Search Results - "Swanson LC"

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Authors: Küry S Stanton JE van Woerden GM et al.

Source: Nature communications [Nat Commun] 2025 Nov 26; Vol. 16 (1), pp. 10545. Date of Electronic Publication: 2025 Nov 26.

Publication Type: Journal Article

Journal Info: 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

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

Authors: Haviland I Hector RD Swanson LC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63843. Date of Electronic Publication: 2024 Aug 28.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

Authors: Keehan L Haviland I Gofin Y et al.

Corporate Authors: Keehan L Haviland I Gofin Y et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3516-3524. Date of Electronic Publication: 2022 Aug 07.

Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Authors: Borroto MC Patel H Srivastava S et al.

Corporate Authors: Borroto MC Patel H Srivastava S et al.

Source: Pediatric neurology [Pediatr Neurol] 2024 Nov; Vol. 160, pp. 45-53. Date of Electronic Publication: 2024 Jul 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Outcomes Following Neonatal Cardiac Surgery in Cape Town, South Africa.

Authors: du Toit D Swanson LC Salie S et al.

Source: World journal for pediatric & congenital heart surgery [World J Pediatr Congenit Heart Surg] 2024 Nov; Vol. 15 (6), pp. 774-782. Date of Electronic Publication: 2024 Aug 28.

Publication Type: Journal Article

Journal Info: Publisher: Sage Publications Country of Publication: United States NLM ID: 101518415 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2150-136X (Electronic) Linking ISSN: 21501351 NLM ISO Abbreviation: World J Pediatr Congenit Heart Surg Subsets: MEDLINE

Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.

Authors: Saby JN Mulcahey PJ Zavez AE et al.

Source: Brain communications [Brain Commun] 2022 Aug 04; Vol. 4 (4), pp. fcac197. Date of Electronic Publication: 2022 Aug 04 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Severe speech impairment is a distinguishing feature of FOXP1-related disorder.

Authors: Braden RO Amor DJ Fisher SE et al.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2021 Dec; Vol. 63 (12), pp. 1417-1426. Date of Electronic Publication: 2021 Jun 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: 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

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Authors: Olson HE Costantini JG Swanson LC et al.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2021 Nov; Vol. 63 (11), pp. 1308-1315. Date of Electronic Publication: 2021 May 24.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: 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

Multisite Study of Evoked Potentials in Rett Syndrome.

Authors: Saby JN Benke TA Peters SU et al.

Source: Annals of neurology [Ann Neurol] 2021 Apr; Vol. 89 (4), pp. 790-802. Date of Electronic Publication: 2021 Feb 04.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Survival Following Traumatic Brain Injury in Drosophila Is Increased by Heterozygosity for a Mutation of the NF-κB Innate Immune Response Transcription Factor Relish.

Authors: Swanson LC Trujillo EA Thiede GH et al.

Source: Genetics [Genetics] 2020 Dec; Vol. 216 (4), pp. 1117-1136. Date of Electronic Publication: 2020 Oct 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

Authors: Ballout RA Dickerson C Wick MJ et al.

Source: Human mutation [Hum Mutat] 2020 Jul; Vol. 41 (7), pp. 1238-1249. Date of Electronic Publication: 2020 Mar 12.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Authors: Demarest ST Olson HE Moss A et al.

Source: Epilepsia [Epilepsia] 2019 Aug; Vol. 60 (8), pp. 1733-1742. Date of Electronic Publication: 2019 Jul 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Comparison of evoked potentials across four related developmental encephalopathies.

Authors: Saby JN Peters SU Benke TA et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2023 Mar 04; Vol. 15 (1), pp. 10. Date of Electronic Publication: 2023 Mar 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

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

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.

Authors: Haviland I Daniels CI Greene CA et al.

Source: Pediatric neurology [Pediatr Neurol] 2023 Jan; Vol. 138, pp. 71-80. Date of Electronic Publication: 2022 Oct 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.

Authors: Zlatic SA Duong D Gadalla KKE et al.

Source: IScience [iScience] 2022 Aug 17; Vol. 25 (9), pp. 104966. Date of Electronic Publication: 2022 Aug 17 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Authors: Oates EC Jones KJ Donkervoort S et al.

Source: Annals of neurology [Ann Neurol] 2018 Jun; Vol. 83 (6), pp. 1105-1124.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Authors: Beggs AH Byrne BJ De Chastonay S et al.

Source: Muscle & nerve [Muscle Nerve] 2018 Apr; Vol. 57 (4), pp. 550-560. Date of Electronic Publication: 2017 Dec 22.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Epilepsy Syndromes: Current Classifications and Future Directions.

Authors: Swanson LC Ahmed R

Source: Neurosurgery clinics of North America [Neurosurg Clin N Am] 2022 Jan; Vol. 33 (1), pp. 113-134. Date of Electronic Publication: 2021 Oct 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 9008004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1349 (Electronic) Linking ISSN: 10423680 NLM ISO Abbreviation: Neurosurg Clin N Am Subsets: MEDLINE

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

Authors: Olson HE Daniels CI Haviland I et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2021 Sep 16; Vol. 13 (1), pp. 40. Date of Electronic Publication: 2021 Sep 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

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

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Authors: Srivastava S Macke EL Swanson LC et al.

Source: Brain sciences [Brain Sci] 2021 Jul 14; Vol. 11 (7). Date of Electronic Publication: 2021 Jul 14.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101598646 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3425 (Print) Linking ISSN: 20763425 NLM ISO Abbreviation: Brain Sci Subsets: PubMed not MEDLINE