Search Results - "Schaefer AM"

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

Authors: Whittaker RG Schaefer AM McFarland R et al.

Source: Diabetes Care. Sep2007, Vol. 30 Issue 9, p2238-2239. 2p.

URL: 26644203

Evaluating Bias in Self-Reported Symptoms During a Cyanobacterial Algal Bloom.

Authors: Reif JS Koszalinski R McFarland MM et al.

Source: Toxins [Toxins (Basel)] 2025 Jun 06; Vol. 17 (6). Date of Electronic Publication: 2025 Jun 06.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101530765 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6651 (Electronic) Linking ISSN: 20726651 NLM ISO Abbreviation: Toxins (Basel) Subsets: MEDLINE

Adjunctive transcranial DC stimulation in the management of refractory drug-resistant focal epilepsy in POLG mitochondrial disease: A case series.

Authors: Bangel KA Ng Y Lim A et al.

Source: Seizure [Seizure] 2026 May 09. Date of Electronic Publication: 2026 May 09.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Underpinning Human Health Outcomes of Harmful Algal Bloom Exposure Research: An Analysis of the Relationship and Applicability of the Bureaucratic Caring Theory.

Authors: Koszalinski R Wilson C Schaefer AM

Source: Scandinavian journal of caring sciences [Scand J Caring Sci] 2026 Mar; Vol. 40 (1), pp. e70199.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: Sweden NLM ID: 8804206 Publication Model: Print Cited Medium: Internet ISSN: 1471-6712 (Electronic) Linking ISSN: 02839318 NLM ISO Abbreviation: Scand J Caring Sci Subsets: MEDLINE

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.

Authors: Bhattacharjee S Lenassi E Taylor RW et al.

Source: Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 17. Date of Electronic Publication: 2024 Dec 12.

Publication Type: Letter

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE; In Process

Somatosensory and motor cortical evoked potentials in the diagnosis and management of scan-negative myelopathy.

Authors: Madureira BIE Da Silva AB Elameer M et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2026 Feb 14; Vol. 47 (3), pp. 260. Date of Electronic Publication: 2026 Feb 14.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Multi-site study of communities with PFAS-contaminated drinking water: Methods, demographics, and PFAS serum concentrations.

Authors: Pavuk M Adgate JL Bartell SM et al.

Source: Environment international [Environ Int] 2025 Aug; Vol. 202, pp. 109589. Date of Electronic Publication: 2025 Jun 12.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 7807270 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-6750 (Electronic) Linking ISSN: 01604120 NLM ISO Abbreviation: Environ Int Subsets: MEDLINE

Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or Single-Sided Deafness?

Authors: Kocharyan A Schaefer AM Smith RJH et al.

Source: The Laryngoscope [Laryngoscope] 2023 Sep; Vol. 133 (9), pp. 2042-2043. Date of Electronic Publication: 2023 Apr 25.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Authors: Tollefson MR Gogal RA Weaver AM et al.

Source: Human genetics [Hum Genet] 2023 Jun; Vol. 142 (6), pp. 819-834. Date of Electronic Publication: 2023 Apr 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049].

Authors: Belle K Kreymerman A Young JL et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 May; Vol. 145 (1), pp. 109100. Date of Electronic Publication: 2025 Apr 10.

Publication Type: Published Erratum

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE; PubMed not MEDLINE

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.

Authors: Belle K Kreymerman A Young JL et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Mar; Vol. 144 (3), pp. 109049. Date of Electronic Publication: 2025 Feb 07.

Publication Type: Letter

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE; In Process

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Authors: Erdinc D Rodríguez-Luis A Fassad MR et al.

Corporate Authors: Erdinc D Rodríguez-Luis A Fassad MR et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2023 May 08; Vol. 15 (5), pp. e16775. Date of Electronic Publication: 2023 Apr 04.

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

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.

Authors: Folland C Johnsen R Botero Gomez A et al.

Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Dec; Vol. 48 (7), pp. e12846. Date of Electronic Publication: 2022 Aug 20.

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

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE

Forecasting stroke-like episodes and outcomes in mitochondrial disease.

Authors: Ng YS Lax NZ Blain AP et al.

Source: Brain : a journal of neurology [Brain] 2022 Apr 18; Vol. 145 (2), pp. 542-554.

Publication Type: Journal Article; Multicenter Study; Observational Study; 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

Detection of Brevetoxin in Human Plasma by ELISA.

Authors: Cunningham BR Coleman RM Schaefer AM et al.

Source: Journal of analytical toxicology [J Anal Toxicol] 2022 Mar 21; Vol. 46 (3), pp. 322-327.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 7705085 Publication Model: Print Cited Medium: Internet ISSN: 1945-2403 (Electronic) Linking ISSN: 01464760 NLM ISO Abbreviation: J Anal Toxicol Subsets: MEDLINE

Siglec15/TGF-β bispecific antibody mediates synergistic anti-tumor response against 4T1 triple negative breast cancer in mice.

Authors: Shen L Schaefer AM Tiruthani K et al.

Source: Bioengineering & translational medicine [Bioeng Transl Med] 2024 Mar 11; Vol. 9 (5), pp. e10651. Date of Electronic Publication: 2024 Mar 11 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Inc Country of Publication: United States NLM ID: 101689146 Publication Model: eCollection Cited Medium: Print ISSN: 2380-6761 (Print) Linking ISSN: 23806761 NLM ISO Abbreviation: Bioeng Transl Med Subsets: PubMed not MEDLINE

Inhaled "Muco-Trapping" Monoclonal Antibody Effectively Treats Established Respiratory Syncytial Virus (RSV) Infections.

Authors: McSweeney MD Alnajjar S Schaefer AM et al.

Source: Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2024 Mar; Vol. 11 (12), pp. e2306729. Date of Electronic Publication: 2024 Jan 15.

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

Journal Info: Publisher: WILEY-VCH Country of Publication: Germany NLM ID: 101664569 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2198-3844 (Electronic) Linking ISSN: 21983844 NLM ISO Abbreviation: Adv Sci (Weinh) Subsets: MEDLINE

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

Authors: Walls WD Moteki H Thomas TR et al.

Source: Human genetics [Hum Genet] 2020 Oct; Vol. 139 (10), pp. 1315-1323. Date of Electronic Publication: 2020 May 07.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Symptom frequency and exposure to a cyanobacteria bloom in Florida.

Authors: Reif JS Stockley N Harvey K et al.

Source: Harmful algae [Harmful Algae] 2023 Nov; Vol. 129, pp. 102526. Date of Electronic Publication: 2023 Oct 17.

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

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1470 (Electronic) Linking ISSN: 15689883 NLM ISO Abbreviation: Harmful Algae Subsets: MEDLINE

Determinants of external and blood parasite load in African penguins (Spheniscus demersus) admitted for rehabilitation.

Authors: Snyman A Vanstreels RET Nell C et al.

Source: Parasitology [Parasitology] 2020 Apr; Vol. 147 (5), pp. 577-583. Date of Electronic Publication: 2020 Jan 29.

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

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 0401121 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8161 (Electronic) Linking ISSN: 00311820 NLM ISO Abbreviation: Parasitology Subsets: MEDLINE