Search Results - "Neuser S"

Fatigue Response of Solvent-Based Self-Healing Smart Materials.

Authors: Neuser, S. Michaud, V.

Source: Experimental Mechanics; Feb2014, Vol. 54 Issue 2, p293-304, 12p

Improving solvent-based self-healing materials through shape memory alloys

Authors: Neuser, S. Michaud, V. White, S.R.

Source: Polymer. Jan2012, Vol. 53 Issue 2, p370-378. 9p.

Subjects: Self-healing materials, Shape memory alloys, Epoxy resins, Phenylacetates, Heating, Thickness measurement, Diffusion, Glass transition temperature

Characterization of solvent-filled polyurethane/urea–formaldehyde core–shell composites.

Authors: Neuser, S. Manfredi, E. Michaud, V.

Source: Materials Chemistry & Physics. Feb2014, Vol. 143 Issue 3, p1018-1025. 8p.

Subjects: Polyurethanes, Formaldehyde, Composite materials, Solvents, Microencapsulation, Self-healing materials

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Authors: Boone PM Erdin S Mohamed A et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jul 10. Date of Electronic Publication: 2026 Jul 10.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.

Authors: Kulosik L Schanze I Zacher P et al.

Source: Pediatric neurology [Pediatr Neurol] 2026 Jun; Vol. 179, pp. 37-44. Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article; Multicenter Study

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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Authors: Boone PM Erdin S Mohamed A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Authors: Müller F Neuser S Shrestha G et al.

Source: Biochemistry and biophysics reports [Biochem Biophys Rep] 2025 Nov 28; Vol. 45, pp. 102375. Date of Electronic Publication: 2025 Nov 28 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101660999 Publication Model: eCollection Cited Medium: Internet ISSN: 2405-5808 (Electronic) Linking ISSN: 24055808 NLM ISO Abbreviation: Biochem Biophys Rep Subsets: PubMed not MEDLINE

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Authors: Willim J Woike D Greene D et al.

Corporate Authors: Willim J Woike D Greene D et al.

Source: Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7909. Date of Electronic Publication: 2024 Sep 10.

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

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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Authors: Nava C Cogne B Santini A et al.

Source: Nature genetics [Nat Genet] 2025 Jun; Vol. 57 (6), pp. 1374-1388. Date of Electronic Publication: 2025 May 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Authors: Rossi A Blok LS Neuser S et al.

Source: Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 186-197. Date of Electronic Publication: 2023 May 10.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Authors: Saffari A Kellner M Jordan C et al.

Source: Brain : a journal of neurology [Brain] 2023 May 02; Vol. 146 (5), pp. 2003-2015.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.

Authors: Ebrahimi-Fakhari D Alecu JE Brechmann B et al.

Source: Brain communications [Brain Commun] 2021 Sep 25; Vol. 3 (4), pp. fcab221. Date of Electronic Publication: 2021 Sep 25 (Print Publication: 2021).

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

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Authors: Neuser S Brechmann B Heimer G et al.

Source: Human mutation [Hum Mutat] 2021 Jun; Vol. 42 (6), pp. 762-776. Date of Electronic Publication: 2021 May 11.

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

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

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Authors: Gokce-Samar Z Vetro A De Bellescize J et al.

Source: Neurology [Neurology] 2024 Jan 23; Vol. 102 (2), pp. e207945. Date of Electronic Publication: 2023 Dec 22.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

Authors: Ahmad N Fazeli W Schließke S et al.

Source: Pediatric neurology [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 164-171. Date of Electronic Publication: 2023 Aug 24.

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

Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.

Authors: Urban N Neuser S Hentschel A et al.

Source: British journal of pharmacology [Br J Pharmacol] 2017 Nov; Vol. 174 (22), pp. 4099-4122. Date of Electronic Publication: 2017 Oct 15.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 7502536 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5381 (Electronic) Linking ISSN: 00071188 NLM ISO Abbreviation: Br J Pharmacol Subsets: MEDLINE

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Authors: Cousin MA Veale EL Dsouza NR et al.

Source: Genome medicine [Genome Med] 2022 Jun 13; Vol. 14 (1), pp. 62. Date of Electronic Publication: 2022 Jun 13.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Authors: Schröter J Popp B Brennenstuhl H et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Mar; Vol. 30 (3), pp. 298-306. Date of Electronic Publication: 2022 Jan 11.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Authors: Neuser S Krey I Schwan A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 101-110. Date of Electronic Publication: 2021 Oct 25.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.

Authors: Le Duc D Hentschel J Neuser S et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 489-494. Date of Electronic Publication: 2020 Dec 15.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE