Fragile X Syndrome: Recent Research Updates toward Capturing Treatments’ Improvement in Clinical Trials by Dejan B. Budimirovic, Dragana D. Protic

“…This <i>Brain Sciences 2020</i> Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]…”
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Progranulin is an FMRP target that influences macroorchidism but not behaviour in a mouse model of Fragile X Syndrome by Benjamin Life, Luis E.B. Bettio, Ilse Gantois, Brian R. Christie, Blair R. Leavitt

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NMDA RECEPTOR-BK CHANNEL FUNCTIONAL COUPLING IS ALTERED IN THE FRAGILE-X-SYNDROME MOUSE MODEL by Andrea Reyes-Carrión, David Bartolomé-Martín, Belinda Rivero-Pérez, Teresa Giraldez

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The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation by Rossella Lucá, Michele Averna, Francesca Zalfa, Manuela Vecchi, Fabrizio Bianchi, Giorgio La Fata, Franca Del Nonno, Roberta Nardacci, Marco Bianchi, Paolo Nuciforo, Sebastian Munck, Paola Parrella, Rute Moura, Emanuela Signori, Robert Alston, Anna Kuchnio, Maria Giulia Farace, Vito Michele Fazio, Mauro Piacentini, Bart De Strooper, Tilmann Achsel, Giovanni Neri, Patrick Neven, D. Gareth Evans, Peter Carmeliet, Massimiliano Mazzone, Claudia Bagni

“…Abstract The role of the fragile X mental retardation protein (FMRP) is well established in brain, where its absence leads to the fragile X syndrome (FXS). …”
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Síndrome frágil X, diabetes mellitus tipo 1 y síndrome de malabsorción intestinal by Rafael Pila Pérez, Rafael Pila Peláez, Pedro Rosales Torres, Víctor Holguín Prieto

“…Se presenta el caso de un paciente de 28 años de edad con el diagnóstico de síndrome frágil X, diabetes mellitus tipo 1 y síndrome de malabsorción intestinal por giardias, entidad poco común y cuyas asociaciones constituyen el primer caso reportado en el país. …”
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Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders by Burcu Asma, Berk Özyılmaz, Feray Güleç Uyaroğlu

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Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome by David Pellerin, Audrey Lortie, François Corbin

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Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series by Maria Jimena Salcedo-Arellano, Ana Maria Cabal-Herrera, Nattaporn Tassanakijpanich, Yingratana A. McLennan, Randi J. Hagerman

Subjects: “…fragile X-associated tremor and ataxia syndrome…”
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Distance delivery of a parent-implemented language intervention for young boys with fragile X syndrome by Lauren Bullard, Andrea McDuffie, Leonard Abbeduto

“…Despite these challenges, families affected by fragile X syndrome often have limited access to center-based intervention programs. …”
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Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome by Katilynne Croom, Jeffrey A. Rumschlag, Michael A. Erickson, Devin K. Binder, Khaleel A. Razak

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The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome by Emily Lorang, Audra Sterling

“…Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. …”
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Circuit-based intervention corrects excessive dentate gyrus output in the fragile X mouse model by Pan-Yue Deng, Ajeet Kumar, Valeria Cavalli, Vitaly A Klyachko

Subjects: “…fragile X syndrome…”
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Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report by Raheleh Mirsadraee, Saba Vakili, Mohammad Reza Abbaszadegan, Rahim Vakili

Subjects: “…fragile x syndromes…”
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Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome by Lindsay J. Mullin, Joshua Rutsohn, Julia L. Gross, Kelly E. Caravella, Rebecca L. Grzadzinski, Leigh Anne Weisenfeld, Lisa Flake, Kelly N. Botteron, Stephen R. Dager, Annette M. Estes, Juhi Pandey, Robert T. Schultz, Tanya St. John, Jason J. Wolff, Mark D. Shen, Joseph Piven, Heather C. Hazlett, Jessica B. Girault

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Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome by James R. Brašić, Ayon Nandi, David S. Russell, Danna Jennings, Olivier Barret, Anil Mathur, Keith Slifer, Thomas Sedlak, Samuel D. Martin, Zabecca Brinson, Pankhuri Vyas, John P. Seibyl, Elizabeth M. Berry-Kravis, Dean F. Wong, Dejan B. Budimirovic

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Attention across modalities as a longitudinal predictor of early outcomes: The case of fragile X syndrome by Scerif, G, Longhi, E, Cole, V, Karmiloff-Smith, A, Cornish, K

“…Background: Fragile X syndrome (FXS) is an early diagnosed monogenic disorder, associated with a striking pattern of cognitive/attentional difficulties and a high risk of poor behavioural outcomes. …”

A YAC CONTIG ACROSS THE FRAGILE-X REGION DERIVED FROM CHROMOSOME MICRODISSECTION MARKERS by Hirst, M, Nakahori, Y, Knight, S, Roche, A, Raut, C, Rack, K, Flynn, G, Buckle, V, Bell, M, Claussen, U, Ludecke, H, Senger, G, Horsthemke, B, Holland, J, Bentley, D, Super, M, Davies, K

Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome. by Scerif, G, Longhi, E, Cole, V, Karmiloff-Smith, A, Cornish, K

“… BACKGROUND:   Fragile X syndrome (FXS) is an early diagnosed monogenic disorder, associated with a striking pattern of cognitive/attentional difficulties and a high risk of poor behavioural outcomes. …”

miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis by Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey V. Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin

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Modeling Fragile X Syndrome: Characterizing Fmr1 Gene Knockout Mice across Genotype, Behavior, and Morphology by Yonghua Liao, Junjie Liu, Jinyuan Zhang, Da Chen, Yifan Liu, Zhuolin Li, Hao Su, Jiaye Tang, Shengqiang Chen

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