Search Results - "Steigerwald C"

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.

Authors: Li BY Greenberg JH Steigerwald C et al.

Source: Neurology [Neurology] 2025 Nov 11; Vol. 105 (9), pp. e214313. Date of Electronic Publication: 2025 Oct 17.

Publication Type: Journal Article; Case Reports

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

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

Authors: Garber A Weingarten LS Abreu NJ et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63578. Date of Electronic Publication: 2024 Feb 29.

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

Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.

Authors: Wilkins SR Yu AW Steigerwald C et al.

Source: Multiple sclerosis (Houndmills, Basingstoke, England) [Mult Scler] 2023 Jun; Vol. 29 (7), pp. 892-897. Date of Electronic Publication: 2023 May 25.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: England NLM ID: 9509185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-0970 (Electronic) Linking ISSN: 13524585 NLM ISO Abbreviation: Mult Scler Subsets: MEDLINE

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Authors: Stoupa A Franca MM Abdulhadi-Atwan M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec; Vol. 26 (12), pp. 101280. Date of Electronic Publication: 2024 Sep 21.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings

Authors: O'Neill KA Dugue A Abreu NJ et al.

Source: Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2024 Mar; Vol. 11 (2), pp. e200194. Date of Electronic Publication: 2024 Jan 05.

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Health/Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101636388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2332-7812 (Electronic) Linking ISSN: 23327812 NLM ISO Abbreviation: Neurol Neuroimmunol Neuroinflamm Subsets: MEDLINE

CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.

Authors: Steigerwald C Borsuk J Pappas J et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Dec; Vol. 140 (4), pp. 107713. Date of Electronic Publication: 2023 Oct 30.

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

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

Pearls & Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis.

Authors: Jain A Arena VP Steigerwald C et al.

Source: Neurology [Neurology] 2023 Sep 12; Vol. 101 (11), pp. e1178-e1181. Date of Electronic Publication: 2023 Jul 05.

Publication Type: Case Reports; Journal Article

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

Functional mismatch repair and inactive p53 drive sensitization of colorectal cancer cells to irinotecan via the IAP antagonist BV6.

Authors: Tomicic MT Steigerwald C Rasenberger B et al.

Source: Archives of toxicology [Arch Toxicol] 2019 Aug; Vol. 93 (8), pp. 2265-2277. Date of Electronic Publication: 2019 Jul 09.

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

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417615 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0738 (Electronic) Linking ISSN: 03405761 NLM ISO Abbreviation: Arch Toxicol Subsets: MEDLINE

Sensitization of colorectal cancer cells to irinotecan by the Survivin inhibitor LLP3 depends on XAF1 proficiency in the context of mutated p53.

Authors: Steigerwald C Rasenberger B Christmann M et al.

Source: Archives of toxicology [Arch Toxicol] 2018 Aug; Vol. 92 (8), pp. 2645-2648. Date of Electronic Publication: 2018 Jun 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417615 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0738 (Electronic) Linking ISSN: 03405761 NLM ISO Abbreviation: Arch Toxicol Subsets: MEDLINE

[Carcinoid of the middle ear. A case report].

Transliterated Title: Das Karzinoid des Mittelohrs. Ein Fallbericht.

Authors: Rieh E Steigerwald C Göbel H et al.

Source: HNO [HNO] 2009 Aug; Vol. 57 (8), pp. 835-8.

Publication Type: Case Reports; English Abstract; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 2985099R Publication Model: Print Cited Medium: Internet ISSN: 1433-0458 (Electronic) Linking ISSN: 00176192 NLM ISO Abbreviation: HNO Subsets: MEDLINE

Two occult skull base malformations causing recurrent meningitis in a child: a case report.

Authors: Schick B Prescher A Hofmann E et al.

Source: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2003 Oct; Vol. 260 (9), pp. 518-21. Date of Electronic Publication: 2003 May 08.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9002937 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0937-4477 (Print) Linking ISSN: 09374477 NLM ISO Abbreviation: Eur Arch Otorhinolaryngol Subsets: MEDLINE

Integrin αVβ3 silencing sensitizes malignant glioma cells to temozolomide by suppression of homologous recombination repair.

Authors: Christmann M Diesler K Majhen D et al.

Source: Oncotarget [Oncotarget] 2017 Apr 25; Vol. 8 (17), pp. 27754-27771.

Publication Type: Journal Article

Journal Info: Publisher: Impact Journals Country of Publication: United States NLM ID: 101532965 Publication Model: Print Cited Medium: Internet ISSN: 1949-2553 (Electronic) Linking ISSN: 19492553 NLM ISO Abbreviation: Oncotarget Subsets: MEDLINE

Making health information exchange work.

Authors: Callan K Fuller J Galterio L et al.

Source: Journal of AHIMA [J AHIMA] 2014 Nov-Dec; Vol. 85 (11), pp. 32-6.

Publication Type: Journal Article

Journal Info: Publisher: American Health Information Management Association Country of Publication: United States NLM ID: 9202024 Publication Model: Print Cited Medium: Print ISSN: 1060-5487 (Print) Linking ISSN: 10605487 NLM ISO Abbreviation: J AHIMA

Tracking HIE's ever evolving operational models.

Authors: Callan K Fuller J Galterio L et al.

Source: Journal of AHIMA [J AHIMA] 2014 Oct; Vol. 85 (10), pp. 36-40; quiz 42.

Publication Type: Journal Article

Journal Info: Publisher: American Health Information Management Association Country of Publication: United States NLM ID: 9202024 Publication Model: Print Cited Medium: Print ISSN: 1060-5487 (Print) Linking ISSN: 10605487 NLM ISO Abbreviation: J AHIMA

[Diagnostic value of color-coded Doppler sonography in neuro-otologic disorders].

Transliterated Title: Wertigkeit der farbkodierten Duplexsonografie bei neuro-otologischen Krankheitsbildern.

Authors: Offergeld C Schellong S Schmidt A et al.

Source: Ultraschall in der Medizin (Stuttgart, Germany : 1980) [Ultraschall Med] 2008 Dec; Vol. 29 (6), pp. 627-32. Date of Electronic Publication: 2008 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: G. Thieme Verlag Country of Publication: Germany NLM ID: 8303585 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-8782 (Electronic) Linking ISSN: 01724614 NLM ISO Abbreviation: Ultraschall Med Subsets: MEDLINE

[Angiography of the carotid artery in centro-lateral skull base fractures?].

Transliterated Title: Karotisangiographie bei zentro-lateralen Schädelbasisfrakturen?

Authors: Steigerwald C Draf W Hofmann E et al.

Source: Laryngo- rhino- otologie [Laryngorhinootologie] 2005 Dec; Vol. 84 (12), pp. 910-4.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Thieme Country of Publication: Germany NLM ID: 8912371 Publication Model: Print Cited Medium: Print ISSN: 0935-8943 (Print) Linking ISSN: 09358943 NLM ISO Abbreviation: Laryngorhinootologie Subsets: MEDLINE

The role of endonasal surgery in the management of frontoethmoidal osteomas.

Authors: Schick B Steigerwald C el Rahman el Tahan A et al.

Source: Rhinology [Rhinology] 2001 Jun; Vol. 39 (2), pp. 66-70.

Publication Type: Evaluation Study; Journal Article

Journal Info: Publisher: International Rhinologic Society Country of Publication: Netherlands NLM ID: 0347242 Publication Model: Print Cited Medium: Print ISSN: 0300-0729 (Print) Linking ISSN: 03000729 NLM ISO Abbreviation: Rhinology Subsets: MEDLINE