المؤلفون: Suleja A; Faculty of Medicine, Medical University of Silesia, Katowice, Poland.; Angelman Syndrome Project, PROT sp. z o.o., Bialystok, Poland., Milska-Musa K; Division of Quality of Life Research, Department of Psychology, Faculty of Health Sciences with the Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Gdansk, Poland., Przysło Ł; Department of Developmental Neurology and Epileptology, Research Institute of Polish Mother's Memorial Hospital, Lodz, Poland., Bednarczyk M; Angelman Syndrome Project, PROT sp. z o.o., Bialystok, Poland.; Department of Propaedeutics of Obstetrics, Faculty of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Kostecki M; Angelman Syndrome Project, PROT sp. z o.o., Bialystok, Poland., Cysewski D; Angelman Syndrome Project, PROT sp. z o.o., Bialystok, Poland.; Clinical Research Centre, Medical University of Bialystok, Bialystok, Poland., Matryba P; Department of Immunology, Faculty of Medicine, Medical University of Warsaw, Warsaw, Poland., Rozensztrauch A; Division of Family and Pediatric Nursing, Department of Nursing and Obstetrics, Faculty of Health Sciences, Wroclaw Medical University, Wroclaw, Poland.; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland., Dwornik M; Centre of Medical Rehabilitation and Osteopathy REHApunkt, Warsaw, Poland., Opacki M; Experimental Linguistics Lab, Faculty of Modern Languages, University of Warsaw, Warsaw, Poland., Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland. robert.smigiel@umw.edu.pl.; Uniwersyteckie Centrum Chorób Rzadkich, Wroclaw Medical University, Wroclaw, Poland. robert.smigiel@umw.edu.pl., Łukasiewicz K; Angelman Syndrome Project, PROT sp. z o.o., Bialystok, Poland. kacper.lukasiewicz@umb.edu.pl.; Experimental Medicine Centre, Medical University of Bialystok, Bialystok, Poland. kacper.lukasiewicz@umb.edu.pl.; Department of Psychiatry, Faculty of Medicine with the Division of Dentistry and Division of Medical Education In English, Medical University of Bialystok, Bialystok, Poland. kacper.lukasiewicz@umb.edu.pl.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 22; Vol. 19 (1), pp. 306. Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/diagnosis , Angelman Syndrome*/genetics, Humans ; Poland ; Male ; Female ; Child, Preschool ; Surveys and Questionnaires ; Child ; Infant ; Caregivers ; Adolescent ; Ubiquitin-Protein Ligases/genetics

المؤلفون: Gupta PK; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, 3103301, Israel., Barak S; Department of Chemistry and The Institute for Nanotechnology and Advanced Materials, Bar-Ilan University, Ramat Gan, 5290002, Israel., Feuermann Y; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, 3103301, Israel., Goobes G; Department of Chemistry and The Institute for Nanotechnology and Advanced Materials, Bar-Ilan University, Ramat Gan, 5290002, Israel., Kaphzan H; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, 3103301, Israel. hkaphzan@univ.haifa.ac.il.

المصدر: Molecular autism [Mol Autism] 2024 Jul 24; Vol. 15 (1), pp. 31. Date of Electronic Publication: 2024 Jul 24.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: Electronic Cited Medium: Internet ISSN: 2040-2392 (Electronic) NLM ISO Abbreviation: Mol Autism Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/metabolism , Angelman Syndrome*/genetics , Metabolomics* , Disease Models, Animal* , Brain*/metabolism , Brain*/diagnostic imaging , Proton Magnetic Resonance Spectroscopy*, Animals ; Mice ; Metabolome ; Ubiquitin-Protein Ligases/metabolism ; Ubiquitin-Protein Ligases/genetics ; Female

عنوان ترانسليتريتد: Síndrome de Angelman: abordaje actual y el futuro de las terapias.

المؤلفون: Sell E; Departamento de Neurología Pediátrica, Children's Hospital of Eastern Ontario, Canadá. E-mail: esell@cheo.on.ca., Heymans J; Estudiante de Medicina, University of Medicine and Health Sciences, Basseterre, St. Kitts and Nevis.

المصدر: Medicina [Medicina (B Aires)] 2024 Sep; Vol. 84 Suppl 3, pp. 15-20.

نوع المنشور: English Abstract; Journal Article; Review

بيانات الدورية: Publisher: Fundación Revista Medicina (Buenos Aires) Country of Publication: Argentina NLM ID: 0204271 Publication Model: Print Cited Medium: Internet ISSN: 1669-9106 (Electronic) Linking ISSN: 00257680 NLM ISO Abbreviation: Medicina (B Aires) Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/therapy , Angelman Syndrome*/genetics , Genetic Therapy*, Humans ; Oligonucleotides, Antisense/therapeutic use ; Ubiquitin-Protein Ligases/genetics ; Animals

المؤلفون: Bækgaard CH; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Møller-Larsen S; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lauridsen MF; Department of Clinical Genetics, Hospital Lillebaelt, Vejle Hospital, Vejle, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

المصدر: Annals of human genetics [Ann Hum Genet] 2024 Sep; Vol. 88 (5), pp. 392-398. Date of Electronic Publication: 2024 May 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/genetics , Angelman Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/diagnosis , DNA Methylation* , Nanopore Sequencing*/methods , Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis, Humans ; Nanopores ; Sequence Analysis, DNA/methods

المؤلفون: Holthöfer L; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Diederich S; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Haug V; Neuropediatrics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Lehmann L; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Hewel C; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Paul NW; Institute for History, Philosophy, and Ethics of Medicine, Johannes Gutenberg-University Medical Center Mainz, Mainz, Germany., Schweiger S; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Gerber S; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Linke M; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. matthias.linke@unimedizin-mainz.de.

المصدر: Clinical epigenetics [Clin Epigenetics] 2024 Aug 02; Vol. 16 (1), pp. 101. Date of Electronic Publication: 2024 Aug 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/genetics , Angelman Syndrome*/diagnosis , Ubiquitin-Protein Ligases*/genetics , Nanopore Sequencing*/methods , DNA Methylation*/genetics , Gene Duplication*/genetics, Humans ; Female ; Male ; Exons/genetics ; Pedigree ; Genomic Imprinting/genetics

المؤلفون: Kugalingam N, Silva D, Rathnayake P, Atapattu N, Ranaweera DM, Chandrasekharan NV

المصدر: Clinical laboratory [Clin Lab] 2024 Aug 01; Vol. 70 (8).

نوع المنشور: Journal Article; Evaluation Study

بيانات الدورية: Publisher: Clinical Laboratory Publications Country of Publication: Germany NLM ID: 9705611 Publication Model: Print Cited Medium: Internet ISSN: 1433-6510 (Print) Linking ISSN: 14336510 NLM ISO Abbreviation: Clin Lab Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis , Angelman Syndrome*/genetics , Angelman Syndrome*/diagnosis , Genetic Testing*/methods , Genetic Testing*/economics , DNA Methylation*, Humans ; Sri Lanka ; Female ; Male ; Child ; Child, Preschool ; Polymerase Chain Reaction/methods ; Adolescent ; Infant ; Reproducibility of Results

المؤلفون: Haake J; Department of Human and Animal Cell Lines, Leibniz Institute DSMZ - German Collection of Microorganisms and Cell Cultures GmbH, Braunschweig, Germany., Kaufmann M; Department of Human and Animal Cell Lines, Leibniz Institute DSMZ - German Collection of Microorganisms and Cell Cultures GmbH, Braunschweig, Germany., Steenpass L; Department of Human and Animal Cell Lines, Leibniz Institute DSMZ - German Collection of Microorganisms and Cell Cultures GmbH, Braunschweig, Germany; Technische Universität Braunschweig, Zoological Institute, Braunschweig, Germany. Electronic address: laura.steenpass@dsmz.de.

المصدر: Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103454. Date of Electronic Publication: 2024 Jun 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Angelman Syndrome*/genetics, Humans ; Cell Line

المؤلفون: Vihma H; Department of Cell Biology and Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Li K; Division of Chemical Biology and Medicinal Chemistry, UNC Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Welton-Arndt A; Department of Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Smith AL; Department of Cell Biology and Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Bettadapur KR; Department of Cell Biology and Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Gilmore RB; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA., Gao E; Department of Cell Biology and Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Cotney JL; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA., Huang HC; Deerfield Discovery and Development, Deerfield Management, New York, NY, USA., Collins JL; Office of the Vice Chancellor for Research, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Chamberlain SJ; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA., Lee HM; Department of Cell Biology and Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. dr.hmlee@gmail.com.; Department of Biochemistry and Molecular Biology, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC, USA. dr.hmlee@gmail.com., Aubé J; Division of Chemical Biology and Medicinal Chemistry, UNC Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. jaube@email.unc.edu.; Department of Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. jaube@email.unc.edu., Philpot BD; Department of Cell Biology and Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. bphilpot@med.unc.edu.

المصدر: Nature communications [Nat Commun] 2024 Jul 08; Vol. 15 (1), pp. 5558. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/genetics , Ubiquitin-Protein Ligases*/metabolism , Ubiquitin-Protein Ligases*/genetics , Neurons*/metabolism , Disease Models, Animal*, Animals ; Mice ; Humans ; Male ; Female ; RNA, Long Noncoding/genetics ; RNA, Long Noncoding/metabolism ; RNA, Messenger/metabolism ; RNA, Messenger/genetics ; Brain/metabolism

المؤلفون: O'Donohoe DS; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, University of Galway, Galway, Ireland., Whelan S; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, University of Galway, Galway, Ireland., Mannion A; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, University of Galway, Galway, Ireland., Tones M; EResearch, Queensland University of Technology, Brisbane, Australia., Heussler H; Children's Health and Hospital Services, QLD, Brisbane, Australia., Bellgard M; EResearch, Queensland University of Technology, Brisbane, Australia; University of East London, United Kingdom., Leader G; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, University of Galway, Galway, Ireland. Electronic address: geraldine.leader@universityofgalway.ie.

المصدر: Sleep medicine [Sleep Med] 2024 Nov; Vol. 123, pp. 1-6. Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100898759 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5506 (Electronic) Linking ISSN: 13899457 NLM ISO Abbreviation: Sleep Med Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/complications , Sleep Wake Disorders*/epidemiology , Problem Behavior*/psychology, Humans ; Male ; Child ; Female ; Adolescent ; Child, Preschool

المؤلفون: Krzeski JC; Department of Cell Biology & Physiology, University of North Carolina, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA., Judson MC; Department of Cell Biology & Physiology, University of North Carolina, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA., Philpot BD; Department of Cell Biology & Physiology, University of North Carolina, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA. Electronic address: bphilpot@med.unc.edu.

المصدر: Current opinion in neurobiology [Curr Opin Neurobiol] 2024 Oct; Vol. 88, pp. 102899. Date of Electronic Publication: 2024 Aug 09.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Current Biology Country of Publication: England NLM ID: 9111376 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-6882 (Electronic) Linking ISSN: 09594388 NLM ISO Abbreviation: Curr Opin Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/genetics , Angelman Syndrome*/therapy , Ubiquitin-Protein Ligases*/metabolism , Ubiquitin-Protein Ligases*/genetics , Neurons*/metabolism, Humans ; Animals