Segawa

Journal:

Psychiatry and Clinical Neurosciences

Year:

1989

Language:

english

File:

PDF, 141 KB

english, 1989

31

75. Latency distributions of various saccade tasks performed by patients with Parkinson’s disease

Yasuo Terao, Hideki Fukuda, Akihiro Yugeta, Ritsuko Hanajima, Shoji Tsuji, Yoshiko Nomura, Masaya Segawa, Yoshikazu Ugawa

Journal:

Clinical Neurophysiology

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

32

Rett syndrome—An early catecholamine and indolamine deficient disorder?

Nomura, Yoshiko, Segawa, Masaya, Higurashi, Makoto

Journal:

Brain and Development

Year:

1985

Language:

english

File:

PDF, 1.10 MB

english, 1985

33

Pre-movement gating of somatosensory evoked potentials in Segawa disease

Kimura, Kazue, Nagao, Yuri, Hachimori, Kei, Hayashi, Masaharu, Nomura, Yoshiko, Segawa, Masaya

Journal:

Brain and Development

Year:

2016

Language:

english

File:

PDF, 676 KB

english, 2016

34

Increased muscle action potentials by 5 Hz prolonged nerve stimulation in neurological and neuromuscular disorders—clinical usefulness for detecting underlying pathophysiology

Hakamada, Susumu, Segawa, Masaya, Nomura, Yoshiko, Nagata, Eiko, Okamoto, Yuko, Saito, Seiichi

Journal:

Brain and Development

Year:

1984

Language:

english

File:

PDF, 853 KB

english, 1984

35

Clinical features of the early stage of the Rett syndrome

Nomura, Yoshiko, Segawa, Masaya

Journal:

Brain and Development

Year:

1990

Language:

english

File:

PDF, 419 KB

english, 1990

36

Substance P: Regional distribution and specific binding to synaptic membranes in rabbit central nervous system

Yoshihiro Nakata, Yoshiko Kusaka, Tomio Segawa, Haruaki Yajima, Kouki Kitagawa

Journal:

Year:

1978

Language:

english

File:

PDF, 399 KB

english, 1978

37

The pathophysiology of the Rett syndrome from the standpoint of polysomnography

Segawa, Masaya, Nomura, Yoshiko

Journal:

Brain and Development

Year:

1990

Language:

english

File:

PDF, 882 KB

english, 1990

38

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III

Yasuo Terao, Hirotomo Saitsu, Masaya Segawa, Yukiko Kondo, Kiwako Sakamoto, Naomichi Matsumoto, Shoji Tsuji, Yoshiko Nomura

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 630 KB

english, 2012

39

Pathophysiology of rett syndrome

Nomura, Yoshiko, Honda, Kazue, Segawa, Masaya

Journal:

Brain and Development

Year:

1987

Language:

english

File:

PDF, 3.02 MB

english, 1987

40

Deterioration of horizontal saccades in progressive supranuclear palsy

Terao, Yasuo, Fukuda, Hideki, Shirota, Yuichiro, Yugeta, Akihiro, Yoshioka, Masayuki, Suzuki, Masahiko, Hanajima, Ritsuko, Nomura, Yoshiko, Segawa, Masaya, Tsuji, Shoji, Ugawa, Yoshikazu

Journal:

Clinical Neurophysiology

Year:

2013

Language:

english

File:

PDF, 1.53 MB

english, 2013

41

Molecular and cellular regulation of renal phosphate transporters in X-linked hypophosphatemia

Ken-ichi Miyamoto, Yutaka Taketani, Kyoko Morita, Hiroko Segawa, Tomoko Nii, Ai Fujioka, Shinsuke Kido, Hidekazu Arai, Yoshiko Tani, Kanako Katai, Sawako Tatsumi, Eiji Takeda

Journal:

Clinical and Experimental Nephrology

Year:

1998

Language:

english

File:

PDF, 585 KB

english, 1998

42

Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in theTOR1A(DYT1) gene

Takeshi Ikeuchi, Yoshiko Nomura, Masaya Segawa, Laurie J. Ozelius, Takayoshi Shimohata, Shoji Tsuji

Journal:

Year:

2002

Language:

english

File:

PDF, 187 KB

english, 2002

43

Epilepsy in autism: A pathophysiological consideration

Yoshiko Nomura, Yuri Nagao, Kazue Kimura, Kei Hachimori, Masaya Segawa

Journal:

Brain and Development

Year:

2010

Language:

english

File:

PDF, 315 KB

english, 2010

44

A variant of childhood-onset myasthenia gravis: HLA typing and clinical characteristics in Japan

Noriaki Shinomiya, Yoshiko Nomura, Masaya Segawa

Journal:

Clinical Immunology

Year:

2004

Language:

english

File:

PDF, 197 KB

english, 2004

45

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis

Kenji Amano, Yoshiko Nomura, Masaya Segawa, Kazuhiro Yamakawa

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 125 KB

english, 2001

46

Studies of body movements during night sleep in infancy

Fukumoto, Mikiko, Mochizuki, Nobuko, Takeishi, Masahiro, Nomura, Yoshiko, Segawa, Masaya

Journal:

Brain and Development

Year:

1981

Language:

english

File:

PDF, 512 KB

english, 1981

47

Regulation of intestinal Na+-dependent phosphate co-transporters by a low-phosphate diet and 1,25-dihydroxyvitamin D3

KATAI, Kanako, MIYAMOTO, Ken-ichi, KISHIDA, Satie, SEGAWA, Hiroko, NII, Tomoko, TANAKA, Hiroko, TANI, Yoshiko, ARAI, Hidekazu, TATSUMI, Sawako, MORITA, Kyoko, TAKETANI, Yutaka, TAKEDA, Eiji

Journal:

Biochemical Journal

Year:

1999

Language:

english

File:

PDF, 262 KB

english, 1999

48

Video analysis of gross body movements during sleep

MASAYUKI SHIMOHIRA, TOSHIHIDE SHIIKI, JUNKO SUGIMOTO, YUKIKO OHSAWA, MICHIO FUKUMIZU, TAKESHI HASEGAWA, YOSHIHIDE IWAKAWA, YOSHIKO NOMURA, MASAYA SEGAWA

Journal:

Psychiatry and Clinical Neurosciences

Year:

1998

Language:

english

File:

PDF, 165 KB

english, 1998

49

Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) – pathophysiological consideration

Yoshiko Nomura, Takeshi Ikeuchi, Shoji Tsuji, Masaya Segawa

Journal:

Brain and Development

Year:

2000

Language:

english

File:

PDF, 599 KB

english, 2000

50

Molecular events involved in up-regulating human Na+-independent neutral amino acid transporter LAT1 during T-cell activation

NII, Tomoko, SEGAWA, Hiroko, TAKETANI, Yutaka, TANI, Yoshiko, OHKIDO, Makiko, KISHIDA, Sachie, ITO, Mikiko, ENDOU, Hitoshi, KANAI, Yoshikatsu, TAKEDA, Eiji, MIYAMOTO, Ken-ichi

Journal:

Biochemical Journal

Year:

2001

Language:

english

File:

PDF, 436 KB

english, 2001

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