Works matching DE "FRAGILE X syndrome"

Results: 2108

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 226, doi. 10.1038/nsmb.1527

By:

Voineagu, Irina;
Surka, Christine F;
Shishkin, Alexander A;
Krasilnikova, Maria M;
Mirkin, Sergei M

Publication type:

Article

Cancer risk in individuals with intellectual disability in Sweden: A population-based cohort study.

Published in:

2021

By:

Liu, Qianwei;
Adami, Hans-Olov;
Reichenberg, Abraham;
Kolevzon, Alexander;
Fang, Fang;
Sandin, Sven

Publication type:

journal article

Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.

Published in:

Revista Mexicana de Neurociencia, 2022, v. 23, n. 2, p. 51, doi. 10.24875/RMN.21000044

By:

Vindas-Smith, Rebeca;
Sequeira-Cordero, Andrey;
Castro-Volio, Isabel;
Jiménez-González, Patricia;
Cuenca, Patricia;
Saborío-Rocafort, Manuel;
Fallas, Marietha;
Vásquez, Melissa

Publication type:

Article

Nonmalignant Diseases and Treatments Associated with Primary Ovarian Failure: An Expanded Role for Fertility Preservation.

Published in:

2011

By:

Hirshfeld-Cytron, Jennifer;
Gracia, Clarisa;
Woodruff, Teresa K.

Publication type:

Journal Article

Innovations in EP: the thin line between taking chances and taking (unknown) risks—a patient's perspective.

Published in:

Journal of Interventional Cardiac Electrophysiology, 2023, v. 66, n. 4, p. 831, doi. 10.1007/s10840-022-01380-0

By:

Drossart, Inga

Publication type:

Article

Characterization of Oral Health Status in Chilean Patients with X-Linked Hypophosphatemia.

Published in:

Calcified Tissue International, 2021, v. 109, n. 2, p. 132, doi. 10.1007/s00223-021-00841-4

By:

Marin, Alejandro;
Morales, Pilar;
Jiménez, Macarena;
Borja, Eugenia;
Ivanovic-Zuvic, Danisa;
Collins, Michael T.;
Florenzano, Pablo

Publication type:

Article

Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.

Published in:

Archives of Gynecology & Obstetrics, 2014, v. 289, n. 6, p. 1255, doi. 10.1007/s00404-014-3145-4

By:

Tosh, Durgadatta;
Rao, K.;
Rani, H.;
Deenadayal, D.;
Murty, U.;
Grover, Paramjit

Publication type:

Article

Intellectual disability: dendritic anomalies and emerging genetic perspectives.

Published in:

Acta Neuropathologica, 2021, v. 141, n. 2, p. 139, doi. 10.1007/s00401-020-02244-5

By:

Quach, Tam T.;
Stratton, Harrison J.;
Khanna, Rajesh;
Kolattukudy, Pappachan E.;
Honnorat, Jérome;
Meyer, Kathrin;
Duchemin, Anne-Marie

Publication type:

Article

Loss of fragile X mental retardation protein precedes Lewy pathology in Parkinson's disease.

Published in:

Acta Neuropathologica, 2020, v. 139, n. 2, p. 319, doi. 10.1007/s00401-019-02099-5

By:

Tan, Yi;
Sgobio, Carmelo;
Arzberger, Thomas;
Machleid, Felix;
Tang, Qilin;
Findeis, Elisabeth;
Tost, Jorg;
Chakroun, Tasnim;
Gao, Pan;
Höllerhage, Mathias;
Bötzel, Kai;
Herms, Jochen;
Höglinger, Günter;
Koeglsperger, Thomas

Publication type:

Article

Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP.

Published in:

Acta Neuropathologica, 2016, v. 132, n. 5, p. 721, doi. 10.1007/s00401-016-1603-8

By:

Majumder, Pritha;
Chu, Jen-Fei;
Chatterjee, Biswanath;
Swamy, Krishna;
Shen, Che-Kun

Publication type:

Article

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.

Published in:

Acta Neuropathologica, 2013, v. 126, n. 1, p. 1, doi. 10.1007/s00401-013-1138-1

By:

Hagerman, Paul

Publication type:

Article

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

Published in:

Acta Neuropathologica, 2011, v. 122, n. 4, p. 467, doi. 10.1007/s00401-011-0860-9

By:

Hunsaker, Michael;
Greco, Claudia;
Spath, Marian;
Smits, Arie;
Navarro, Celestine;
Tassone, Flora;
Kros, Johan;
Severijnen, Lies-Anne;
Berry-Kravis, Elizabeth;
Berman, Robert;
Hagerman, Paul;
Willemsen, Rob;
Hagerman, Randi;
Hukema, Renate

Publication type:

Article

Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domain.

Published in:

Nature, 2014, v. 511, n. 7511, p. 557, doi. 10.1038/nature13396

By:

Doré, Andrew S.;
Okrasa, Krzysztof;
Patel, Jayesh C.;
Serrano-Vega, Maria;
Bennett, Kirstie;
Cooke, Robert M.;
Errey, James C.;
Jazayeri, Ali;
Khan, Samir;
Tehan, Ben;
Weir, Malcolm;
Wiggin, Giselle R.;
Marshall, Fiona H.

Publication type:

Article

Adulthood: Life lessons.

Published in:

Nature, 2012, v. 491, n. 7422, p. S10, doi. 10.1038/491S10a

By:

Borthwick, Lindsay

Publication type:

Article

Treatments: In the waiting room.

Published in:

Nature, 2012, v. 491, n. 7422, p. S14, doi. 10.1038/491S14a

By:

Eisenstein, Michael

Publication type:

Article

Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report.

Published in:

2022

By:

Ocak, Özgül;
Sılan, Fatma

Publication type:

Case Study

Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 6, p. 1863, doi. 10.55730/1300-0144.5533

By:

DÜNDAR, İsmail;
BÜYÜKAVCI, Mehmet Akif;
ÇİFTÇİ, Nurdan

Publication type:

Article

Early Social Enrichment Rescues Adult Behavioral and Brain Abnormalities in a Mouse Model of Fragile X Syndrome.

Published in:

Neuropsychopharmacology, 2015, v. 40, n. 5, p. 1113, doi. 10.1038/npp.2014.291

By:

Oddi, Diego;
Subashi, Enejda;
Middei, Silvia;
Bellocchio, Luigi;
Lemaire-Mayo, Valerie;
Guzmán, Manuel;
Crusio, Wim E;
D'Amato, Francesca R;
Pietropaolo, Susanna

Publication type:

Article

Reduced Phenotypic Severity Following Adeno-Associated Virus-Mediated Fmr1 Gene Delivery in Fragile X Mice.

Published in:

Neuropsychopharmacology, 2014, v. 39, n. 13, p. 3100, doi. 10.1038/npp.2014.167

By:

Gholizadeh, Shervin;
Arsenault, Jason;
Xuan, Ingrid Cong Yang;
Pacey, Laura K;
Hampson, David R

Publication type:

Article

Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study.

Published in:

Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2760, doi. 10.1038/npp.2014.122

By:

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

Publication type:

Article

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond.

Published in:

Neuropsychopharmacology, 2012, v. 37, n. 1, p. 178, doi. 10.1038/npp.2011.137

By:

Gross, Christina;
Berry-Kravis, Elizabeth M;
Bassell, Gary J

Publication type:

Article

α-Tocopherol Protects Against Oxidative Stress in the Fragile X Knockout Mouse: an Experimental Therapeutic Approach for the Fmr1 Deficiency.

Published in:

Neuropsychopharmacology, 2009, v. 34, n. 4, p. 1011, doi. 10.1038/npp.2008.152

By:

de Diego-Otero, Yolanda;
Romero-Zerbo, Yanina;
el Bekay, Rajaa;
Decara, Juan;
Sanchez, Lourdes;
Rodriguez-de Fonseca, Fernando;
del Arco-Herrera, Ignacio

Publication type:

Article

Pain and gain of predictive genetic testing: Particular case of fragile X syndrome.

Published in:

2024

By:

Bouayed Abdelmoula, N.;
Ramma, N.;
Abdelmoula, B.

Publication type:

Abstract

How genetics can help diagnosis and treatment in psychiatric conditions.

Published in:

European Psychiatry, 2021, v. 64, p. S49, doi. 10.1192/j.eurpsy.2021.156

By:

Chaumette, B.;
Laurent-Levinson, C.;
Almos, P.;
Degenhardt, F.

Publication type:

Article

P-1250 - Is this really schizofrenia?

Published in:

2012

By:

Islam, L.;
Ranieri, R.;
Carboni, M.;
Scarone, S.;
Gambini, O.

Publication type:

Abstract

Fragile phagocytes: FMRP positively regulates engulfment activity.

Published in:

Journal of Cell Biology, 2017, v. 216, n. 3, p. 531, doi. 10.1083/jcb.201702034

By:

Logan, Mary A.

Publication type:

Article

Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.

Published in:

Journal of Cell Biology, 2014, v. 206, n. 5, p. 599, doi. 10.1083/jcb.201404157

By:

Gerhardt, Jeannine;
Zaninovic, Nikica;
Qiansheng Zhan;
Madireddy, Advaitha;
Nolin, Sarah L.;
Ersalesi, Nicole;
Zi Yan;
Rosenwaks, Zev;
Schildkraut, Carl L.

Publication type:

Article

In This Issue.

Published in:

Journal of Cell Biology, 2014, v. 206, n. 5, p. 574, doi. 10.1083/jcb.201405009

By:

Short, Ben

Publication type:

Article

Children's Participation in Genetic Prevalence Research: Influences on Enrollment and Reports of Parent Satisfaction.

Published in:

Journal of Applied Social Psychology, 1999, v. 29, n. 11, p. 2308, doi. 10.1111/j.1559-1816.1999.tb00112.x

By:

Mazzocco, Michéle M. M.;
Harum, Karen H.;
Myers, Gwen F.;
Reiss, Allan L.

Publication type:

Article

Cerebellar Disorders in Childhood: Cognitive Problems.

Published in:

Cerebellum, 2008, v. 7, n. 4, p. 607, doi. 10.1007/s12311-008-0083-3

By:

Steinlin, Maja

Publication type:

Article

Spontaneous motor-behavior abnormalities in two Drosophila models of neurodevelopmental disorders.

Published in:

Journal of Neurogenetics, 2021, v. 35, n. 1, p. 1, doi. 10.1080/01677063.2020.1833005

By:

Andrew, David R.;
Moe, Mariah E.;
Chen, Dailu;
Tello, Judith A.;
Doser, Rachel L.;
Conner, William E.;
Ghuman, Jaswinder K.;
Restifo, Linda L.

Publication type:

Article

Psychiatric-legal aspects in the oncological pathology.

Published in:

Oncolog-Hematolog, 2018, n. 43, p. 31

By:

Florescu, Cătălina

Publication type:

Article

FMRP-dependent production of large dosage-sensitive proteins is highly conserved.

Published in:

Genetics, 2022, v. 221, n. 4, p. 1, doi. 10.1093/genetics/iyac094

By:

Flanagan, Keegan;
Baradaran-Heravi, Alireza;
Qi Yin;
Dao Duc, Khanh;
Spradling, Allan C.;
Greenblatt, Ethan J.

Publication type:

Article

The polyG diseases: a new disease entity.

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01383-y

By:

Liufu, Tongling;
Zheng, Yilei;
Yu, Jiaxi;
Yuan, Yun;
Wang, Zhaoxia;
Deng, Jianwen;
Hong, Daojun

Publication type:

Article

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01201-x

By:

Chintalaphani, Sanjog R.;
Pineda, Sandy S.;
Deveson, Ira W.;
Kumar, Kishore R.

Publication type:

Article

BRAK. EDUKACJA W ZAMĘTACH I ODMĘTACH.

Published in:

Ogrody Nauk i Sztuk, 2021, v. 11, n. 11, p. 7, doi. 10.15503/onis2021.7.12

By:

Kobylarek, Aleksander

Publication type:

Article

Homology modeling and molecular docking study of metabotropic glutamate receptor 5 variant F: an attempt to develop drugs for treating CNS diseases.

Published in:

Zeitschrift für Physikalische Chemie, 2024, v. 238, n. 8, p. 1551, doi. 10.1515/zpch-2023-0449

By:

Ahmad, Nasir;
Khan, Khalid;
Rashid, Haroon ur;
Khan, Sher Wali;
Umar, Muhammad Naveed;
Gulfam, Naila;
Zahoor, Muhammad;
Ullah, Riaz;
Ali, Essam A.

Publication type:

Article

Theses abstracts.

Published in:: 2000
Publication type:: Abstract

Evaluating the Value of Quadruple Thyroid Screening in the Diagnosis of Hypothyroidism among Premature Neonates in Tehran in 2019-2020.

Published in:

Iranian Journal of Neonatology, 2024, v. 15, n. 1, p. 21, doi. 10.22038/ijn.2023.69619.2347

By:

Mohamadzadeh, Aliyeh;
Fallahi, Minoo;
Hajipour, Mahmoud;
Amirshahi, Alireza;
Kazemian, Mohammad

Publication type:

Article

A Two-Hit Approach Inducing Flurothyl Seizures in Fmr1 Knockout Mice Impacts Anxiety and Repetitive Behaviors.

Published in:

Brain Sciences (2076-3425), 2024, v. 14, n. 9, p. 892, doi. 10.3390/brainsci14090892

By:

Blandin, Katherine J.;
Narvaiz, David A.;
Sullens, Donald Gregory;
Womble, Paige D.;
Hodges, Samantha L.;
Binder, Matthew S.;
Faust, Amanda;
Nguyen, Phuoc H.;
Pranske, Zachary J.;
Lugo, Joaquin N.

Publication type:

Article

Increased Inhibition May Contribute to Maintaining Normal Network Function in the Ventral Hippocampus of a Fmr1-Targeted Transgenic Rat Model of Fragile X Syndrome.

Published in:

Brain Sciences (2076-3425), 2023, v. 13, n. 11, p. 1598, doi. 10.3390/brainsci13111598

By:

Leontiadis, Leonidas J.;
Trompoukis, George;
Felemegkas, Panagiotis;
Tsotsokou, Giota;
Miliou, Athina;
Papatheodoropoulos, Costas

Publication type:

Article

"Corp-Osa-Mente", a Combined Psychosocial–Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.

Published in:

Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 277, doi. 10.3390/brainsci13020277

By:

Montanaro, Federica Alice Maria;
Alfieri, Paolo;
Vicari, Stefano

Publication type:

Article

Fragile X Syndrome: Recent Research Updates toward Capturing Treatments' Improvement in Clinical Trials.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 10, p. 1276, doi. 10.3390/brainsci12101276

By:

Budimirovic, Dejan B.;
Protic, Dragana D.

Publication type:

Article

Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 9, p. 1129, doi. 10.3390/brainsci12091129

By:

Guy, Maggie W.;
Richards, John E.;
Roberts, Jane E.

Publication type:

Article

Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 575, doi. 10.3390/brainsci12050575

By:

Hoffmann, Anne;
Thurman, Angela John;
Sterling, Audra;
Kover, Sara T.;
Finestack, Lizabeth;
Berry-Kravis, Elizabeth;
Edgin, Jamie O.;
Drayton, Andrea;
Fombonne, Eric;
Abbeduto, Leonard

Publication type:

Article

Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 385, doi. 10.3390/brainsci12030385

By:

Diez-Itza, Eliseo;
Viejo, Aitana;
Fernández-Urquiza, Maite

Publication type:

Article

Genetics and Clinical Neuroscience in Intellectual Disability.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 338, doi. 10.3390/brainsci12030338

By:

Romano, Corrado

Publication type:

Article

Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 314, doi. 10.3390/brainsci12030314

By:

Brašić, James Robert;
Goodman, Jack Alexander;
Nandi, Ayon;
Russell, David S.;
Jennings, Danna;
Barret, Olivier;
Martin, Samuel D.;
Slifer, Keith;
Sedlak, Thomas;
Mathur, Anil Kumar;
Seibyl, John P.;
Berry-Kravis, Elizabeth M.;
Wong, Dean F.;
Budimirovic, Dejan B.

Publication type:

Article

Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 8, doi. 10.3390/brainsci12010008

By:

Alfieri, Paolo;
Scibelli, Francesco;
Casula, Laura;
Piga, Simone;
Napoli, Eleonora;
Valeri, Giovanni;
Vicari, Stefano

Publication type:

Article

Sex Differences in Dopamine Receptor Signaling in Fmr1 Knockout Mice: A Pilot Study.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 11, p. 1398, doi. 10.3390/brainsci11111398

By:

Jiang, Anlong;
Wang, Le;
Lu, Justin Y. D.;
Freeman, Amy;
Campbell, Charlie;
Su, Ping;
Wong, Albert H. C.;
Liu, Fang

Publication type:

Article