Search Results - "Bird LM"

Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics.

Authors: Frohlich J Chiang JN Mediano PAM et al.

Source: Communications biology [Commun Biol] 2023 Jan 13; Vol. 6 (1), pp. 41. Date of Electronic Publication: 2023 Jan 13.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE; PubMed not MEDLINE

Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases.

Authors: Acosta, Maria T. Zaragoza Domingo, Silvia Arango, Celso et al.

Source: Orphanet Journal of Rare Diseases. 10/17/2025, Vol. 20 Issue 1, p1-7. 7p.

Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.

Authors: Leffler M Woods RJ Sapp A et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2026 Feb 19; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 19.

Publication Type: Journal Article

Journal Info: 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

Evaluation of Perioperative Anesthetic Outcomes in Patients with Williams Syndrome Based on the Risk Stratification.

Authors: Kopparapu, Sai Charan Khajuria, Udit Babu, Saravana et al.

Source: Annals of Cardiac Anaesthesia. Apr-Jun2026, Vol. 29 Issue 2, p247-252. 6p.

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.

Authors: Iglesias Escalera, Gema Cazorla Calleja, Rosario Lorenzo Ruiz, María et al.

Source: Orphanet Journal of Rare Diseases. 10/21/2025, Vol. 20 Issue 1, p1-9. 9p.

Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.

Authors: Lubbers, Kyra Hiralal, Kamil R. Dieleman, Gwendolyn C. et al.

Source: Journal of Autism & Developmental Disorders. Feb2026, Vol. 56 Issue 2, p793-807. 15p.

Subjects: Scale analysis (Psychology), Statistical models, Research funding, Autism, Angelman syndrome, Executive function, Fragile X syndrome, Tuberous sclerosis, Neurofibromatosis 1, Disease prevalence, Severity of illness index, Classification of mental disorders, Multivariate analysis, Analysis of variance, Asperger's syndrome, Intelligence tests, Data analysis software, Symptoms

Geographic Terms: Netherlands

A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders.

Authors: Berg, Anne T. Burge, Christopher Conecker, Gabi et al.

Source: Orphanet Journal of Rare Diseases. 8/19/2025, Vol. 20 Issue 1, p1-17. 17p.

A NOTCH3 pathogenic variant influences osteogenesis and can be targeted by antisense oligonucleotides in induced pluripotent stem cells.

Authors: Canalis, Ernesto Yu, Jungeun Schilling, Lauren et al.

Source: PLoS ONE. 1/3/2025, Vol. 20 Issue 1, p1-17. 17p.

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Authors: Merton C Gwaltney A Booman A et al.

Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2025 Sep; Vol. 69 (9), pp. 822-839. Date of Electronic Publication: 2025 Sep 02.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.

Authors: Hipp JF Bacino CA Bird LM et al.

Corporate Authors: Hipp JF Bacino CA Bird LM et al.

Source: Nature medicine [Nat Med] 2025 Sep; Vol. 31 (9), pp. 2936-2945. Date of Electronic Publication: 2025 Jul 11.

Publication Type: Journal Article; Clinical Trial, Phase I; Multicenter Study

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Gastrointestinal manifestations in Angelman syndrome with accompanying epilepsy: a pediatric case report.

Authors: Sobieszek, Kamil Aleksander Idzik, Patrycja

Source: Egyptian Pediatric Association Gazette. 10/29/2025, Vol. 73 Issue 1, p1-8. 8p.

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.

Authors: Sanders, Victoria R. Edmondson, Andrew C. Yan, Albert C. et al.

Source: BMC Medical Genomics. 10/21/2025, Vol. 18 Issue 1, p1-8. 8p.

Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study.

Authors: Miller JL Gevers E Bridges N et al.

Corporate Authors: Miller JL Gevers E Bridges N et al.

Source: Obesity (Silver Spring, Md.) [Obesity (Silver Spring)] 2024 Feb; Vol. 32 (2), pp. 252-261. Date of Electronic Publication: 2023 Nov 02.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101264860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1930-739X (Electronic) Linking ISSN: 19307381 NLM ISO Abbreviation: Obesity (Silver Spring) Subsets: MEDLINE

Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome.

Authors: Carson, Robert P. Riordan, Heather Short, Brittany et al.

Source: Movement Disorders Clinical Practice. Sep2025, Vol. 12 Issue 9, p1313-1325. 13p.

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital.

Authors: Andrews, Laura K. Chamberlain, Reid C. Silva, Susan et al.

Source: AANA Journal. Aug2025, Vol. 93 Issue 4, p273-282. 10p.

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.

Authors: Tuncer Can, Sevim Golbasi, Hakan Bayraktar, Burak et al.

Source: Fetal & Pediatric Pathology. Jul/Aug2025, Vol. 44 Issue 4, p357-371. 15p.

Disrupted development of sensory systems and the cerebellum in a zebrafish ebf3a mutant.

Authors: Dang, Nghi D P Barcus, Alexia K Conklin, Claire L et al.

Source: G3: Genes | Genomes | Genetics. Jul2025, Vol. 15 Issue 7, p1-12. 12p.

Cannabidiol corrects sleep deficits and reduces spontaneous seizures in Angelman syndrome model mice.

Authors: Shannon T Najeeb M Yi YJ et al.

Source: Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology [Neuropsychopharmacology] 2026 Jun 09. Date of Electronic Publication: 2026 Jun 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8904907 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1740-634X (Electronic) Linking ISSN: 0893133X NLM ISO Abbreviation: Neuropsychopharmacology Subsets: MEDLINE

Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.

Authors: Domaradzki J Walkowiak D

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2026 Apr 14; Vol. 18 (1). Date of Electronic Publication: 2026 Apr 14.

Publication Type: Journal Article

Journal Info: 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; In Process

Exaggerated T‐wave alternans in children with Angelman syndrome.

Authors: Tamilia, Eleonora Makaram, Navaneethakrishna Ntolkeras, Georgios et al.

Source: Annals of the Child Neurology Society. Dec2024, Vol. 2 Issue 4, p308-314. 7p.