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Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible
Goel, Anubhuti, Cantu, Daniel A., Guilfoyle, Janna, Chaudhari, Gunvant R., Newadkar, Aditi, Todisco, Barbara, de Alba, Diego, Kourdougli, Nazim, Schmitt, Lauren M., Pedapati, Ernest, Erickson, Craig A., Portera-Cailliau, Carlos
Published in Nature neuroscience (01.10.2018)
Published in Nature neuroscience (01.10.2018)
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
Jacquemont, Sébastien, Curie, Aurore, des Portes, Vincent, Torrioli, Maria Giulia, Berry-Kravis, Elizabeth, Hagerman, Randi J, Ramos, Feliciano J, Cornish, Kim, He, Yunsheng, Paulding, Charles, Neri, Giovanni, Chen, Fei, Hadjikhani, Nouchine, Martinet, Danielle, Meyer, Joanne, Beckmann, Jacques S, Delange, Karine, Brun, Amandine, Bussy, Gerald, Gasparini, Fabrizio, Hilse, Talita, Floesser, Annette, Branson, Janice, Bilbe, Graeme, Johns, Donald, Gomez-Mancilla, Baltazar
Published in Science translational medicine (05.01.2011)
Published in Science translational medicine (05.01.2011)
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Intersection of the fragile X-related disorders and the DNA damage response
Kumari, Daman, Grant-Bier, Jessalyn, Kadyrov, Farid, Usdin, Karen
Published in DNA repair (01.12.2024)
Published in DNA repair (01.12.2024)
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Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency
Buijsen, R.A.M., Visser, J.A., Kramer, P., Severijnen, E.A.W.F.M., Gearing, M., Charlet-Berguerand, N., Sherman, S.L., Berman, R.F., Willemsen, R., Hukema, R.K.
Published in Human reproduction (Oxford) (01.01.2016)
Published in Human reproduction (Oxford) (01.01.2016)
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Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families
Kasole Lubala, Toni, Kayembe-Kitenge, Tony, Lubala, Nina, Kanteng, Gray, Luboya, Oscar, Hagerman, Randi, Lukusa-Tshilobo, Prosper, Lumaka, Aimé
Published in Clinical dysmorphology (01.01.2024)
Published in Clinical dysmorphology (01.01.2024)
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Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death
Hall, Deborah A., Nag, Sukriti, Ouyang, Bichun, Bennett, David A., Liu, Yuanqing, Ali, Aisha, Zhou, Lili, Berry‐Kravis, Elizabeth
Published in Movement disorders (01.08.2020)
Published in Movement disorders (01.08.2020)
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De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth
An, Yu, Zhang, Linna, Liu, Wenwen, Jiang, Yunyun, Chen, Xue, Lan, Xiaoping, Li, Gan, Hang, Qiang, Wang, Jian, Gusella, James F., Du, Yasong, Shen, Yiping
Published in Human genetics (01.04.2020)
Published in Human genetics (01.04.2020)
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Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome
Hoeffer, C. A., Sanchez, E., Hagerman, R. J., Mu, Y., Nguyen, D. V., Wong, H., Whelan, A. M., Zukin, R. S., Klann, E., Tassone, F.
Published in Genes, brain and behavior (01.04.2012)
Published in Genes, brain and behavior (01.04.2012)
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Gamma power abnormalities in a Fmr1-targeted transgenic rat model of fragile X syndrome
Kozono, Naoki, Okamura, Ai, Honda, Sokichi, Matsumoto, Mitsuyuki, Mihara, Takuma
Published in Scientific Reports (02.11.2020)
Published in Scientific Reports (02.11.2020)
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Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
Bilousova, T V, Dansie, L, Ngo, M, Aye, J, Charles, J R, Ethell, D W, Ethell, I M
Published in Journal of medical genetics (01.02.2009)
Published in Journal of medical genetics (01.02.2009)
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Spatial control of nucleoporin condensation by fragile X‐related proteins
Agote‐Aran, Arantxa, Schmucker, Stephane, Jerabkova, Katerina, Jmel Boyer, Inès, Berto, Alessandro, Pacini, Laura, Ronchi, Paolo, Kleiss, Charlotte, Guerard, Laurent, Schwab, Yannick, Moine, Hervé, Mandel, Jean‐Louis, Jacquemont, Sebastien, Bagni, Claudia, Sumara, Izabela
Published in The EMBO journal (15.10.2020)
Published in The EMBO journal (15.10.2020)
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Clinical implications of somatic allele expansion in female FMR1 premutation carriers
Aishworiya, Ramkumar, Hwang, Ye Hyun, Santos, Ellery, Hayward, Bruce, Usdin, Karen, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora
Published in Scientific reports (29.04.2023)
Published in Scientific reports (29.04.2023)
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Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
Lubala, Toni Kasole, Kayembe-Kitenge, Tony, Mubungu, Gerrye, Lumaka, Aimé, Kanteng, Gray, Savage, Sarah, Luboya, Oscar, Hagerman, Randi, Devriendt, Koenraad, Lukusa-Tshilobo, Prosper
Published in European journal of medical genetics (01.09.2023)
Published in European journal of medical genetics (01.09.2023)
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CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size
Ludwig, A. L., Espinal, G. M., Pretto, D. I., Jamal, A. L., Arque, G., Tassone, F., Berman, R. F., Hagerman, P. J.
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis
Payne, Jonathan M., Haebich, Kristina M., Mitchell, Rebecca, Bozaoglu, Kiymet, Giliberto, Emma, Lockhart, Paul J., Maier, Alice, Velasco, Silvia, Ball, Gareth, North, Kathryn N., Hocking, Darren R.
Published in Molecular psychiatry (01.04.2025)
Published in Molecular psychiatry (01.04.2025)
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Size and methylation mosaicism in males with Fragile X syndrome
Jiraanont, Poonnada, Kumar, Madhur, Tang, Hiu-Tung, Espinal, Glenda, Hagerman, Paul J, Hagerman, Randi J, Chutabhakdikul, Nuanchan, Tassone, Flora
Published in Expert review of molecular diagnostics (02.11.2017)
Published in Expert review of molecular diagnostics (02.11.2017)
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Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology
Paracuellos-Ayala, Irene, Caruana, Giovanni, Reyes Ortega, Macarena Maria, Hagerman, Randi J., Wang, Jun Yi, Rodriguez-Revenga, Laia, Elias-Mas, Andrea
Published in International journal of molecular sciences (06.05.2025)
Published in International journal of molecular sciences (06.05.2025)
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Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome
Kashima, Risa, Roy, Sougata, Ascano, Manuel, Martinez-Cerdeno, Veronica, Ariza-Torres, Jeanelle, Kim, Sunghwan, Louie, Justin, Lu, Yao, Leyton, Patricio, Bloch, Kenneth D, Kornberg, Thomas B, Hagerman, Paul J, Hagerman, Randi, Lagna, Giorgio, Hata, Akiko
Published in Science signaling (07.06.2016)
Published in Science signaling (07.06.2016)
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