المؤلفون: Bergadà Martínez, Araceli

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Medicina i Ciències de la Vida

Thesis Advisors: Ozaita Mintegui, Andrés, Maldonado, Rafael

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Cognitive function, Cannabinoid type-1 receptor, Peripheral-to-central, Noradrenergic system, Fragile X Syndrome, Funció cognitiva, Receptor cannabinoide tipus 1, Perifèric-a-central, Sistema noradrenèrgic, Síndrome X Fràgil

Time: 616.8

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/690467

المؤلفون: Jo, Yoon Hee¹ (AUTHOR), Lee, Yoo Jung¹ (AUTHOR), Kong, Juhyun² (AUTHOR), Lee, Yun-Jin² (AUTHOR), Nam, Sang Ook² (AUTHOR), Kim, Young Mi¹ (AUTHOR) pink2129@naver.com

المصدر: Annals of Child Neurology. Jan2025, Vol. 33 Issue 1, p34-37. 4p.

مصطلحات موضوعية: *FRAGILE X syndrome, *HEREDITY, *MEDICAL genetics, *GENETIC variation, *CONGENITAL disorders

المؤلفون: Mbachu, Chioma N. P.^1,2 (AUTHOR) chiomambachu121417@gmail.com, Hagerman, Randi^2,3 (AUTHOR) rjhagerman@ucdavis.edu, Eseigbe, Edwin⁴ (AUTHOR), Odita, Amalachukwu¹ (AUTHOR), Mbachu, Ikechukwu⁵ (AUTHOR), Ilikanu, Samuel⁶ (AUTHOR), Akowundu, Kasarachi⁷ (AUTHOR), Ndukwu, Chizalu¹ (AUTHOR), Echezona, Malachy⁸ (AUTHOR), Okereke, Onyedikachi⁹ (AUTHOR), Echendu, Sylvia¹ (AUTHOR), Udigwe, Ifeoma¹⁰ (AUTHOR)

المصدر: Clinical Genetics. Jan2025, Vol. 107 Issue 1, p56-66. 11p.

مصطلحات موضوعية: *FRAGILE X syndrome, *PHYSICIANS, *FISHER exact test, *KNOWLEDGE management, *INTELLECTUAL disabilities

مصطلحات جغرافية: NIGERIA

المؤلفون: Dionne, Olivier¹ (AUTHOR), Sabatié, Salomé¹ (AUTHOR), Laurent, Benoit^1,2 (AUTHOR)

المصدر: Brain: A Journal of Neurology. Jan2025, Vol. 148 Issue 1, p12-26. 15p.

مصطلحات موضوعية: *FRAGILE X syndrome, *INDUCED pluripotent stem cells, *PRADER-Willi syndrome, *PLURIPOTENT stem cells, *ANGELMAN syndrome

المؤلفون: Gillett, Drew A.¹ (AUTHOR), Tigro, Helene¹ (AUTHOR), Wang, Yuan¹ (AUTHOR), Suo, Zucai¹ (AUTHOR) zucai.suo@med.fsu.edu

المصدر: Cells (2073-4409). Dec2024, Vol. 13 Issue 24, p2100. 15p.

مصطلحات موضوعية: *FRAGILE X syndrome, *X chromosome, *DEVELOPMENTAL biology, *GENE expression, *EXTRACELLULAR vesicles

المؤلفون: Kalin, Ned H.¹ (AUTHOR) nkalin@wisc.edu

المصدر: American Journal of Psychiatry. Dec2024, Vol. 181 Issue 12, p1029-1032. 4p.

مصطلحات موضوعية: *FRAGILE X syndrome, *FUNCTIONAL magnetic resonance imaging, *NEURAL pathways, *AUTISM spectrum disorders, *ANTISOCIAL personality disorders, *POST-traumatic stress disorder

المؤلفون: Protic, Dragana, Polli, Roberta, Bettella, Elisa, Usdin, Karen, Murgia, Alessandra, Tassone, Flora

المصدر: International Journal of Molecular Sciences. 25(24)

مصطلحات موضوعية: FMR1 gene, activation ratio, full mutation, methylation, mosaicism, premutation, Fragile X Syndrome, Humans, Mosaicism, Fragile X Mental Retardation Protein, DNA Methylation, Mutation, Alleles, Trinucleotide Repeat Expansion, Clinical Relevance

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5585k5zr
https://escholarship.org/content/qt5585k5zr/qt5585k5zr.pdf

المؤلفون: Vázquez Oliver, Anna

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Ozaita Mintegui, Andrés, Maldonado, Rafael

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Down syndrome, Fragile X syndrome, Endocannabinoid system, Cannabinoid type-1 receptor, Vagus nerve, Sindrome de Down, Síndrome X fràgil, Sistema endocannabinoide, Receptor cannabinoide tipus 1, Nervi vague

Time: 616.89

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/673557

المؤلفون: Brambilla Pisoni, Cecilia

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Ozaita Mintegui, Andrés, Maldonado, Rafael

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Vagus nerve stimulation, Memory persistence, Brain connectivity, Fragile X syndrome, Network analysis, Estimulación del nervio vago, Persistencia de la memoria, Conectividad cerebral, Síndrome de X frágil, Análisis de red

Time: 616.8

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/673491

المؤلفون: Proteau-Lemieux, Mélodie, Knoth, Inga, Davoudi, Saeideh, Martin, Charles-Olivier, Bélanger, Anne-Marie, Fontaine, Valérie, Côté, Valérie, Agbogba, Kristian, Vachon, Keely, Whitlock, Kerri, Biag, Hazel, Thurman, Angela John, Rosenfelt, Cory, Tassone, Flora, Frei, Julia, Capano, Lucia, Abbeduto, Leonard, Jacquemont, Sébastien, Hessl, David, Hagerman, Randi, Schneider, Andrea, Bolduc, Francois, Anagnostou, Evdokia, Lippe, Sarah

المصدر: Journal of Neurodevelopmental Disorders. 16(1)

مصطلحات موضوعية: Alpha peak frequency, Autism spectrum disorder, Cognition, Fragile X syndrome, Multi scale entropy, Neurodevelopment, Power spectral density, Resting state EEG, Signal complexity, Humans, Autism Spectrum Disorder, Male, Female, Child, Adolescent, Young Adult, Electroencephalography, Fragile X Syndrome, Child, Preschool, Biomarkers, Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/294303sp
https://escholarship.org/content/qt294303sp/qt294303sp.pdf

المؤلفون: Medina-Gómez, Begoña¹ (AUTHOR) bmedina@ubu.es, Pérez de Albéniz-Garrote, Gloria¹ (AUTHOR)

المصدر: International Journal of Disability, Development & Education. Nov2024, p1-13. 13p.

مصطلحات موضوعية: *FRAGILE X syndrome, *DOWN syndrome, *SOCIAL isolation, *TRUST, *ADULTS

المؤلفون: Rohrer, Callie¹ (AUTHOR), Palumbo, Alexis¹ (AUTHOR), Paul, Marissa¹ (AUTHOR), Reese, Erin² (AUTHOR), Basu, Swarna¹ (AUTHOR) basu@susqu.edu

المصدر: Nucleosides, Nucleotides & Nucleic Acids. Nov2024, p1-24. 24p. 11 Illustrations.

مصطلحات موضوعية: *FRAGILE X syndrome, *DNA denaturation, *SERS spectroscopy, *DNA analysis, *AMYOTROPHIC lateral sclerosis

المؤلفون: Fink, James J.^1,2 (AUTHOR), Delaney-Busch, Nathaniel² (AUTHOR), Dawes, Ryan³ (AUTHOR), Nanou, Evanthia³ (AUTHOR), Folts, Christopher³ (AUTHOR), Harikrishnan, Karthiayani^1,2 (AUTHOR), Hempel, Chris² (AUTHOR), Upadhyay, Hansini² (AUTHOR), Nguyen, Trinh² (AUTHOR), Shroff, Himali² (AUTHOR), Stoppel, David⁴ (AUTHOR), Ryan, Steven J.^1,2 (AUTHOR), Jacques, Jane^1,2 (AUTHOR), Grooms, Jennifer^1,2 (AUTHOR), Berry-Kravis, Elizabeth⁵ (AUTHOR), Bear, Mark F.⁴ (AUTHOR), Williams, Luis A.^1,2 (AUTHOR), Gerber, David^1,2 (AUTHOR), Bunnage, Mark³ (AUTHOR), Furey, Brinley³ (AUTHOR)

المصدر: Communications Biology. 11/6/2024, Vol. 7 Issue 1, p1-15. 15p.

مصطلحات موضوعية: *FRAGILE X syndrome, *HIGH throughput screening (Drug development), *GENE expression, *GENE silencing, *PHENOTYPES

المؤلفون: Fox, Adam E.¹ (AUTHOR) afox@stlawu.edu, Cooper, Abbie R.¹ (AUTHOR), Pape, Amelia L.¹ (AUTHOR), Tobias‐Wallingford, Hannah M.¹ (AUTHOR), DeCoteau, William E.¹ (AUTHOR) bdecoteau@stlawu.edu

المصدر: Journal of the Experimental Analysis of Behavior. Nov2024, p1. 9p. 3 Illustrations.

مصطلحات موضوعية: *FRAGILE X syndrome, *LABORATORY rats, *TIME perception, *DELAY discounting (Psychology), *REWARD (Psychology)

المؤلفون: Napier, Matthew^1,2 (AUTHOR), Kumar, Ashish³ (AUTHOR), Szulist, Natasha¹ (AUTHOR), Martin, Dale³ (AUTHOR), Scott, Angela L.^1,2 (AUTHOR) angela.scott@uoguelph.ca

المصدر: Hippocampus. Nov2024, Vol. 34 Issue 11, p633-644. 12p.

مصطلحات موضوعية: *FRAGILE X syndrome, *CHILDREN with intellectual disabilities, *HIPPOCAMPUS development, *PURINERGIC receptors, *HIPPOCAMPUS (Brain)

المؤلفون: Norris, Jordan E.¹ (AUTHOR), Berry-Kravis, Elizabeth M.² (AUTHOR), Harnett, Mark D.³ (AUTHOR), Reines, Scott A.³ (AUTHOR), Reese, Melody A.⁴ (AUTHOR), Outterson, Abigail H.² (AUTHOR), Michalak, Claire² (AUTHOR), Furman, Jeremiah² (AUTHOR), Gurney, Mark E.³ (AUTHOR), Ethridge, Lauren E.^1,5 (AUTHOR) ethri@ou.edu

المصدر: Molecular Autism. 11/2/2024, Vol. 15 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *FRAGILE X syndrome, *EVOKED potentials (Electrophysiology), *COGNITIVE ability, *BIOMARKERS, *INTELLECTUAL disabilities, *SPINOCEREBELLAR ataxia

المؤلفون: Mutlu, Mehmet Burak¹ (AUTHOR) dr.mutluburak@gmail.com, Karakaya, Taner² (AUTHOR), Çelebi, Hamide Betül Gerik³ (AUTHOR), Duymuş, Fahrettin⁴ (AUTHOR), Seyhan, Serhat⁵ (AUTHOR), Yılmaz, Sanem⁶ (AUTHOR), Yiş, Uluç⁷ (AUTHOR), Atik, Tahir⁸ (AUTHOR), Yetkin, Mehmet Fatih⁹ (AUTHOR), Gümüş, Hakan¹⁰ (AUTHOR)

المصدر: Clinical Genetics. Oct2024, p1. 8p. 6 Illustrations.

مصطلحات موضوعية: *FRAGILE X syndrome, *FRIEDREICH'S ataxia, *GENE mapping, *TANDEM repeats, *NUCLEIC acids, *FACIOSCAPULOHUMERAL muscular dystrophy

المؤلفون: Ethridge, Lauren E.^1,2 (AUTHOR) ethri@ou.edu, Pedapati, Ernest V.^3,4,5 (AUTHOR), Schmitt, Lauren M.^6,7 (AUTHOR), Norris, Jordan E.¹ (AUTHOR), Auger, Emma¹ (AUTHOR), De Stefano, Lisa A.⁴ (AUTHOR), Sweeney, John A.⁵ (AUTHOR), Erickson, Craig A.^4,5 (AUTHOR)

المصدر: Scientific Reports. 10/17/2024, Vol. 14 Issue 1, p1-16. 16p.

مصطلحات موضوعية: *FRAGILE X syndrome, *MACHINE learning, *SMALL molecules, *ELECTROENCEPHALOGRAPHY, *CLINICAL trials

المؤلفون: Bartholomay, Kristi L.^1,2 (AUTHOR) kristi.bartholomay@cuanschutz.edu, Jordan, Tracy L.¹ (AUTHOR), Foland‐Ross, Lara C.¹ (AUTHOR), Kendall, Nicholas¹ (AUTHOR), Lightbody, Amy A.¹ (AUTHOR), Reiss, Allan L.^1,3,4 (AUTHOR)

المصدر: Developmental Medicine & Child Neurology. Sep2024, p1. 10p. 5 Illustrations.

مصطلحات موضوعية: *FRAGILE X syndrome, *GRAY matter (Nerve tissue), *GLOBUS pallidus, *MAGNETIC resonance imaging, *CAUDATE nucleus

المؤلفون: Ketata, Imen^1,2 (AUTHOR) imen.ketata.fmss@gmail.com, Ellouz, Emna^1,2 (AUTHOR)

المصدر: Neurology & Clinical Neuroscience. Sep2024, p1. 8p. 4 Illustrations.

مصطلحات موضوعية: *FRAGILE X syndrome, *SLEEP interruptions, *DEVELOPMENTAL disabilities, *DEVELOPMENTAL delay, *LANGUAGE delay