المؤلفون: Messaoudi S; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France., Allam A; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France., Stoufflet J; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France.; Laboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, University of Liège, CHU Sart Tilman, Liège, Belgium., Paillard T; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France., Le Ven A; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France.; Institut Curie, Paris, France., Fouquet C; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France., Doulazmi M; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France., Trembleau A; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France., Caille I; Sorbonne Université, CNRS UMR8246, Inserm U1130, Institut de Biologie Paris Seine (IBPS), Neuroscience Paris Seine (NPS), Paris, France.; Université de Paris, Paris, France.

المصدر: ELife [Elife] 2024 May 17; Vol. 12. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Cell Movement* , Fragile X Mental Retardation Protein*/metabolism , Fragile X Mental Retardation Protein*/genetics , Microtubule-Associated Proteins*/metabolism , Microtubule-Associated Proteins*/genetics , Neurons*/metabolism, Animals ; Mice ; Fragile X Syndrome/metabolism ; Fragile X Syndrome/genetics ; Gene Knockdown Techniques ; Mice, Knockout

المؤلفون: Abbasi DA; Departments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States of America., Berry-Kravis E; Departments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States of America., Zhao X; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, United States of America., Cologna SM; Department of Chemistry, University of Illinois Chicago, Chicago, IL 60607, United States of America. Electronic address: cologna@uic.edu.

المصدر: Neurobiology of disease [Neurobiol Dis] 2024 May; Vol. 194, pp. 106486. Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/genetics , Fragile X Syndrome*/therapy , Fragile X Syndrome*/metabolism, Humans ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Proteomics ; Gene Expression Regulation

المؤلفون: Dionne O; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada. Electronic address: olivier.dionne@usherbrooke.ca., Abolghasemi A; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada., Corbin F; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada., Çaku A; Biochemistry and Functional Genomic Department, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Canada.

المصدر: Psychiatry research [Psychiatry Res] 2024 Jul; Vol. 337, pp. 115962. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Ireland NLM ID: 7911385 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7123 (Electronic) Linking ISSN: 01651781 NLM ISO Abbreviation: Psychiatry Res Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/metabolism , Fragile X Syndrome*/physiopathology , Endocannabinoids*/metabolism, Humans ; Animals ; Metabolic Networks and Pathways ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism

المؤلفون: Manduca A; Dept. Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy; Dept. Science, Roma Tre University, Rome, Italy; Neuroendocrinology, Metabolism and Neuropharmacology Unit, IRCCS Fondazione Santa Lucia, Rome, Italy. Electronic address: antonia.manduca@uniroma1.it., Buzzelli V; Dept. Science, Roma Tre University, Rome, Italy., Rava A; Dept. Science, Roma Tre University, Rome, Italy., Feo A; Dept. Science, Roma Tre University, Rome, Italy., Carbone E; Dept. Science, Roma Tre University, Rome, Italy., Schiavi S; Dept. Science, Roma Tre University, Rome, Italy., Peruzzi B; Bone Physiopathology Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., D'Oria V; Confocal Microscopy Core Facility, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pezzullo M; Histology Core Facility, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pasquadibisceglie A; Dept. Science, Roma Tre University, Rome, Italy., Polticelli F; Dept. Science, Roma Tre University, Rome, Italy., Micale V; Dept. Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy., Kuchar M; Forensic Laboratory of Biologically Active Substances, Dept. Chemistry of Natural Compounds, University of Chemistry and Technologies, Prague, Czech Republic; Psychedelic Research Center, National Institute of Mental Health, Klecany, Czech Republic., Trezza V; Dept. Science, Roma Tre University, Rome, Italy; Neuroendocrinology, Metabolism and Neuropharmacology Unit, IRCCS Fondazione Santa Lucia, Rome, Italy. Electronic address: viviana.trezza@uniroma3.it.

المصدر: Pharmacological research [Pharmacol Res] 2024 May; Vol. 203, pp. 107176. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8907422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-1186 (Electronic) Linking ISSN: 10436618 NLM ISO Abbreviation: Pharmacol Res Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/drug therapy , Fragile X Syndrome*/metabolism , Cannabidiol*/pharmacology , Cannabidiol*/therapeutic use , Receptors, Cannabinoid*/metabolism , Disease Models, Animal* , Recognition, Psychology*/drug effects , Hippocampus*/drug effects , Hippocampus*/metabolism, Animals ; Male ; Rats ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Mental Retardation Protein/genetics ; CA1 Region, Hippocampal/drug effects ; CA1 Region, Hippocampal/metabolism ; Memory/drug effects ; Receptors, G-Protein-Coupled/metabolism ; Molecular Docking Simulation

المؤلفون: Verpeut JL; Department of Psychology, Arizona State University, Tempe, United States.

المصدر: ELife [Elife] 2024 Jul 16; Vol. 13. Date of Electronic Publication: 2024 Jul 16.

نوع المنشور: Journal Article; Editorial

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/physiopathology , Cerebellum*/physiology , Disease Models, Animal* , Learning*, Animals ; Mice ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism

المؤلفون: Le Poulennec T; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: tiphaine.lepoulennec@aphp.fr., Dubreuil S; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France., Grynberg M; Departement of Reproductive Medicine Clamart, hôpital Béclère, AP-HP, France; Hôpital Béclère, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France., Chabbert-Buffet N; Departement of Obstetrics Gynecology and Reproductive Medicine, hôpital Tenon, AP-HP, Sorbonne université médecine, Paris, France; Hôpital Tenon, 4, rue de la Chine, 75020 Paris, France., Sermondade N; Hôpital Tenon, 4, rue de la Chine, 75020 Paris, France; Departement of Reproductive Biology, hôpital Tenon, AP-HP, Sorbonne université médecine, Paris, France., Fourati S; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France; Departement of Endocrine Biochemistry and oncology, hôpital Pitié-Salpêtrière-Charles-Foix, AP-HP, Paris, France., Siffroi JP; Genetics Departement, Inserm UMR_S_933, hôpital Armand-Trousseau, AP-HP, Paris, France; Hôpital Armand-Trousseau, 26, avenue du Dr Arnold-Netter, 75012 Paris, France., Héron D; Genetics Department, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France., Bachelot A; Departement of Endocrinology and Reproductive Medicine, centre de référence des maladies endocriniennes rares de la croissance et du développement, centre de référence des pathologies gynécologiques rares, IE3M, hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Sorbonne université médecine, Paris, France; Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France.

المصدر: Annales d'endocrinologie [Ann Endocrinol (Paris)] 2024 Jul; Vol. 85 (4), pp. 269-275. Date of Electronic Publication: 2024 May 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: France NLM ID: 0116744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-3941 (Electronic) Linking ISSN: 00034266 NLM ISO Abbreviation: Ann Endocrinol (Paris) Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Ovarian Reserve*/physiology , Ovarian Reserve*/genetics , Primary Ovarian Insufficiency*/genetics , Fertility Preservation*/methods, Humans ; Female ; Adult ; Retrospective Studies ; Pregnancy ; Mutation ; Fragile X Syndrome/genetics ; Fragile X Syndrome/epidemiology ; Infertility, Female/genetics ; Infertility, Female/etiology ; Infertility, Female/therapy ; Cohort Studies ; Anti-Mullerian Hormone/blood

المؤلفون: Sandoval SO; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Neuroscience Training Program, University of Wisconsin-Madison, Madison, WI, 53705, USA., Méndez-Albelo NM; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Molecular Cellular Pharmacology Training Program, University of Wisconsin-Madison, Madison, WI, 53705, USA., Xu Z; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Graduate Program in Cell and Molecular Biology, University of Wisconsin-Madison, Madison, WI, 53705, USA., Zhao X; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA. xinyu.zhao@wisc.edu.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA. xinyu.zhao@wisc.edu.

المصدر: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Jun 13; Vol. 16 (1), pp. 30. Date of Electronic Publication: 2024 Jun 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

مواضيع طبية MeSH: Disease Models, Animal* , Fragile X Syndrome*/genetics , Fragile X Syndrome*/physiopathology, Animals ; Humans ; Fragile X Mental Retardation Protein/genetics ; Pluripotent Stem Cells

المؤلفون: Agusti I; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain.; CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Wijngaard R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Borras A; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Barcos T; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain., Peralta S; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Guimera M; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Goday A; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Manau D; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain. lbodi@clinic.cat.; CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. lbodi@clinic.cat.

المصدر: Journal of ovarian research [J Ovarian Res] 2024 May 17; Vol. 17 (1), pp. 103. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101474849 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-2215 (Electronic) Linking ISSN: 17572215 NLM ISO Abbreviation: J Ovarian Res Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Ovarian Reserve*/genetics , Biomarkers*/blood , Anti-Mullerian Hormone*/blood , Primary Ovarian Insufficiency*/genetics , Primary Ovarian Insufficiency*/blood, Humans ; Female ; Adult ; Heterozygote ; Fragile X Syndrome/genetics ; Fragile X Syndrome/blood ; Mutation ; Ovarian Follicle/metabolism ; Young Adult

المؤلفون: Zhong S; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Liu J; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Lian Y; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Zhou B; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Wang X; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.; The State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, China., Ding J; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China. ding.jing@zs-hospital.sh.cn.; CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai, China. ding.jing@zs-hospital.sh.cn.

المصدر: BMC neurology [BMC Neurol] 2024 May 07; Vol. 24 (1), pp. 154. Date of Electronic Publication: 2024 May 07.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia*/diagnosis , Ataxia*/genetics , Encephalitis*/diagnosis , Encephalitis*/complications , Encephalitis*/genetics , Encephalitis*/pathology , Fragile X Syndrome*/genetics , Fragile X Syndrome*/diagnosis , Fragile X Syndrome*/complications , Tremor*/diagnosis , Tremor*/genetics , Tremor*/etiology, Humans ; Diagnosis, Differential ; Fragile X Mental Retardation Protein/genetics ; Intranuclear Inclusion Bodies/pathology ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/complications

SCR Disease Name: Fragile X Tremor Ataxia Syndrome; Neuronal intranuclear inclusion disease

المؤلفون: Ramírez-Cheyne J; Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia., López D; Department of Biological Science, Faculty of Agricultural Sciences, Universidad Nacional de Colombia, Palmira, Colombia., Payán-Gómez C; Dirección Académica, Universidad Nacional de Colombia. Sede de La Paz. Cesar, Colombia., Arcos-Burgos M; Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia., Saldarriaga W; Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63523. Date of Electronic Publication: 2024 Jan 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/epidemiology , Fragile X Syndrome*/genetics, Male ; Humans ; Female ; Founder Effect ; Molecular Epidemiology ; Fragile X Mental Retardation Protein/genetics ; Trinucleotide Repeat Expansion ; Mutation