|
🐜
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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
188 auth.
R. Nabbout,
E. Belousova,
M. Benedik,
T. Carter,
V. Cottin,
P. Curatolo,
M. Dahlin,
Lisa D´Amato,
G. B. d'Augères,
P. D. de Vries,
J. Ferreira,
M. Feucht,
C. Fladrowski,
C. Hertzberg,
S. Jóźwiak,
...
J. Lawson,
A. Macaya,
R. Marques,
F. O'callaghan,
J. Qin,
Valentin Sander,
M. Sauter,
Seema Shah,
Yukitoshi Takahashi,
R. Touraine,
S. Youroukos,
B. Zonnenberg,
A. Jansen,
J. C. Kingswood,
N. Shinohara,
S. Horie,
M. Kubota,
J. Tohyama,
K. Imai,
M. Kaneda,
Hideo Kaneko,
Y. Uchida,
Shoichi Endo,
Y. Inoue,
K. Uruno,
A. Serdaroğlu,
Z. Yapıcı,
B. Anlar,
Ş. Altunbaşak,
O. Lvova,
Oleg Valeryevich Belyaev,
O. Agranovich,
Elena Vladislavovna Levitina,
Yulia Vladimirovna Maksimova,
A. Karas,
Yuwu Jiang,
Liping Zou,
Kaifeng Xu,
Yushi Zhang,
G. Luan,
Yuqin Zhang,
Yi Wang,
Meiling Jin,
Dingwei Ye,
Weiping Liao,
Liemin Zhou,
Jie Liu,
J. Liao,
Bo Yan,
Yanchun Deng,
Li Jiang,
Zhi-sheng Liu,
Shaoping Huang,
Hua Li,
Kijoong Kim,
Pei Chen,
Hsiu-Fen Lee,
J. Tsai,
C. Chi,
Chao-Ching Huang,
Kate Riney,
Deborah Yates,
P. Kwan,
S. Likasitwattanakul,
C. Nabangchang,
Lunliya Thampratankul Krisnachai Chomtho,
K. Katanyuwong,
Somjit Sriudomkajorn,
J. Wilmshurst,
R. Segel,
T. Gilboa,
M. Tzadok,
A. Fattal-Valevski,
P. Papathanasopoulos,
Antigone Syrigou Papavasiliou,
S. Giannakodimos,
S. Gatzonis,
E. Pavlou,
M. Tzoufi,
Marc Dhooghe,
H. Verhelst,
F. Roelens,
Marie Cecile Nassogne,
P. Defresne,
Liesbeth De Waele,
P. Leroy,
N. Demonceau,
P. van Bogaert,
B. Ceulemans,
L. Dom,
P. Castelnau,
A. De Saint Martin,
A. Riquet,
M. Milh,
C. Cances,
J. Pedespan,
D. Ville,
A. Roubertie,
S. Auvin,
P. Berquin,
C. Richelme,
Catherine Allaire,
S. Gueden,
S. Nguyen The Tich,
B. Godet,
M. L. Rojas,
Jaume Campistol Planas,
A. Bermejo,
P. S. Durá,
S. R. Aparicio,
M. J. M. González,
J. Pisón,
Manuel Oscar Blanco Barca,
E. Laso,
O. Luengo,
Francisco Javier Aguirre Rodriguez,
I. M. Diéguez,
A. C. Salas,
Itxaso Martí Carrera,
E. Salcedo,
M. Petri,
R. Candela,
I. Carrilho,
J. P. Vieira,
J. Monteiro,
M. Leão,
Catarina Sofia Marceano Ribeiro Luis,
Carla Pires Mendonca,
M. Endzinienė,
J. Strautmanis,
I. Talvik,
M. Canevini,
A. Gambardella,
D. Pruna,
Salvatore Buono,
E. Fontana,
B. Bernardina,
C. Burloiu,
Iuliu Stefan Bacos Cosma,
M. Vințan,
L. Popescu,
K. Zitterbart,
J. Payerova,
L. Bratsky,
Z. Žilinská,
U. Gruber‐Sedlmayr,
E. Haberlandt,
K. Rostásy,
E. Pataraia,
F. Elmslie,
Clare Ann Johnston,
P. Crawford,
P. Uldall,
P. Uvebrant,
Olof Rask,
Marit Bjoernvold,
Andreas Sloerdahl,
Ragnar Solhoff,
M. Jaatun,
M. Mandera,
E. Radzikowska,
M. Wysocki,
M. Fischereder,
G. Kurlemann,
B. Wilken,
A. Wiemer-Kruel,
K. Budde,
K. Marquard,
M. Knuf,
A. Hahn,
H. Hartmann,
A. Merkenschlager,
R. Trollmann
|
7 |
2018 |
7
🐜
|
|
🐜
|
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
193 auth.
P. D. de Vries,
E. Belousova,
M. Benedik,
T. Carter,
V. Cottin,
P. Curatolo,
M. Dahlin,
Lisa D’Amato,
G. B. d'Augères,
J. Ferreira,
M. Feucht,
C. Fladrowski,
C. Hertzberg,
S. Jóźwiak,
J. C. Kingswood,
...
J. Lawson,
A. Macaya,
R. Marques,
R. Nabbout,
F. O'callaghan,
J. Qin,
Valentin Sander,
M. Sauter,
Seema Shah,
Yukitoshi Takahashi,
R. Touraine,
S. Youroukos,
B. Zonnenberg,
A. Jansen,
N. Shinohara,
S. Horie,
Masaya Kubota,
J. Tohyama,
K. Imai,
M. Kaneda,
Hideo Kaneko,
Y. Uchida,
T. Kirino,
Shoichi Endo,
Y. Inoue,
K. Uruno,
A. Serdaroğlu,
Z. Yapıcı,
B. Anlar,
Ş. Altunbaşak,
O. Lvova,
O. Belyaev,
O. Agranovich,
E. Levitina,
Y. Maksimova,
A. Karas,
Yuwu Jiang,
Liping Zou,
Kaifeng Xu,
Yushi Zhang,
G. Luan,
Yuqin Zhang,
Yi Wang,
Meiling Jin,
Dingwei Ye,
Weiping Liao,
Liemin Zhou,
Jiehua Liu,
Jianxiang Liao,
Bo Yan,
Yanchun Deng,
Li Jiang,
Zhisheng Liu,
Shaoping Huang,
Hua Li,
Kijoong Kim,
Pei Chen,
Hsiu-Fen Lee,
J. Tsai,
Ching-Shiang Chi,
Chao Huang,
Kate Riney,
Deborah Yates,
Patrick S L Kwan,
S. Likasitwattanakul,
C. Nabangchang,
Lunliya Thampratankul Krisnachai Chomtho,
K. Katanyuwong,
Somjit Sriudomkajorn,
J. Wilmshurst,
R. Segel,
T. Gilboa,
M. Tzadok,
A. Fattal-Valevski,
P. Papathanasopoulos,
A. Papavasiliou,
S. Giannakodimos,
S. Gatzonis,
E. Pavlou,
M. Tzoufi,
A. Vergeer,
Marc Dhooghe,
H. Verhelst,
F. Roelens,
M. Nassogne,
P. Defresne,
Liesbeth De Waele,
P. Leroy,
N. Demonceau,
B. Legros,
P. van Bogaert,
B. Ceulemans,
L. Dom,
P. Castelnau,
A. De Saint Martin,
A. Riquet,
M. Milh,
C. Cances,
J. Pedespan,
D. Ville,
A. Roubertie,
S. Auvin,
P. Berquin,
C. Richelme,
Catherine Allaire,
S. Gueden,
S. N. Tich,
B. Godet,
M. L. Rojas,
Jaume Campistol Planas,
A. Bermejo,
P. S. Durá,
S. R. Aparicio,
M. J. M. González,
J. Pisón,
Manuel Oscar Blanco Barca,
E. Laso,
Olga Alonso Luengo,
Francisco Javier Aguirre Rodriguez,
I. M. Diéguez,
A. C. Salas,
Itxaso Martí Carrera,
E. Salcedo,
M. Petri,
R. Candela,
Ines da Conceicao Carrilho,
J. P. Vieira,
José Paulo da Silva Oliveira Monteiro,
Miguel Jorge Santos de Oliveira Ferreira Leao,
Catarina Sofia Marceano Ribeiro Luis,
C. Mendonca,
M. Endzinienė,
J. Strautmanis,
I. Talvik,
M. Canevini,
A. Gambardella,
D. Pruna,
Salvatore Buono,
E. Fontana,
B. Bernardina,
C. Burloiu,
Iuliu Stefan Bacos Cosma,
Mihaela Vintan,
L. Popescu,
K. Zitterbart,
J. Payerova,
L. Bratsky,
Z. Žilinská,
U. Gruber‐Sedlmayr,
M. Baumann,
E. Haberlandt,
K. Rostásy,
E. Pataraia,
F. Elmslie,
C. Johnston,
P. Crawford,
P. Uldall,
P. Uvebrant,
Olof Rask,
Marit Bjoernvold,
E. Brodtkorb,
Andreas Sloerdahl,
Ragnar Solhoff,
M. Jaatun,
M. Mandera,
E. Radzikowska,
M. Wysocki,
M. Fischereder,
G. Kurlemann,
Bernd Wilken,
A. Wiemer-Kruel,
K. Budde,
K. Marquard,
M. Knuf,
A. Hahn,
H. Hartmann,
A. Merkenschlager,
R. Trollmann
|
6 |
2018 |
6
🐜
|
|
🐜
|
Germline de novo variants in CSNK2B in Chinese patients with epilepsy
15 auth.
Jinliang Li,
Kai Gao,
Shuying Cai,
Y. Liu,
Yuzhen Wang,
Shaoping Huang,
J. Zha,
Wenjing Hu,
Shujie Yu,
Zhixian Yang,
...
Han Xie,
Huifang Yan,
Jingmin Wang,
Ye Wu,
Yuwu Jiang
|
4 |
2019 |
4
🐜
|
|
🐜
|
Vagus nerve stimulation for pediatric patients with intractable epilepsy between 3 and 6 years of age: study protocol for a double-blind, randomized control trial
26 auth.
T. Ji,
Zhao Yang,
Qingzhu Liu,
J. Liao,
F. Yin,
Yanhui Chen,
L. Zou,
Baomin Li,
Yuxing Gao,
Xiao-mei Shu,
Shaoping Huang,
F. Gao,
Jianmin Liang,
Sufang Lin,
Jing Peng,
...
Shiwei Song,
Jing Wang,
C. Che,
Wenxiu Sun,
Maoqiang Tian,
Lin Yang,
Yi Hua,
Y. Hao,
L. Cai,
Luming Li,
Yuwu Jiang
|
4 |
2019 |
4
🐜
|
|
🐜
|
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
193 auth.
M. Sauter,
E. Belousova,
M. Benedik,
T. Carter,
V. Cottin,
P. Curatolo,
M. Dahlin,
Lisa D’Amato,
G. B. d'Augères,
P. D. de Vries,
J. Ferreira,
M. Feucht,
C. Fladrowski,
C. Hertzberg,
S. Jóźwiak,
...
J. Lawson,
A. Macaya,
R. Marques,
R. Nabbout,
F. O'callaghan,
J. Qin,
Valentin Sander,
Seema Shah,
Yukitoshi Takahashi,
R. Touraine,
S. Youroukos,
B. Zonnenberg,
A. Jansen,
J. C. Kingswood,
N. Shinohara,
S. Horie,
Masaya Kubota,
J. Tohyama,
K. Imai,
M. Kaneda,
Hideo Kaneko,
Y. Uchida,
T. Kirino,
Shoichi Endo,
Y. Inoue,
K. Uruno,
A. Serdaroğlu,
Z. Yapıcı,
B. Anlar,
Ş. Altunbaşak,
O. Lvova,
O. Belyaev,
O. Agranovich,
E. Levitina,
Y. Maksimova,
A. Karas,
Yuwu Jiang,
Liping Zou,
Kaifeng Xu,
Yushi Zhang,
G. Luan,
Yuqin Zhang,
Yi Wang,
Meiling Jin,
Dingwei Ye,
Weiping Liao,
Liemin Zhou,
Jiehua Liu,
Jianxiang Liao,
Bo Yan,
Yanchun Deng,
Li Jiang,
Zhisheng Liu,
Shaoping Huang,
Hua Li,
Kijoong Kim,
Pei Chen,
Hsiu-Fen Lee,
J. Tsai,
Ching-Shiang Chi,
Chao Huang,
Kate Riney,
Deborah Yates,
Patrick S L Kwan,
S. Likasitwattanakul,
C. Nabangchang,
Lunliya Thampratankul Krisnachai Chomtho,
K. Katanyuwong,
Somjit Sriudomkajorn,
J. Wilmshurst,
R. Segel,
T. Gilboa,
M. Tzadok,
A. Valevski,
P. Papathanasopoulos,
A. Papavasiliou,
S. Giannakodimos,
S. Gatzonis,
E. Pavlou,
M. Tzoufi,
A. Vergeer,
Marc Dhooghe,
H. Verhelst,
F. Roelens,
M. Nassogne,
P. Defresne,
Liesbeth De Waele,
P. Leroy,
N. Demonceau,
B. Legros,
P. van Bogaert,
B. Ceulemans,
L. Dom,
P. Castelnau,
A. De Saint Martin,
A. Riquet,
M. Milh,
C. Cances,
J. Pedespan,
D. Ville,
A. Roubertie,
S. Auvin,
P. Berquin,
C. Richelme,
Catherine Allaire,
S. Gueden,
S. N. Tich,
B. Godet,
M. L. Rojas,
Jaume Campistol Planas,
A. Bermejo,
P. S. Durá,
S. R. Aparicio,
M. J. M. González,
J. Pisón,
Manuel Oscar Blanco Barca,
E. Laso,
Olga Alonso Luengo,
Francisco Javier Aguirre Rodriguez,
I. M. Diéguez,
A. C. Salas,
Itxaso Martí Carrera,
E. Salcedo,
M. Petri,
R. Candela,
Ines da Conceicao Carrilho,
J. P. Vieira,
José Paulo da Silva Oliveira Monteiro,
Miguel Jorge Santos de Oliveira Ferreira Leao,
Catarina Sofia Marceano Ribeiro Luis,
C. Mendonca,
M. Endzinienė,
J. Strautmanis,
I. Talvik,
M. Canevini,
A. Gambardella,
D. Pruna,
Salvatore Buono,
E. Fontana,
B. Bernardina,
C. Burloiu,
Iuliu Stefan Bacos Cosma,
M. Vințan,
L. Popescu,
K. Zitterbart,
J. Payerova,
L. Bratsky,
Z. Žilinská,
U. Gruber‐Sedlmayr,
M. Baumann,
E. Haberlandt,
K. Rostásy,
E. Pataraia,
F. Elmslie,
C. Johnston,
P. Crawford,
P. Uldall,
P. Uvebrant,
Olof Rask,
Marit Bjoernvold,
E. Brodtkorb,
Andreas Sloerdahl,
Ragnar Solhoff,
M. Jaatun,
M. Mandera,
E. Radzikowska,
M. Wysocki,
M. Fischereder,
G. Kurlemann,
Bernd Wilken,
A. Wiemer-Kruel,
K. Budde,
K. Marquard,
M. Knuf,
A. Hahn,
H. Hartmann,
A. Merkenschlager,
R. Trollmann
|
4 |
2021 |
4
🐜
|
|
🐜
|
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
97 auth.
M. Weerts,
Kristina Lanko,
Francisco J. Guzmán-Vega,
A. Jackson,
R. Ramakrishnan,
Kelly J. Cardona-Londoño,
Karla A. Peña-Guerra,
Y. van Bever,
B. V. van Paassen,
A. Kievit,
M. V. van Slegtenhorst,
N. Allen,
Caroline M. Kehoe,
H. Robinson,
Lewis Pang,
...
S. Banu,
M. Zaman,
S. Efthymiou,
H. Houlden,
I. Järvelä,
L. Lauronen,
T. Määttä,
I. Schrauwen,
S. Leal,
C. Ruivenkamp,
D. Barge-Schaapveld,
C. Peeters-Scholte,
H. Galehdari,
Neda Mazaheri,
S. Sisodiya,
V. Harrison,
A. Sun,
Jenny M Thies,
L. A. Pedroza,
Y. Lara-Taranchenko,
Ivan K. Chinn,
J. Lupski,
Alexandra Garza-Flores,
J. McGlothlin,
Lin Yang,
Shaoping Huang,
Xiaodong Wang,
T. Jewett,
Gretchen E. Rosso,
Xi Lin,
S. Mohammed,
J. Merritt,
G. Mirzaa,
A. Timms,
Joshua Scheck,
M. Elting,
A. Polstra,
Lauren Schenck,
M. Ruzhnikov,
A. Vetro,
Martino Montomoli,
R. Guerrini,
D. Koboldt,
T. M. Mosher,
M. Pastore,
K. McBride,
Jing Peng,
Z. Pan,
M. Willemsen,
Susanne Koning,
P. Turnpenny,
B. D. de Vries,
C. Gilissen,
R. Pfundt,
M. Lees,
S. Braddock,
K. Klemp,
F. Vansenne,
M. V. van Gijn,
Catherine Quindipan,
M. Deardorff,
J. Austin Hamm,
Abbey M. Putnam,
R. Baud,
L. Walsh,
S. Lynch,
J. Baptista,
R. Person,
K. Monaghan,
Amy Crunk,
Jennifer Keller-Ramey,
A. Reich,
H. Elloumi,
M. Alders,
J. Kerkhof,
H. McConkey,
Sadegheh Haghshenas,
R. Maroofian,
B. Sadikovic,
S. Banka,
S. Arold,
T. S. Barakat
|
4 |
2021 |
4
🐜
|
|
🐜
|
An association study between cathechol-O-methyltransferase gene and mental retardation in the Chinese Han population
8 auth.
Kejin Zhang,
Jianjun Gao,
C. An,
Xiao-cai Gao,
Zi-jian Zheng,
Rui-lin Li,
...
Shaoping Huang,
Fuchang Zhang
|
3 |
2007 |
3
🐜
|
|
🐜
|
Reactive astrocytes increase the expression of P‑gp and Mrp1 via TNF‑α and NF‑κB signaling.
7 auth.
Xue-ying Wang,
Shaoping Huang,
Yongsheng Jiang,
Y. Liu,
Ting-ting Song,
Dan Li,
...
Lin Yang
|
3 |
2017 |
3
🐜
|
