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Academic Journal

Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.

  • Authors : Suleja A; Faculty of Medicine, Medical University of Silesia, Katowice, Poland.; Angelman Syndrome Project, PROT sp. z o.o., Bialystok, Poland.

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/diagnosis ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics; Humans

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 22; Vol. 19 (1), pp. 306. Date of Electronic Publication: 2024 Aug 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.

  • Authors : 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.

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/therapy ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/metabolism

  • Source: Current opinion in neurobiology [Curr Opin Neurobiol] 2024 Oct; Vol. 88, pp. 102899. Date of Electronic Publication: 2024 Aug 09.Publisher: Current Biology Country of Publication: England NLM ID: 9111376 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Angelman syndrome: current approach and the future of therapies].

  • Authors : Sell E; Departamento de Neurología Pediátrica, Children's Hospital of Eastern Ontario, Canadá. E-mail: .; Heymans J

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/therapy ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics ; Genetic Therapy*

  • Source: Medicina [Medicina (B Aires)] 2024 Sep; Vol. 84 Suppl 3, pp. 15-20.Publisher: Fundación Revista Medicina (Buenos Aires) Country of Publication: Argentina NLM ID: 0204271 Publication Model: Print Cited Medium: Internet

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Academic Journal

A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing.

  • Authors : Holthöfer L; Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.; Diederich S

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/diagnosis ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics

  • Source: Clinical epigenetics [Clin Epigenetics] 2024 Aug 02; Vol. 16 (1), pp. 101. Date of Electronic Publication: 2024 Aug 02.Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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Academic Journal

Generation of three iPSC lines with inducible systems to be used in Angelman syndrome research.

  • Authors : Haake J; Department of Human and Animal Cell Lines, Leibniz Institute DSMZ - German Collection of Microorganisms and Cell Cultures GmbH, Braunschweig, Germany.; Kaufmann M

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics; Humans

  • Source: Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103454. Date of Electronic Publication: 2024 Jun 01.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome.

  • Authors : O'Donohoe DS; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, University of Galway, Galway, Ireland.; Whelan S

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/complications ; Sleep Wake Disorders*/Sleep Wake Disorders*/Sleep Wake Disorders*/epidemiology ; Problem Behavior*/Problem Behavior*/Problem Behavior*/psychology

  • Source: Sleep medicine [Sleep Med] 2024 Nov; Vol. 123, pp. 1-6. Date of Electronic Publication: 2024 Aug 22.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100898759 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

  • Authors : Bruns R; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Liaqat K

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/diagnosis ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics

  • Source: Congenital anomalies [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 155-160. Date of Electronic Publication: 2024 Mar 23.Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited

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Academic Journal

1 H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome.

  • Authors : Gupta PK; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, 3103301, Israel.; Barak S

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/metabolism ; Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/genetics ; Metabolomics*

  • Source: Molecular autism [Mol Autism] 2024 Jul 24; Vol. 15 (1), pp. 31. Date of Electronic Publication: 2024 Jul 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: Electronic Cited Medium: Internet ISSN: 2040-2392

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Academic Journal

Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory.

  • Authors : Chen D; Center for Health Measurement, Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA. .; Zigler CK

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/diagnosis ; Caregivers*/Caregivers*/Caregivers*/psychology ; Communication*

  • Source: Journal of patient-reported outcomes [J Patient Rep Outcomes] 2024 May 14; Vol. 8 (1), pp. 50. Date of Electronic Publication: 2024 May 14.Publisher: Springer International Publishing Country of Publication: Germany NLM ID: 101722688 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

Factors associated with sleep disturbances in children and adolescents with Angelman Syndrome.

  • Authors : Leader G; Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.; Killeen C

Subjects: Angelman Syndrome*/Angelman Syndrome*/Angelman Syndrome*/complications ; Sleep Wake Disorders*/Sleep Wake Disorders*/Sleep Wake Disorders*/complications ; Sleep Wake Disorders*/Sleep Wake Disorders*/Sleep Wake Disorders*/epidemiology

  • Source: Sleep medicine [Sleep Med] 2024 May; Vol. 117, pp. 9-17. Date of Electronic Publication: 2024 Mar 07.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100898759 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  38,366 results for ""Angelman Syndrome""