Fragile X-associated tremor/ataxia syndrome von Hagerman, Paul J., Hagerman, Randi J.

Volltext

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions von Kim, Kyoungmi, Hessl, David, Randol, Jamie L, Espinal, Glenda M, Schneider, Andrea, Protic, Dragana, Aydin, Elber Yuksel, Hagerman, Randi J, Hagerman, Paul J

Volltext

Transcription-associated R-loop formation across the human FMR1 CGG-repeat region von Loomis, Erick W, Sanz, Lionel A, Chédin, Frédéric, Hagerman, Paul J

Volltext

Recent advances in fragile X: a model for autism and neurodegeneration von Hagerman, Randi J, Ono, Michele Y, Hagerman, Paul J

Volltext

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome von Ross-Inta, Catherine, Omanska-Klusek, Alicja, Wong, Sarah, Barrow, Cedrick, Garcia-Arocena, Dolores, Iwahashi, Christine, Berry-Kravis, Elizabeth, Hagerman, Randi J, Hagerman, Paul J, Giulivi, Cecilia

Volltext

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene von Loomis, Erick W, Eid, John S, Peluso, Paul, Yin, Jun, Hickey, Luke, Rank, David, McCalmon, Sarah, Hagerman, Randi J, Tassone, Flora, Hagerman, Paul J

Volltext

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome von Sellier, Chantal, Freyermuth, Fernande, Tabet, Ricardos, Tran, Tuan, He, Fang, Ruffenach, Frank, Alunni, Violaine, Moine, Herve, Thibault, Christelle, Page, Adeline, Tassone, Flora, Willemsen, Rob, Disney, Matthew D., Hagerman, Paul J., Todd, Peter K., Charlet-Berguerand, Nicolas

Volltext

Autofluorescence-based analyses of intranuclear inclusions of Fragile X-associated tremor/ataxia syndrome von Ma, Lisa, Hagerman, Paul J.

Volltext

Signaling defects in iPSC-derived fragile X premutation neurons von JING LIU, KOSCIELSKA, Katarzyna A, HAGERMAN, Randi J, NOLTA, Jan, PESSAH, Isaac N, HAGERMAN, Paul J, ZHENGYU CAO, HULSIZER, Susan, GRACE, Natalie, MITCHELL, Gaela, NACEY, Catherine, GITHINJI, Jackline, MCGEE, Jeannine, GARCIA-AROCENA, Dolores

Volltext

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1 von Jacquemont, Sebastien, MD, Hagerman, Randi J, MD, Hagerman, Paul J, PhD, Leehey, Maureen A, MD

Volltext

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome von Ma, Lisa, Herren, Anthony W, Espinal, Glenda, Randol, Jamie, McLaughlin, Bridget, Martinez-Cerdeño, Veronica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

Volltext

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome von Robin, Gaëlle, López, José R, Espinal, Glenda M, Hulsizer, Susan, Hagerman, Paul J, Pessah, Isaac N

Volltext

Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines von Berry-Kravis, Elizabeth, Abrams, Liane, Coffey, Sarah M., Hall, Deborah A., Greco, Claudia, Gane, Louise W., Grigsby, Jim, Bourgeois, James A., Finucane, Brenda, Jacquemont, Sebastien, Brunberg, James A., Zhang, Lin, Lin, Janet, Tassone, Flora, Hagerman, Paul J., Hagerman, Randi J., Leehey, Maureen A.

Volltext

Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome von 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

Volltext

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome von Napoli, Eleonora, Ross-Inta, Catherine, Wong, Sarah, Omanska-Klusek, Alicja, Barrow, Cedrick, Iwahashi, Christine, Garcia-Arocena, Dolores, Sakaguchi, Danielle, Berry-Kravis, Elizabeth, Hagerman, Randi, Hagerman, Paul J., Giulivi, Cecilia

Volltext

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X ( FMR1 ) Gene in Newborn and High-Risk Populations von Tassone, Flora, Pan, Ruiqin, Amiri, Khaled, Taylor, Annette K, Hagerman, Paul J

Volltext

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates von Jacquemont, Sébastien, Hagerman, Randi J., Leehey, Maureen, Grigsby, Jim, Zhang, Lin, Brunberg, James A., Greco, Claudia, Des Portes, Vincent, Jardini, Tristan, Levine, Richard, Berry-Kravis, Elizabeth, Brown, W. Ted, Schaeffer, Stephane, Kissel, John, Tassone, Flora, Hagerman, Paul J.

Volltext

Clinical and molecular implications of mosaicism in FMR1 full mutations von Pretto, Dalyir, Yrigollen, Carolyn M, Tang, Hiu-Tung, Williamson, John, Espinal, Glenda, Iwahashi, Chris K, Durbin-Johnson, Blythe, Hagerman, Randi J, Hagerman, Paul J, Tassone, Flora

Volltext

Fragile X syndrome von Hagerman, Paul J., Hagerman, Randi

Volltext

Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study von Yang, Jin-Chen, Niu, Yu-Qiong, Simon, Christa, Seritan, Andreea L, Chen, Lawrence, Schneider, Andrea, Moghaddam, Shayan T, Hagerman, Paul J, Hagerman, Randi J, Olichney, John M

Volltext