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Wyszukujesz frazę ""Fragile X Syndrome"" wg kryterium: Temat


Starter badań:

Tytuł :
(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders.
Autorzy :
Zhao X; Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 25; Vol. 22 (17). Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Trinucleotide Repeat Expansion*
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
Animals ; Fragile X Mental Retardation Protein/chemistry ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/metabolism ; Fragile X Syndrome/pathology ; Humans
Czasopismo naukowe
Tytuł :
Parental Reports on Early Autism Behaviors in Their Children with Fragile X Syndrome as a Function of Infant Feeding.
Autorzy :
Westmark CJ; Department of Neurology, Molecular & Environmental Toxicology Center, University of Wisconsin, Madison, WI 53706, USA.
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Źródło :
Nutrients [Nutrients] 2021 Aug 22; Vol. 13 (8). Date of Electronic Publication: 2021 Aug 22.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder/*epidemiology
Feeding Behavior/*psychology
Fragile X Syndrome/*psychology
Infant Formula/*statistics & numerical data
Infant Nutritional Physiological Phenomena/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Comorbidity ; Female ; Fragile X Syndrome/physiopathology ; Gastrointestinal Diseases/epidemiology ; Gastrointestinal Diseases/genetics ; Humans ; Infant ; Male ; Nutrition Surveys ; Parents ; Prevalence ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.
Autorzy :
Valor LM; Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), 03010 Alicante, Spain.; Laboratorio de Apoyo a la Investigación, Hospital General Universitario de Alicante, Av. Pintor Baeza 12, 03010 Alicante, Spain.; Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), 11009 Cádiz, Spain.; Unidad de Investigación, Hospital Universitario Puerta del Mar, Av. Ana de Viya 21, 11009 Cádiz, Spain.
Morales JC; Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), 11009 Cádiz, Spain.; Unidad de Investigación, Hospital Universitario Puerta del Mar, Av. Ana de Viya 21, 11009 Cádiz, Spain.
Hervás-Corpión I; Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), 11009 Cádiz, Spain.; Unidad de Investigación, Hospital Universitario Puerta del Mar, Av. Ana de Viya 21, 11009 Cádiz, Spain.
Marín R; Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), 11009 Cádiz, Spain.; Unidad de Genética, Hospital Universitario Puerta del Mar, Av. Ana de Viya 21, 11009 Cádiz, Spain.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 04; Vol. 22 (16). Date of Electronic Publication: 2021 Aug 04.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Ataxia/*pathology
Fragile X Syndrome/*pathology
Primary Ovarian Insufficiency/*pathology
Tremor/*pathology
Adult ; Animals ; Ataxia/genetics ; Ataxia/physiopathology ; Female ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/genetics ; Fragile X Syndrome/physiopathology ; Gene Expression Regulation ; Humans ; Male ; MicroRNAs/genetics ; Mitochondria/genetics ; Mitochondria/pathology ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/physiopathology ; Tremor/genetics ; Tremor/physiopathology ; Trinucleotide Repeat Expansion
SCR Disease Name :
Fragile X Tremor Ataxia Syndrome
Czasopismo naukowe
Tytuł :
Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.
Autorzy :
Salcedo-Arellano MJ; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Wang JY; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.; Center for Mind and Brain, University of California Davis, Davis, California, USA.
McLennan YA; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.
Doan M; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Cabal-Herrera AM; Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle (MACOS), Cali, Colombia.
Jimenez S; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Wolf-Ochoa MW; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Sanchez D; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Juarez P; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Tassone F; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, UC Davis School of Medicine, Sacramento, California, USA.
Durbin-Johnson B; Division of Biostatistics, Department of Public Health Sciences, UC Davis School of Medicine, Sacramento, California, USA.
Hagerman RJ; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.
Martínez-Cerdeño V; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California, USA.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, California, USA.; Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, California, USA.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Aug; Vol. 36 (8), pp. 1935-1943. Date of Electronic Publication: 2021 Mar 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Syndrome*/complications
Fragile X Syndrome*/genetics
Neurodegenerative Diseases*
Ataxia/complications ; Ataxia/genetics ; Cerebral Hemorrhage/complications ; Cerebral Hemorrhage/diagnostic imaging ; Endothelial Cells ; Fragile X Mental Retardation Protein/genetics ; Humans ; Tremor/complications ; Tremor/genetics
Czasopismo naukowe
Tytuł :
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.
Autorzy :
Erbs E; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark. Electronic address: .
Fenger-Grøn J; Department of Paediatrics, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.
Jacobsen CM; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark.
Lildballe DL; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark.
Rasmussen M; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Aug; Vol. 64 (8), pp. 104244. Date of Electronic Publication: 2021 May 20.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
5' Untranslated Regions ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/pathology ; Humans ; Infant ; Male ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł :
Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.
Autorzy :
Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. .
Charen K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Hipp HS; Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, GA, USA.
Shubeck L; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Amin A; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
He W; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Nolin SL; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Glicksman A; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Tortora N; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
McKinnon B; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Shelly KE; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1648-1655. Date of Electronic Publication: 2021 Apr 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Syndrome*/genetics
Menopause, Premature*
Primary Ovarian Insufficiency*/genetics
Female ; Fragile X Mental Retardation Protein/genetics ; Humans
Czasopismo naukowe
Tytuł :
Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS.
Autorzy :
Wang J; Center for Mind and Brain, University of California Davis, Davis, CA 95618, USA.
Napoli E; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA 95616, USA.
Kim K; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.; Department of Public Health Sciences, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
McLennan YA; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.; Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.
Hagerman RJ; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.; Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.
Giulivi C; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA 95616, USA.; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 25; Vol. 22 (17). Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Journal Article
MeSH Terms :
Adenosine Triphosphate/*metabolism
Aging/*metabolism
Ataxia/*metabolism
Brain/*diagnostic imaging
Fragile X Syndrome/*metabolism
Monocytes/*metabolism
Tremor/*metabolism
White Matter/*diagnostic imaging
Adult ; Aged ; Ataxia/diagnostic imaging ; Brain/growth & development ; Cells, Cultured ; Energy Metabolism ; Female ; Flavin-Adenine Dinucleotide/analogs & derivatives ; Flavin-Adenine Dinucleotide/metabolism ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/diagnostic imaging ; Humans ; Male ; Middle Aged ; Mitochondria/metabolism ; Tremor/diagnostic imaging ; White Matter/growth & development
SCR Disease Name :
Fragile X Tremor Ataxia Syndrome
Czasopismo naukowe
Tytuł :
Men with an FMR1 premutation and their health education needs.
Autorzy :
Walsh MB; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Charen K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Shubeck L; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
McConkie-Rosell A; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Ali N; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Bellcross C; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
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Źródło :
Journal of genetic counseling [J Genet Couns] 2021 Aug; Vol. 30 (4), pp. 1156-1167. Date of Electronic Publication: 2021 Mar 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Syndrome*/genetics
Quality of Life*
Ataxia ; Fragile X Mental Retardation Protein/genetics ; Genetic Predisposition to Disease ; Health Education ; Humans ; Male
Czasopismo naukowe
Tytuł :
Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior.
Autorzy :
Joga-Elvira L; Department of Psychiatry and Forensic Medicine, Facultat de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain.; Division of Neuropediatrics, Corporación Sanitaria Parc Taulí, Sabadell, Spain.
Roche-Martínez A; Division of Neuropediatrics, Corporación Sanitaria Parc Taulí, Sabadell, Spain.
Joga ML; Division of Mental Health, Hospital San Joan de Deu, Barcelona, Spain.
Jacas-Escarcelle C; Departament de Psicologia Clínica i de la Salut, Universitat Autònoma de Barcelona, Barcelona, Spain.; Division of Psychiatry Service, Hospital Universitari Vall Hebron, Barcelona, Spain.
Brun-Gasca C; Division of Neuropediatrics, Corporación Sanitaria Parc Taulí, Sabadell, Spain.; Departament de Psicologia Clínica i de la Salut, Universitat Autònoma de Barcelona, Barcelona, Spain.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 May; Vol. 185 (5), pp. 1448-1460. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Speech-Language Pathology*
Adaptation, Psychological/*physiology
Fragile X Syndrome/*physiopathology
Intellectual Disability/*physiopathology
Adolescent ; Child ; Female ; Fragile X Syndrome/complications ; Fragile X Syndrome/epidemiology ; Fragile X Syndrome/genetics ; Humans ; Intellectual Disability/complications ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Social Behavior ; Social Perception/psychology ; Social Skills
Czasopismo naukowe
Tytuł :
Dysregulated CRMP Mediates Circadian Deficits in a Drosophila Model of Fragile X Syndrome.
Autorzy :
Zhao J; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.
Xue J; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.
Zhu T; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.
He H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.
Kang H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.
Jiang X; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.
Huang W; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China. .; Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, 410078, China. .; Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, 410078, China. .
Duan R; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China. .; Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, 410078, China. .; Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, 410078, China. .
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Źródło :
Neuroscience bulletin [Neurosci Bull] 2021 Jul; Vol. 37 (7), pp. 973-984. Date of Electronic Publication: 2021 Apr 15.
Typ publikacji :
Journal Article
MeSH Terms :
Fragile X Syndrome*/genetics
Animals ; Drosophila ; Fragile X Mental Retardation Protein/genetics ; Neurons
Czasopismo naukowe
Tytuł :
Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Autorzy :
Movaghar A; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Page D; Department of Biostatistics and Bioinformatics, Duke University, Durham, NC, USA.
Scholze D; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Hong J; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.
DaWalt LS; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Kuusisto F; Morgridge Institute for Research, Madison, WI, USA.
Stewart R; Morgridge Institute for Research, Madison, WI, USA.
Brilliant M; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.; Marshfield Clinic Research Institute, Marshfield, WI, USA.
Mailick M; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jul; Vol. 23 (7), pp. 1273-1280. Date of Electronic Publication: 2021 Mar 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/epidemiology
Fragile X Syndrome*/genetics
Intellectual Disability*/diagnosis
Intellectual Disability*/epidemiology
Intellectual Disability*/genetics
Artificial Intelligence ; Humans ; Machine Learning ; Phenotype
Czasopismo naukowe
Tytuł :
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.
Autorzy :
Gu H; Department of Laboratory Medicine, Graduate School, Kyung Hee University, Seoul, Korea.
Kim MJ; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yang D; Department of Laboratory Medicine, Kosin University Gospel Hospital, Busan, Korea.
Song JY; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.; Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.
Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.; Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.
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Źródło :
Annals of laboratory medicine [Ann Lab Med] 2021 Jul 01; Vol. 41 (4), pp. 394-400.
Typ publikacji :
Journal Article
MeSH Terms :
Fragile X Syndrome*/genetics
Alleles ; Blotting, Southern ; Female ; Fragile X Mental Retardation Protein/genetics ; Humans ; Male ; Mutation ; Polymerase Chain Reaction ; Trinucleotide Repeats
Czasopismo naukowe
Tytuł :
Deep brain stimulation in Fragile X syndrome with tardive dystonia.
Autorzy :
Bove F; Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy.; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Piano C; Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy. .
Bentivoglio AR; Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy.; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Chiurazzi P; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Tufo T; Neurosurgery Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jul; Vol. 42 (7), pp. 2987-2989. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Letter
MeSH Terms :
Deep Brain Stimulation*
Fragile X Syndrome*/complications
Fragile X Syndrome*/therapy
Movement Disorders*/therapy
Tardive Dyskinesia*/therapy
Globus Pallidus ; Humans
Opinia redakcyjna
Tytuł :
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.
Autorzy :
Domniz N; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Levavi LR; The Genetic Institute, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Berkenstadt M; The Genetic Institute, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pras E; The Genetic Institute, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Cohen Y; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Raanani H; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Goldstein DB; Genetic Institute at Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Department of Obstetrics and Gynecology, Lis Maternity Hospital at Tel Aviv Sourasky Medical Center, Aviv-Yafo, Israel.
Yaron Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetic Institute at Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Elizur S; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ben-Shachar S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. .; Clalit Research Institute, Ramat Gan, Israel. .; Schneider Children's Medical Center, Petah Tikva, Israel. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1023-1027. Date of Electronic Publication: 2021 Jan 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Mental Retardation Protein*/genetics
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/genetics
Alleles ; Female ; Heterozygote ; Humans ; Israel/epidemiology ; Mutation ; Trinucleotide Repeat Expansion/genetics
Czasopismo naukowe
Tytuł :
Sex differences in resting EEG power in Fragile X Syndrome.
Autorzy :
Smith EG; Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, 3230 Eden Avenue, Cincinnati, OH 45267, USA. Electronic address: .
Pedapati EV; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, 3230 Eden Avenue, Cincinnati, OH 45267, USA; Department of Psychiatry, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Liu R; Department of Psychiatry, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Schmitt LM; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, 3230 Eden Avenue, Cincinnati, OH 45267, USA; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Dominick KC; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, 3230 Eden Avenue, Cincinnati, OH 45267, USA; Department of Psychiatry, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Shaffer RC; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, 3230 Eden Avenue, Cincinnati, OH 45267, USA; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Sweeney JA; Department of Psychiatry, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Erickson CA; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, 3230 Eden Avenue, Cincinnati, OH 45267, USA; Department of Psychiatry, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
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Źródło :
Journal of psychiatric research [J Psychiatr Res] 2021 Jun; Vol. 138, pp. 89-95. Date of Electronic Publication: 2021 Mar 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Syndrome*
Biomarkers ; Electroencephalography ; Female ; Humans ; Male ; Sex Characteristics
Czasopismo naukowe
Tytuł :
Role of FMRP in rapid antidepressant effects and synapse regulation.
Autorzy :
Heaney CF; Department of Physiology and Pharmacology, Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.; Wake Forest Translational Alcohol Research Center (WF-TARC), Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.
Namjoshi SV; Department of Physiology and Pharmacology, Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.
Uneri A; Department of Physiology and Pharmacology, Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.
Bach EC; Department of Physiology and Pharmacology, Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.; Wake Forest Translational Alcohol Research Center (WF-TARC), Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.
Weiner JL; Department of Physiology and Pharmacology, Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.; Wake Forest Translational Alcohol Research Center (WF-TARC), Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA.
Raab-Graham KF; Department of Physiology and Pharmacology, Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA. .; Wake Forest Translational Alcohol Research Center (WF-TARC), Wake Forest University Health Sciences, 1 Medical Center Boulevard, Winston-Salem, NC, 27157, USA. .
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Źródło :
Molecular psychiatry [Mol Psychiatry] 2021 Jun; Vol. 26 (6), pp. 2350-2362. Date of Electronic Publication: 2021 Jan 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Depressive Disorder, Major*/drug therapy
Fragile X Syndrome*/drug therapy
Fragile X Syndrome*/genetics
Animals ; Antidepressive Agents/pharmacology ; Fragile X Mental Retardation Protein/genetics ; Humans ; Synapses
Czasopismo naukowe
Tytuł :
Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene.
Autorzy :
Nolin SL; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
Napoli E; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
Flores A; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.; Medical Sciences Campus, Department of Biochemistry, University of Puerto Rico, PR00936 San Juan, Puerto Rico.
Hagerman RJ; Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.
Giulivi C; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 May 30; Vol. 22 (11). Date of Electronic Publication: 2021 May 30.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Autistic Disorder/*genetics
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
Mitochondria/*genetics
Serine/*deficiency
5' Untranslated Regions ; Adult ; Amniocentesis ; Amniotic Fluid/chemistry ; Autistic Disorder/diagnosis ; Autistic Disorder/metabolism ; Autistic Disorder/pathology ; Citric Acid Cycle/genetics ; Female ; Fetus ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/metabolism ; Fragile X Syndrome/pathology ; Gene Expression ; Genetic Complementation Test ; Heterozygote ; Humans ; Male ; Metabolomics/methods ; Mitochondria/metabolism ; Mitochondria/pathology ; Pregnancy ; Primary Cell Culture ; Proteomics/methods ; Serine/biosynthesis ; Trinucleotide Repeats
Czasopismo naukowe
Tytuł :
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families.
Autorzy :
Di Giorgio E; Department of Developmental Psychology and Socialization, University of Padova, Via Venezia 8, 35131 Padova, Italy.
Polli R; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città Della Speranza, Corso Stati Uniti 4/F, 35127 Padova, Italy.
Lunghi M; Department of Developmental Psychology and Socialization, University of Padova, Via Venezia 8, 35131 Padova, Italy.
Murgia A; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città Della Speranza, Corso Stati Uniti 4/F, 35127 Padova, Italy.
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Źródło :
International journal of environmental research and public health [Int J Environ Res Public Health] 2021 May 27; Vol. 18 (11). Date of Electronic Publication: 2021 May 27.
Typ publikacji :
Journal Article
MeSH Terms :
COVID-19*
Fragile X Syndrome*
Child ; Communicable Disease Control ; Female ; Humans ; Italy/epidemiology ; Pandemics ; Retrospective Studies ; SARS-CoV-2
Czasopismo naukowe
Tytuł :
Hyperexcitability and Loss of Feedforward Inhibition Contribute to Aberrant Plasticity in the Fmr1 KO Amygdala.
Autorzy :
Svalina MN; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Medical Scientist Training Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Guthman EM; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Cea-Del Rio CA; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Centro de Investigación Biomédica y Aplicada, Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile, Santiago 9160000, Chile.
Kushner JK; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Baca SM; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Restrepo D; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Huntsman MM; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045 .; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pediatrics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
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Źródło :
ENeuro [eNeuro] 2021 May 11; Vol. 8 (3). Date of Electronic Publication: 2021 May 11 (Print Publication: 2021).
Typ publikacji :
Journal Article
MeSH Terms :
Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Fragile X Syndrome*/genetics
Amygdala/metabolism ; Animals ; Disease Models, Animal ; Mice ; Mice, Knockout ; Synapses/metabolism ; Synaptic Transmission
Czasopismo naukowe
Tytuł :
[Significance and case analysis of FMR1 mutation screening during early and middle pregnancy].
Autorzy :
Cao Q; The Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei 050011, China. .
Mu W
Sun D
Zhu J
Ge J
Peng Y
Zhang J
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 May 10; Vol. 38 (5), pp. 450-453.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/genetics
Female ; Fragile X Mental Retardation Protein/genetics ; Genetic Counseling ; Humans ; Mutation ; Pregnancy ; Trinucleotide Repeat Expansion ; Trinucleotide Repeats
Czasopismo naukowe

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