المؤلفون: Miles KD; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Barker CM; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Russell KP; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Appel BH; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045., Doll CA; Section of Developmental Biology, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, Colorado 80045 caleb.doll@cuanschutz.edu.

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2024 Jul 31; Vol. 44 (31). Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish* , Fragile X Syndrome*/physiopathology , Fragile X Syndrome*/genetics , Electrical Synapses*/physiology , Zebrafish Proteins*/genetics , Zebrafish Proteins*/metabolism , Motor Neurons*/physiology, Animals ; Disease Models, Animal ; Connexins/genetics ; Connexins/metabolism ; Animals, Genetically Modified ; Hyperkinesis/physiopathology ; Interneurons/physiology ; Interneurons/metabolism ; Gap Junctions/drug effects ; Gap Junctions/metabolism ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism

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: 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: Luque MA; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain., Morcuende S; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain., Torres B; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain., Herrero L; Departamento Fisiología, Facultad de Biología, Universidad de Sevilla, Sevilla, Spain.

المصدر: The Journal of physiology [J Physiol] 2024 Aug; Vol. 602 (15), pp. 3769-3791. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cambridge Univ. Press Country of Publication: England NLM ID: 0266262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7793 (Electronic) Linking ISSN: 00223751 NLM ISO Abbreviation: J Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Action Potentials* , CA1 Region, Hippocampal*/physiopathology , CA1 Region, Hippocampal*/metabolism , Fragile X Mental Retardation Protein*/genetics , Phenylenediamines*/pharmacology , Pyramidal Cells*/physiology , Pyramidal Cells*/metabolism , Pyramidal Cells*/drug effects, Animals ; Male ; Mice ; Anthracenes/pharmacology ; Carbamates/pharmacology ; Fragile X Syndrome/physiopathology ; Fragile X Syndrome/genetics ; KCNQ2 Potassium Channel/genetics ; KCNQ2 Potassium Channel/metabolism ; KCNQ3 Potassium Channel/genetics ; KCNQ3 Potassium Channel/metabolism ; Mice, Inbred C57BL ; Mice, Knockout ; Nerve Tissue Proteins

المؤلفون: Khan S; Sheffield Teaching Hospitals NHS Trust, Sheffield, UK., Williams S; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Cosgrove J; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Bamford J; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Alty J; Leeds Teaching Hospitals NHS Trust, Leeds, UK.; College of Health and Medicine, University of Tasmania, Hobart, Australia.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug; Vol. 11 (8), pp. 1038-1040. Date of Electronic Publication: 2024 May 30.

نوع المنشور: Case Reports; Journal Article; Letter

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia*/genetics , Fragile X Syndrome*/genetics , Fragile X Syndrome*/complications , Fragile X Syndrome*/physiopathology , Phenotype* , Tremor*/genetics , Tremor*/physiopathology, Female ; Humans ; Dysphonia/etiology ; Fragile X Mental Retardation Protein/genetics ; Aged ; Aged, 80 and over

SCR Disease Name: Fragile X Tremor Ataxia Syndrome

المؤلفون: Klusek J; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia., Will E; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia., Christensen T; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia., Caravella K; Department of Psychiatry, Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill School of Medicine., Hogan A; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia., Sun J; Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia., Smith J; Department of Psychology, University of South Carolina, Columbia., Fairchild AJ; Department of Psychology, University of South Carolina, Columbia., Roberts JE; Department of Psychology, University of South Carolina, Columbia.

المصدر: Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2024 Jul 09; Vol. 67 (7), pp. 2316-2332. Date of Electronic Publication: 2024 Jun 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Speech-Language-Hearing Association Country of Publication: United States NLM ID: 9705610 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-9102 (Electronic) Linking ISSN: 10924388 NLM ISO Abbreviation: J Speech Lang Hear Res Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics, Humans ; Male ; Female ; Child, Preschool ; Fragile X Syndrome/genetics ; Fragile X Syndrome/psychology ; Mutation ; Language Development Disorders/genetics ; Language Development Disorders/psychology ; Social Communication Disorder/genetics ; Social Communication Disorder/psychology

المؤلفون: Protic D; Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine University of Belgrade, Belgrade, Serbia.; Fragile X Clinic, Special Hospital for Cerebral Palsy and Developmental Neurology, Belgrade, Serbia., Hagerman R; Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, CA, USA.; Department of Pediatrics, University of California, Davis School of Medicine, Sacramento, CA, USA.

المصدر: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Jul; Vol. 66 (7), pp. 863-871. Date of Electronic Publication: 2024 Feb 22.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Syndrome*/therapy , Fragile X Syndrome*/genetics , Fragile X Syndrome*/drug therapy , Genetic Therapy*, Humans ; Fragile X Mental Retardation Protein/genetics

المؤلفون: Rodrigues B; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal.; ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal., Sousa V; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal.; ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal.; Cytogenetics Laboratory, Department of Microscopy, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal., Yrigollen CM; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Tassone F; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Stockton Blvd, USA.; MIND Institute, School of Medicine, University of California, Davis, CA, USA., Villate O; Pediatric Oncology Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Biscay, Basque Country, Spain., Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Glicksman A; New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA., Tortora N; New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA., Nolin SL; New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA., Nogueira AJA; CESAM - Center for Environmental and Marine Studies, Department of Biology, University of Aveiro, Aveiro, Portugal., Jorge P; Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Porto, Portugal. paulajorge.icbas@gmail.com.; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal. paulajorge.icbas@gmail.com.; ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal. paulajorge.icbas@gmail.com.; Cytogenetics Laboratory, Department of Microscopy, ICBAS - School of Medicine and Biomedical Sciences, UPorto - University of Porto, Porto, Portugal. paulajorge.icbas@gmail.com.

المصدر: Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Jun 21; Vol. 22 (1), pp. 71. Date of Electronic Publication: 2024 Jun 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101153627 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-7827 (Electronic) Linking ISSN: 14777827 NLM ISO Abbreviation: Reprod Biol Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Amenorrhea*/genetics , Alleles* , Primary Ovarian Insufficiency*/genetics, Humans ; Female ; Adult ; Heterozygote ; Mutation ; Fragile X Syndrome/genetics ; Age Factors ; Young Adult ; Adolescent