Search Results - "Reuner U"

G.P.190: Multiple deletions in mitochondrial DNA in myofibrillar myopathy and centronuclear myopathy.

Authors: Schaefer, J. Reuner, U. Reichmann, H. et al.

Source: Neuromuscular Disorders. Oct2014, Vol. 24 Issue 9/10, p867-867. 1p.

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

Authors: Niemann, S. Joos, H. Meyer, T. et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Aug2004, Vol. 75 Issue 8, p1186-1188. 3p.

1 EFFICACY AND SAFETY OF D-PENICILLAMINE AND TRIENTINE FOR THE TREATMENT OF WILSON DISEASE

Authors: Weiss, K.H. Schots, M. Gotthardt, D.N. et al.

Source: Journal of Hepatology. Mar2011 Supplement 1, Vol. 54, pS1-S1. 1p.

Efficacy and safety of maintenance intravenous immunoglobulin in generalized myasthenia gravis patients with acetylcholine receptor antibodies: A multicenter, double-blind, placebo-controlled trial.

Authors: Bril V Berkowicz T Szczudlik A et al.

Source: Muscle & nerve [Muscle Nerve] 2025 Jan; Vol. 71 (1), pp. 43-54. Date of Electronic Publication: 2024 Nov 07.

Publication Type: Journal Article; Multicenter Study; Randomized Controlled Trial; Clinical Trial, Phase II

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

[Correction: Wilson's disease - interdisciplinary networking, better treatment].

Transliterated Title: Erratum: Morbus Wilson vernetzt – interdisziplinär denken, besser behandeln.

Authors: Reuner U Dinger J

Source: Fortschritte der Neurologie-Psychiatrie [Fortschr Neurol Psychiatr] 2025 Nov; Vol. 93 (11), pp. e3. Date of Electronic Publication: 2025 Dec 08.

Publication Type: Published Erratum

Journal Info: Publisher: Thieme Country of Publication: Germany NLM ID: 8103137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3522 (Electronic) Linking ISSN: 07204299 NLM ISO Abbreviation: Fortschr Neurol Psychiatr Subsets: MEDLINE; In Process

[Wilson's disease - interdisciplinary networking, better treatment].

Transliterated Title: Morbus Wilson vernetzt – interdisziplinär denken, besser behandeln.

Authors: Reuner U Dinger J

Source: Fortschritte der Neurologie-Psychiatrie [Fortschr Neurol Psychiatr] 2025 Nov; Vol. 93 (11), pp. 474-494. Date of Electronic Publication: 2025 Nov 06.

Publication Type: Journal Article; Review; English Abstract

Journal Info: Publisher: Thieme Country of Publication: Germany NLM ID: 8103137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3522 (Electronic) Linking ISSN: 07204299 NLM ISO Abbreviation: Fortschr Neurol Psychiatr Subsets: MEDLINE

Successful treatment of scleromyxoedema with daratumumab.

Authors: Epp K Teipel R Reuner U et al.

Source: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 9-10. Date of Electronic Publication: 2024 Mar 12.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Authors: Schmidt A Danyel M Grundmann K et al.

Source: Nature genetics [Nat Genet] 2025 Jul; Vol. 57 (7), pp. 1790-1791.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release.

Authors: Rösing S Ullrich F Meisterfeld S et al.

Source: Nature communications [Nat Commun] 2024 Feb 20; Vol. 15 (1), pp. 1534. Date of Electronic Publication: 2024 Feb 20.

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

Patients with Wilson's Disease Are Insensitive to Sulfur Odors.

Authors: Haehner A Reuner U Nagai MH et al.

Source: Movement disorders clinical practice [Mov Disord Clin Pract] 2025 Jan; Vol. 12 (1), pp. 118-119. Date of Electronic Publication: 2024 Oct 17.

Publication Type: Letter

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE; In Process

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Authors: Schmidt A Danyel M Grundmann K et al.

Source: Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1644-1653. Date of Electronic Publication: 2024 Jul 22.

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

Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease?

Authors: Zhang K Reuner U Weidauer M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Nov 07; Vol. 14 (1), pp. 244. Date of Electronic Publication: 2019 Nov 07.

Publication Type: Controlled Clinical Trial; Letter

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

526 Cardiac involvement of Wilsons disease. A myocardial strain and imaging study.

Authors: Quick, S Q Reuner, U Hempe, C H et al.

Source: European heart journal. Cardiovascular Imaging 2019 Supplement; Vol. 20.

Journal Info: Publisher: Oxford University Press / USA ISSN: 2047-2404

Cardiac and autonomic function in patients with Wilson's disease.

Authors: Quick S Reuner U Weidauer M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jan 28; Vol. 14 (1), pp. 22. Date of Electronic Publication: 2019 Jan 28.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up.

Authors: Li K Lindauer C Haase R et al.

Source: Frontiers in physiology [Front Physiol] 2017 Oct 10; Vol. 8, pp. 778. Date of Electronic Publication: 2017 Oct 10 (Print Publication: 2017).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE

Effects of copper toxicity on response inhibition processes: a study in Wilson's disease.

Authors: Stock AK Reuner U Gohil K et al.

Source: Archives of toxicology [Arch Toxicol] 2016 Jul; Vol. 90 (7), pp. 1623-30. Date of Electronic Publication: 2015 Oct 05.

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

Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance.

Authors: Quick S Schaefer J Waessnig N et al.

Source: Muscle & nerve [Muscle Nerve] 2015 Oct; Vol. 52 (4), pp. 661-3. Date of Electronic Publication: 2015 Aug 08.

Publication Type: Journal Article

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

Evaluation of Myocardial Strain Using Cardiac Magnetic Resonance in Patients with Wilson's Disease.

Authors: Zhang K Reuner U Hempel C et al.

Source: Journal of clinical medicine [J Clin Med] 2021 Jan 18; Vol. 10 (2). Date of Electronic Publication: 2021 Jan 18.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).

Authors: Petters J Völkner C Krohn S et al.

Source: Stem cell research [Stem Cell Res] 2020 Dec; Vol. 49, pp. 102079. Date of Electronic Publication: 2020 Nov 05.

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

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Authors: Villar-Quiles RN von der Hagen M Métay C et al.

Source: Neurology [Neurology] 2020 Sep 15; Vol. 95 (11), pp. e1512-e1527. Date of Electronic Publication: 2020 Aug 13.

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