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- [41] Executive Dysfunction in Female FMR1 Premutation CarriersThe Cerebellum, 2016, 15 : 565 - 569Annie L. Shelton论文数: 0 引用数: 0 h-index: 0机构: Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN)Kim M. Cornish论文数: 0 引用数: 0 h-index: 0机构: Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN)Claudine M. Kraan论文数: 0 引用数: 0 h-index: 0机构: Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN)Reymundo Lozano论文数: 0 引用数: 0 h-index: 0机构: Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN)Minh Bui论文数: 0 引用数: 0 h-index: 0机构: Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN)Joanne Fielding论文数: 0 引用数: 0 h-index: 0机构: Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN)
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- [43] Response Inhibition Deficits in Women with the FMR1 Premutation are Associated with Age and Fall RiskBRAIN AND COGNITION, 2021, 148Moser, Carly论文数: 0 引用数: 0 h-index: 0机构: Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USA Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USASchmitt, Lyndsay论文数: 0 引用数: 0 h-index: 0机构: Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USA Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USASchmidt, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Cent Florida, Dept Psychol, 4111 Pictor Lane, Orlando, FL 32816 USA Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USAFairchild, Amanda论文数: 0 引用数: 0 h-index: 0机构: Univ South Carolina, Dept Psychol, 1512 Pendleton St, Columbia, SC 29208 USA Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USAKlusek, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USA Univ South Carolina, Commun Sci & Disorders, 1705 Coll St, Columbia, SC 29208 USA
- [44] Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation AlleleCEREBELLUM, 2016, 15 (05) : 570 - 577Rodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, Spain CIBER Enfermedades Raras CIBERER, Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainPagonabarraga, Javier论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Neurol Serv, Barcelona, Spain CIBER Enfermedades Neurodegenerativas CIBERNED, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainGomez-Anson, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Dept Radiol, Neuroradiol Unit, Barcelona, Spain Inst Invest Biomed St Pau IIB, Barcelona, Spain Univ Autonoma Barcelona, PIC, IFAE, Barcelona, Spain Univ Autonoma Barcelona, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainLopez-Mourelo, Olga论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, PIC, IFAE, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainIzquierdo, Silvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Secc Genet Clin & Reprod Asistida, Serv Bioquim Clin, Zaragoza, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainIsabel Alvarez-Mora, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, Spain CIBER Enfermedades Raras CIBERER, Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainGranell, Esther论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Dept Radiol, Neuroradiol Unit, Barcelona, Spain Inst Invest Biomed St Pau IIB, Barcelona, Spain Univ Autonoma Barcelona, PIC, IFAE, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainMadrigal, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, Spain CIBER Enfermedades Raras CIBERER, Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, SpainMila, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, Spain CIBER Enfermedades Raras CIBERER, Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, C Villarroel 170, E-08036 Barcelona, Spain
- [45] FMR1 Premutation Allele (CGG)81 Is Stable in MiceEuropean Journal of Human Genetics, 1997, 5 (5) : 293 - 298Carola J. M. Bontekoe论文数: 0 引用数: 0 h-index: 0机构: Erasmus University,MGC Department of Clinical GeneticsEsther de Graaff论文数: 0 引用数: 0 h-index: 0机构: Erasmus University,MGC Department of Clinical GeneticsIngeborg M. Nieuwenhuizen论文数: 0 引用数: 0 h-index: 0机构: Erasmus University,MGC Department of Clinical GeneticsRob Willemsen论文数: 0 引用数: 0 h-index: 0机构: Erasmus University,MGC Department of Clinical GeneticsBen A. Oostra论文数: 0 引用数: 0 h-index: 0机构: Erasmus University,MGC Department of Clinical Genetics
- [46] A family with two female siblings with compound heterozygous FMR1 premutation allelesCLINICAL GENETICS, 2014, 85 (05) : 458 - 463Basuta, K.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USALozano, R.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, MIND Inst, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USASchneider, A.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, MIND Inst, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Pediat, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USAYrigollen, C. M.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USAHessl, D.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, MIND Inst, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USAHagerman, R. J.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, MIND Inst, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Pediat, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USATassone, F.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA UC Davis Med Ctr, MIND Inst, Sacramento, CA 95817 USA UC Davis Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA
- [47] Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriersJOURNAL OF OVARIAN RESEARCH, 2024, 17 (01)Agusti, Ines论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainAlvarez-Mora, Maria Isabel论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, Barcelona 08036, Spain Inst Salud Carlos III, CIBER Rare Dis, Madrid, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainWijngaard, Robin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainBorras, Aina论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainBarcos, Tamara论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainPeralta, Sara论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainGuimera, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainGoday, Anna论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainManau, Dolors论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, SpainRodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed August Pi i Sunyer IDIBAPS, FCRB, C Villarroel 170, Barcelona 08036, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, Barcelona 08036, Spain Inst Salud Carlos III, CIBER Rare Dis, Madrid, Spain Hosp Clin Barcelona, Clin Inst Gynecol Obstet & Neonatol ICGON, Barcelona, Spain
- [48] Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation CarriersCEREBELLUM, 2016, 15 (05) : 578 - 586Hall, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USARobertson, Erin论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Acad Facil, Dept Anat & Cell Biol, 600 South Paulina St, Chicago, IL 60612 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAShelton, Annie L.论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Sch Psychol Sci, Melbourne, Vic, Australia Monash Univ, Monash Inst Cognit & Clin Neurosci, Melbourne, Vic, Australia Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USALosh, Molly C.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAMila, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS, CIBERER, Serv Bioquim & Genet Mol, Barcelona, Spain Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAGranell Moreno, Esther论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Neuroradiol Unit, Barcelona, Spain UAB, Hosp St Pau, IIB St Pau, Neuroimaging Res Grp, Barcelona, Spain Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAGomez-Anson, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Neuroradiol Unit, Barcelona, Spain UAB, Hosp St Pau, IIB St Pau, Neuroimaging Res Grp, Barcelona, Spain Univ Autonoma Barcelona, Barcelona, Spain Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAMartinez-Cerdeno, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Med Ctr, Dept Pathol & Lab Med, Sacramento, CA 95817 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAGrigsby, Jim论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Denver, Dept Med, Aurora, CO USA Univ Colorado Denver, Dept Psychol, Aurora, CO USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USALozano, Reymundo论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Pediat, New York, NY 10029 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAHagerman, Randi论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA 95817 USA Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USASanta Maria, Lorena论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Inst Nutr & Food Technol INTA, Cytogenet & Mol Lab, Santiago, Chile Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USABerry-Kravis, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA Rush Univ, Dept Pediat, Chicago, IL 60612 USA Rush Univ, Dept Biochem, Chicago, IL 60612 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USAO'Keefe, Joan A.论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA Rush Univ, Acad Facil, Dept Anat & Cell Biol, 600 South Paulina St, Chicago, IL 60612 USA Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA
- [49] Penetrance of FMR1 premutation associated pathologies in fragile X syndrome familiesEUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (10) : 1359 - 1362Rodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: CIBERER, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainMadrigal, Irene论文数: 0 引用数: 0 h-index: 0机构: CIBERER, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainPagonabarraga, Javier论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Barcelona, Movement Disorders Unit, Dept Neurol, Sant Pau Hosp, E-08193 Barcelona, Spain CIBERNED, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainXuncla, Mar论文数: 0 引用数: 0 h-index: 0机构: Fundacio Clin Recerca Biomed, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainBadenas, Celia论文数: 0 引用数: 0 h-index: 0机构: CIBERER, Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainKulisevsky, Jaime论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Barcelona, Movement Disorders Unit, Dept Neurol, Sant Pau Hosp, E-08193 Barcelona, Spain CIBERNED, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainGomez, Beatriz论文数: 0 引用数: 0 h-index: 0机构: CDI Hosp Sant Pau, Dept Radiol, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, SpainMila, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, Spain CIBERER, Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Serv, Dept Biochem & Mol Genet, Barcelona 08036, Spain
- [50] Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sampleCLINICAL GENETICS, 2014, 85 (05) : 441 - 445Jang, J. -H.论文数: 0 引用数: 0 h-index: 0机构: Green Cross Labs, Yongin 446913, Gyeonggi Do, South Korea Green Cross Labs, Yongin 446913, Gyeonggi Do, South KoreaLee, K.论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea Green Cross Labs, Yongin 446913, Gyeonggi Do, South KoreaCho, E. -H.论文数: 0 引用数: 0 h-index: 0机构: Green Cross Labs, Yongin 446913, Gyeonggi Do, South Korea Green Cross Labs, Yongin 446913, Gyeonggi Do, South KoreaLee, E. -H.论文数: 0 引用数: 0 h-index: 0机构: Green Cross Labs, Yongin 446913, Gyeonggi Do, South Korea Green Cross Labs, Yongin 446913, Gyeonggi Do, South KoreaKim, J. -W.论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea Green Cross Labs, Yongin 446913, Gyeonggi Do, South KoreaKi, C. -S.论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea Green Cross Labs, Yongin 446913, Gyeonggi Do, South Korea