共 53 条
[21]
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
[J].
Kato, Mitsuhiro
;
Saitoh, Shinji
;
Kamei, Atsushi
;
Shiraishi, Hideaki
;
Ueda, Yuki
;
Akasaka, Manami
;
Tohyama, Jun
;
Akasaka, Noriyuki
;
Hayasaka, Kiyoshi
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 81 (02)
:361-366

Kato, Mitsuhiro
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

Saitoh, Shinji
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

Kamei, Atsushi
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

Shiraishi, Hideaki
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

论文数: 引用数:
h-index:
机构:

Akasaka, Manami
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

Tohyama, Jun
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

Akasaka, Noriyuki
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan

Hayasaka, Kiyoshi
论文数: 0 引用数: 0
h-index: 0
机构: Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan
[22]
De Novo Mutations in SLC35A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy
[J].
Kodera, Hirofumi
;
Nakamura, Kazuyuki
;
Osaka, Hitoshi
;
Maegaki, Yoshihiro
;
Haginoya, Kazuhiro
;
Mizumoto, Shuji
;
Kato, Mitsuhiro
;
Okamoto, Nobuhiko
;
Iai, Mizue
;
Kondo, Yukiko
;
Nishiyama, Kiyomi
;
Tsurusaki, Yoshinori
;
Nakashima, Mitsuko
;
Miyake, Noriko
;
Hayasaka, Kiyoshi
;
Sugahara, Kazuyuki
;
Yuasa, Isao
;
Wada, Yoshinao
;
Matsumoto, Naomichi
;
Saitsu, Hirotomo
.
HUMAN MUTATION,
2013, 34 (12)
:1708-1714

Kodera, Hirofumi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

论文数: 引用数:
h-index:
机构:

Osaka, Hitoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Maegaki, Yoshihiro
论文数: 0 引用数: 0
h-index: 0
机构:
Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Haginoya, Kazuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Sch Med, Dept Pediat, Aoba Ku, Sendai, Miyagi 9808574, Japan
Takuto Rehabil Ctr Children, Dept Pediat Neurol, Taihaku Ku, Sendai, Miyagi 9820241, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Mizumoto, Shuji
论文数: 0 引用数: 0
h-index: 0
机构:
Hokkaido Univ, Grad Sch Life Sci, Lab Proteoglycan Signaling & Therapeut, Frontier Res Ctr Postgenom Sci & Technol, Sapporo, Hokkaido 0010021, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Kato, Mitsuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Yamagata Univ, Sch Med, Dept Pediat, Yamagata 9909585, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Okamoto, Nobuhiko
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Med Ctr & Res Inst Maternal & Child Hlth, Dept Med Genet, Izumi, Osaka 5941101, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Iai, Mizue
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Kondo, Yukiko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Nishiyama, Kiyomi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Tsurusaki, Yoshinori
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Nakashima, Mitsuko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Miyake, Noriko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Hayasaka, Kiyoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Yamagata Univ, Sch Med, Dept Pediat, Yamagata 9909585, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Sugahara, Kazuyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Hokkaido Univ, Grad Sch Life Sci, Lab Proteoglycan Signaling & Therapeut, Frontier Res Ctr Postgenom Sci & Technol, Sapporo, Hokkaido 0010021, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Yuasa, Isao
论文数: 0 引用数: 0
h-index: 0
机构:
Tottori Univ, Div Legal Med, Fac Med, Yonago, Tottori 6838503, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Wada, Yoshinao
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Med Ctr & Res Inst Maternal & Child Hlth, Dept Mol Med, Izumi, Osaka 5941101, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

Matsumoto, Naomichi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

论文数: 引用数:
h-index:
机构:
[23]
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
[J].
Lemke, Johannes R.
;
Riesch, Erik
;
Scheurenbrand, Tim
;
Schubach, Max
;
Wilhelm, Christian
;
Steiner, Isabelle
;
Hansen, Joerg
;
Courage, Carolina
;
Gallati, Sabina
;
Buerki, Sarah
;
Strozzi, Susi
;
Simonetti, Barbara Goeggel
;
Grunt, Sebastian
;
Steinlin, Maja
;
Alber, Michael
;
Wolff, Markus
;
Klopstock, Thomas
;
Prott, Eva C.
;
Lorenz, Ruediger
;
Spaich, Christiane
;
Rona, Sabine
;
Lakshminarasimhan, Maya
;
Kroell, Judith
;
Dorn, Thomas
;
Kraemer, Guenter
;
Synofzik, Matthis
;
Becker, Felicitas
;
Weber, Yvonne G.
;
Lerche, Holger
;
Boehm, Detlef
;
Biskup, Saskia
.
EPILEPSIA,
2012, 53 (08)
:1387-1398

Lemke, Johannes R.
论文数: 0 引用数: 0
h-index: 0
机构:
Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Riesch, Erik
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Scheurenbrand, Tim
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Schubach, Max
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Wilhelm, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Steiner, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Hansen, Joerg
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Courage, Carolina
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Gallati, Sabina
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Buerki, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Inselspital Bern, Univ Childrens Hosp, Div Neuropediat, CH-3010 Bern, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Strozzi, Susi
论文数: 0 引用数: 0
h-index: 0
机构:
Inselspital Bern, Univ Childrens Hosp, Div Neuropediat, CH-3010 Bern, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Simonetti, Barbara Goeggel
论文数: 0 引用数: 0
h-index: 0
机构:
Inselspital Bern, Univ Childrens Hosp, Div Neuropediat, CH-3010 Bern, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Grunt, Sebastian
论文数: 0 引用数: 0
h-index: 0
机构:
Inselspital Bern, Univ Childrens Hosp, Div Neuropediat, CH-3010 Bern, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Steinlin, Maja
论文数: 0 引用数: 0
h-index: 0
机构:
Inselspital Bern, Univ Childrens Hosp, Div Neuropediat, CH-3010 Bern, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Alber, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Tubingen, Dept Neuropediat, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Wolff, Markus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Tubingen, Dept Neuropediat, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Klopstock, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Prott, Eva C.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Prenatal Med & Human Genet, Wuppertal, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Lorenz, Ruediger
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Spaich, Christiane
论文数: 0 引用数: 0
h-index: 0
机构:
Olga Hosp, Inst Clin Genet, Stuttgart, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Rona, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Dept Neurosurg, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Lakshminarasimhan, Maya
论文数: 0 引用数: 0
h-index: 0
机构:
Swiss Epilepsy Ctr, Zurich, Switzerland Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Kroell, Judith
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Dorn, Thomas
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Kraemer, Guenter
论文数: 0 引用数: 0
h-index: 0
机构: Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Synofzik, Matthis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Dept Neurodegenerat, Hertie Inst Clin Brain Res, Tubingen, Germany
Univ Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Becker, Felicitas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Weber, Yvonne G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Lerche, Holger
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Boehm, Detlef
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland

Biskup, Saskia
论文数: 0 引用数: 0
h-index: 0
机构:
CeGaT GmbH, Tubingen, Germany Inselspital Bern, Univ Childrens Hosp, Dept Human Genet, Div Human Genet, CH-3010 Bern, Switzerland
[24]
Spectrins: A structural platform for stabilization and activation of membrane channels, receptors and transporters
[J].
Machnicka, Beata
;
Czogalla, Aleksander
;
Hryniewicz-Jankowska, Anita
;
Boguslawska, Dzamila M.
;
Grochowalska, Renata
;
Heger, Elzbieta
;
Sikorski, Aleksander F.
.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES,
2014, 1838 (02)
:620-634

Machnicka, Beata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zielona Gora, Fac Biol Sci, Zielona Gora, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland

Czogalla, Aleksander
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland

Hryniewicz-Jankowska, Anita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland

Boguslawska, Dzamila M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zielona Gora, Fac Biol Sci, Zielona Gora, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland

Grochowalska, Renata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zielona Gora, Fac Biol Sci, Zielona Gora, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland

Heger, Elzbieta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zielona Gora, Fac Biol Sci, Zielona Gora, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland

Sikorski, Aleksander F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland Univ Wroclaw, Biotechnol Fac, PL-50138 Wroclaw, Poland
[25]
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
[J].
Martin, Hilary C.
;
Kim, Grace E.
;
Pagnamenta, Alistair T.
;
Murakami, Yoshiko
;
Carvill, Gemma L.
;
Meyer, Esther
;
Copley, Richard R.
;
Rimmer, Andrew
;
Barcia, Giulia
;
Fleming, Matthew R.
;
Kronengold, Jack
;
Brown, Maile R.
;
Hudspith, Karl A.
;
Broxholme, John
;
Kanapin, Alexander
;
Cazier, Jean-Baptiste
;
Kinoshita, Taroh
;
Nabbout, Rima
;
Bentley, David
;
McVean, Gil
;
Heavin, Sinead
;
Zaiwalla, Zenobia
;
McShane, Tony
;
Mefford, Heather C.
;
Shears, Deborah
;
Stewart, Helen
;
Kurian, Manju A.
;
Scheffer, Ingrid E.
;
Blair, Edward
;
Donnelly, Peter
;
Kaczmarek, Leonard K.
;
Taylor, Jenny C.
.
HUMAN MOLECULAR GENETICS,
2014, 23 (12)
:3200-3211

Martin, Hilary C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Kim, Grace E.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Pagnamenta, Alistair T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Murakami, Yoshiko
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Microbial Dis Res Inst, Dept Immunoregulat, Osaka, Japan Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Carvill, Gemma L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Meyer, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Child Hlth, Neurosci Unit, London, England
Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Copley, Richard R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Rimmer, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Barcia, Giulia
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Ctr Reference Epilepsies Rares, Dept Paediat Neurol, Paris, France Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Fleming, Matthew R.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Kronengold, Jack
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Brown, Maile R.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Hudspith, Karl A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Broxholme, John
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Kanapin, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Cazier, Jean-Baptiste
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Kinoshita, Taroh
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Microbial Dis Res Inst, Dept Immunoregulat, Osaka, Japan Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Nabbout, Rima
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Ctr Reference Epilepsies Rares, Dept Paediat Neurol, Paris, France Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Bentley, David
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, San Diego, CA USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

McVean, Gil
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Heavin, Sinead
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Austin Hlth, Florey Inst, Dept Med, Melbourne, Vic, Australia
Univ Melbourne, Austin Hlth, Florey Inst, Dept Paediat, Melbourne, Vic, Australia
Royal Childrens Hosp, Melbourne, Vic, Australia Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Zaiwalla, Zenobia
论文数: 0 引用数: 0
h-index: 0
机构:
John Radcliffe Hosp, Dept Clin Neurophysiol, Oxford OX3 9DU, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

McShane, Tony
论文数: 0 引用数: 0
h-index: 0
机构:
John Radcliffe Hosp, Dept Paediat, Childrens Hosp Oxford, Oxford OX3 9DU, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Mefford, Heather C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Shears, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Stewart, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Kurian, Manju A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Child Hlth, Neurosci Unit, London, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Austin Hlth, Florey Inst, Dept Med, Melbourne, Vic, Australia
Univ Melbourne, Austin Hlth, Florey Inst, Dept Paediat, Melbourne, Vic, Australia
Royal Childrens Hosp, Melbourne, Vic, Australia Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Blair, Edward
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Donnelly, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Kaczmarek, Leonard K.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06510 USA
Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

Taylor, Jenny C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
NIHR Biomed Res Ctr, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
[26]
Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
[J].
Mastrangelo, Mario
;
Leuzzi, Vincenzo
.
PEDIATRIC NEUROLOGY,
2012, 46 (01)
:24-31

Mastrangelo, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, Div Child Neurol, I-00185 Rome, Italy Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, Div Child Neurol, I-00185 Rome, Italy

Leuzzi, Vincenzo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, Div Child Neurol, I-00185 Rome, Italy Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, Div Child Neurol, I-00185 Rome, Italy
[27]
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy
[J].
Mastrangelo, Massimo
;
Peron, Angela
;
Spaccini, Luigina
;
Novara, Francesca
;
Scelsa, Barbara
;
Introvini, Paola
;
Raviglione, Federico
;
Faiola, Stefano
;
Zuffardi, Orsetta
.
EPILEPTIC DISORDERS,
2013, 15 (01)
:55-61

Mastrangelo, Massimo
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

Peron, Angela
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Clin Genet Serv, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

Spaccini, Luigina
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Clin Genet Serv, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

论文数: 引用数:
h-index:
机构:

Scelsa, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

Introvini, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Div Neonatol, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

Raviglione, Federico
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

Faiola, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, ICP, Fetal Therapy Unit, Dept Obstet, Milan, Italy V Buzzi Childrens Hosp, ICP, Pediat Neurol Unit, Milan, Italy

论文数: 引用数:
h-index:
机构:
[28]
A mutant αII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo
[J].
Meary, Fleur
;
Metral, Sylvain
;
Ferreira, Chrystophe
;
Eladari, Dominique
;
Colin, Yves
;
Lecomte, Marie-Christine
;
Nicolas, Gael
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2007, 282 (19)
:14226-14237

Meary, Fleur
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France

Metral, Sylvain
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France

Ferreira, Chrystophe
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France

Eladari, Dominique
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France

Colin, Yves
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France

Lecomte, Marie-Christine
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France

Nicolas, Gael
论文数: 0 引用数: 0
h-index: 0
机构: Inst Natl Transfus Sanguine, INSERM, U665, F-75015 Paris, France
[29]
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
[J].
Mignot, Cyril
;
Moutard, Marie-Laure
;
Trouillard, Oriane
;
Gourfinkel-An, Isabelle
;
Jacquette, Aurelia
;
Arveiler, Benoit
;
Morice-Picard, Fanny
;
Lacombe, Didier
;
Chiron, Catherine
;
Ville, Dorothee
;
Charles, Perrine
;
LeGuern, Eric
;
Depienne, Christel
;
Heron, Delphine
.
EPILEPSIA,
2011, 52 (10)
:1820-1827

Mignot, Cyril
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France
Hop Armand Trousseau, Hosp AP HP, Neuropediat Unit, Paris, France
AP HP, Reference Ctr Intellectual Disabil, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Moutard, Marie-Laure
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Armand Trousseau, Hosp AP HP, Neuropediat Unit, Paris, France
AP HP, Reference Ctr Intellectual Disabil, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Trouillard, Oriane
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Cellular & Mol Neurogenet Unit, Dept Genet & Cytogenet,Mol & Chromosomal Genet Ct, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Gourfinkel-An, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Epileptol Unit, Reference Ctr Rare Epilepsies, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Jacquette, Aurelia
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France
AP HP, Reference Ctr Intellectual Disabil, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Arveiler, Benoit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bordeaux Segalen, CHU Bordeaux, Med Genet Unit, MRGM Lab, Bordeaux, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Morice-Picard, Fanny
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bordeaux Segalen, CHU Bordeaux, Med Genet Unit, MRGM Lab, Bordeaux, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Lacombe, Didier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bordeaux Segalen, CHU Bordeaux, Med Genet Unit, MRGM Lab, Bordeaux, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

论文数: 引用数:
h-index:
机构:

Ville, Dorothee
论文数: 0 引用数: 0
h-index: 0
机构:
Femme Mere Enfant Hosp, Neuropediat Unit, Bron, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Charles, Perrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France
AP HP, Reference Ctr Intellectual Disabil, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

LeGuern, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Cellular & Mol Neurogenet Unit, Dept Genet & Cytogenet,Mol & Chromosomal Genet Ct, Paris, France
Hop La Pitie Salpetriere, INSERM, CRicm U975, Paris, France
UPMC Univ Paris, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Depienne, Christel
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Cellular & Mol Neurogenet Unit, Dept Genet & Cytogenet,Mol & Chromosomal Genet Ct, Paris, France
Hop La Pitie Salpetriere, INSERM, CRicm U975, Paris, France
UPMC Univ Paris, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

Heron, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France
AP HP, Reference Ctr Intellectual Disabil, Paris, France
UPMC Univ Paris, Paris, France Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France
[30]
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
[J].
Molinari, F.
;
Kaminska, A.
;
Fiermonte, G.
;
Boddaert, N.
;
Raas-Rothschild, A.
;
Plouin, P.
;
Palmieri, L.
;
Brunelle, F.
;
Palmieri, F.
;
Dulac, O.
;
Munnich, A.
;
Colleaux, L.
.
CLINICAL GENETICS,
2009, 76 (02)
:188-194

Molinari, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

论文数: 引用数:
h-index:
机构:

Fiermonte, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bari, Dept Pharmacobiol, Biochem & Mol Biol Lab, Bari, Italy Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Boddaert, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Radiol Pediat, U797, Paris, France Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Raas-Rothschild, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Human Genet, Jerusalem, Israel Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Plouin, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Necker Enfants Malad, APHP, Unite Physiol & Explorat Fonct, INSERM,U663, Paris, France Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Palmieri, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bari, Dept Pharmacobiol, Biochem & Mol Biol Lab, Bari, Italy
Inst Biomembranes & Bioenerget, CNR, Bari, Italy Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Brunelle, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Radiol Pediat, U797, Paris, France Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Palmieri, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bari, Dept Pharmacobiol, Biochem & Mol Biol Lab, Bari, Italy
Inst Biomembranes & Bioenerget, CNR, Bari, Italy Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Dulac, O.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, AP HP, INSERM,U663, Paris, France Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

Munnich, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France Univ Paris 05, Lab Genet & Epigenet Malad Metab Neurosensorielle, Hop Necker Enfants Malad, INSERM,U781, Paris, France

论文数: 引用数:
h-index:
机构: