Results 61 to 70 of about 358,265 (351)

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]

, 2018
We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe, Colamartino, Marco, Di Menna, Luisa, Fiori, Elena, Iacovelli, Luisa, Leuzzi, Vincenzo, Nardecchia, Francesca, Nicoletti, Ferdinando, Nistico, Robert, Orlando, Rosamaria, Pascucci, Tiziana, Piccinin, Sonia, Puglisi-Allegra, Stefano   +12 more
core   +2 more sources

Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis

Obstetrics & Gynecology Science, 2019
Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors can cause hemodynamic obstruction.
Hyea Park, Chi-Son Chang, Suk-Joo Choi, S. Oh, C. Roh   +4 more
semanticscholar   +1 more source

Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor [PDF]

, 2015
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB).
Carai, Andrea, Colafati, Giovanna S, Curatolo, Paolo, Diomedi Camassei, Francesca, Ferretti, Elisabetta, Folgiero, Valentina, Lepri, Francesca Romana, Locatelli, Franco, Mastronuzzi, Angela, Miele, Evelina, Moavero, Romina, Po, Agnese, Tornesello, Assunta, Valeriani, Massimiliano, Vigevano, Federico   +14 more
core   +1 more source

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Epilepsia Open, 2018
To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC).
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. Kingswood, Nobuo Shigeo Masaya Jun Katsumi Mari Hideo Yasushi Shoic Shinohara Horie Kubota Tohyama Imai Kaneda Kaneko , 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, Oleg 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, K. Riney, Deborah Yates, P. Kwan, S. Likasitwattanakul, C. Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan 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, L. 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   +188 more
semanticscholar   +1 more source

Sculpting the Future of Bone: The Evolution of Absorbable Materials in Orthopedics

Advanced Materials, EarlyView.
This review summarizes the current status of polymeric, ceramic, and metallic absorbable materials in orthopedic applications, and highlights several innovative strategies designed to enhance mechanical performance, control degradation, and promote bioactivity. We also discuss the progress and translational potential of absorbable materials in treating
Zhao Wang, Zehui Lv, Xuejie Cai, Yingjie Wang, Bo Peng, Haojing Xu, Hualuo Pang, Xingdong Yang, Jiawei Xu, Yixin Bian, Bin Feng, Peng Wen, Yufeng Zheng, Xisheng Weng   +13 more
wiley   +1 more source

Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review

Frontiers in Oncology, 2022
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang, Xinping Zhong, Xuyong Lin, Xuedan Li, Haoyu Tian, Bing Chang, Ying Wang, Jing Tong, Ningning Wang, Dan Li, Xiuli Jin, Die Huang, Yanmeng Wang, Huipeng Cui, Lin Guan, Yiling Li   +15 more
doaj   +1 more source

Long‐term cognitive outcomes in tuberous sclerosis complex

Developmental Medicine & Child Neurology, 2019
To investigate the interdependence between risk factors associated with long‐term intellectual development in individuals with tuberous sclerosis complex (TSC).
C. Tye, F. McEwen, Holan Liang, Lisa Underwood, Emma Woodhouse, E. Barker, F. Sheerin, J. Yates, P. Bolton   +8 more
semanticscholar   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

Epilepsia, 2019
To identify whether abnormal electroencephalography (EEG) connectivity is present before the onset of epileptic spasms (ES) in infants with tuberous sclerosis complex (TSC).
Peter E. Davis, K. Kapur, R. Filip-Dhima, Sara K. Trowbridge, E. Little, Andrew C Wilson, A. Leuchter, E. Bebin, D. Krueger, H. Northrup, Joyce Y. Wu, M. Sahin, J. Peters   +12 more
semanticscholar   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source