Zechel, Sabrina

[["dc.bibliographiccitation.firstpage","1"],["dc.bibliographiccitation.journal","International Journal of Neuroscience"],["dc.bibliographiccitation.lastpage","6"],["dc.contributor.author","Komboz, Fares"],["dc.contributor.author","Zechel, Sabrina"],["dc.contributor.author","Malinova, Vesna"],["dc.contributor.author","Mielke, Dorothee"],["dc.contributor.author","Rohde, Veit"],["dc.contributor.author","Abboud, Tammam"],["dc.date.accessioned","2022-06-01T09:39:17Z"],["dc.date.available","2022-06-01T09:39:17Z"],["dc.date.issued","2022"],["dc.identifier.doi","10.1080/00207454.2022.2082965"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/108430"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-572"],["dc.relation.eissn","1543-5245"],["dc.relation.issn","0020-7454"],["dc.title","Infratentorial Ganglioglioma Mimicking a Cerebellar Metastasis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e327"],["dc.bibliographiccitation.firstpage","e327"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Neurology Genetics"],["dc.bibliographiccitation.volume","5"],["dc.contributor.author","Carstens, Per-Ole"],["dc.contributor.author","Schwaibold, Eva Maria Christina"],["dc.contributor.author","Schregel, Katharina"],["dc.contributor.author","Obermaier, Carolin D."],["dc.contributor.author","Wrede, Arne"],["dc.contributor.author","Zechel, Sabrina"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schmidt, Jens"],["dc.date.accessioned","2020-12-10T18:41:40Z"],["dc.date.available","2020-12-10T18:41:40Z"],["dc.date.issued","2019"],["dc.description.abstract","X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle. Symptoms include impaired respiration and muscular hypotonia, usually present at birth and leading to death during infancy or early childhood.1 Pneumothorax, defined as trapping of air in the pleural cavity, can be caused by surgery or can occur spontaneously.2 Pneumothorax has been reported only in a small number of cases with hereditary myopathies, but usually not spontaneously and never in XLMTM."],["dc.identifier.doi","10.1212/NXG.0000000000000327"],["dc.identifier.eissn","2376-7839"],["dc.identifier.pmid","31192301"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16079"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77643"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","2376-7839"],["dc.rights","CC BY-NC-ND 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc-nd/4.0"],["dc.title","X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","210"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Clinical and Experimental Rheumatology"],["dc.bibliographiccitation.lastpage","213"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Schmidt, Jens M."],["dc.contributor.author","Korsten, Peter"],["dc.contributor.author","Zechel, Sabrina"],["dc.contributor.author","Schlüter, Silke"],["dc.date.accessioned","2022-04-01T06:33:17Z"],["dc.date.available","2022-04-01T06:33:17Z"],["dc.date.issued","2022-02"],["dc.identifier.pmid","35225223"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/105365"],["dc.language.iso","en"],["dc.relation.issn","0392-856X"],["dc.title","Introducing the international Myositis Society (iMyoS): a novel multiprofessional society to foster the care, education, and research on myositis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","editorial_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Frontiers in Neurology"],["dc.bibliographiccitation.volume","13"],["dc.contributor.affiliation","Meyer, Stefanie; 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Kaulfuß, Silke; 2Department of Human Genetics, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Zechel, Sabrina; 3Department of Neuropathology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Kummer, Karsten; 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Seif Amir Hosseini, Ali; 4Department of Diagnostic and Interventional Radiology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Ernst, Marielle Sophie; 5Department of Neuroradiology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Schmidt, Jens; 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Pauli, Silke; 2Department of Human Genetics, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.affiliation","Zschüntzsch, Jana; 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany"],["dc.contributor.author","Meyer, Stefanie"],["dc.contributor.author","Kaulfuß, Silke"],["dc.contributor.author","Zechel, Sabrina"],["dc.contributor.author","Kummer, Karsten"],["dc.contributor.author","Hosseini, Ali Seif Amir"],["dc.contributor.author","Ernst, Marielle Sophie"],["dc.contributor.author","Schmidt, Jens"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Zschüntzsch, Jana"],["dc.date.accessioned","2022-08-04T07:56:56Z"],["dc.date.available","2022-08-04T07:56:56Z"],["dc.date.issued","2022-07-19"],["dc.date.updated","2022-08-02T14:39:17Z"],["dc.description.abstract","Background\r\nBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS). Focusing on an individual VUS-re-classification pipeline, this study offers a diagnostic approach for clinically suspected hereditary muscular dystrophy by combining the expertise of an interdisciplinary team.\r\n\r\n\r\nMethods\r\nIn a multi-step approach, a thorough phenotype assessment including clinical examination, laboratory work, muscle MRI and histopathological evaluation of muscle was performed in combination with advanced Next Generation Sequencing (NGS). Different in-silico tools and prediction programs like Alamut, SIFT, Polyphen, MutationTaster and M-Cap as well as 3D- modeling of protein structure and RNA-sequencing were employed to determine clinical significance of the LAMA2 variants.\r\n\r\n\r\nResults\r\nTwo previously unknown sequence alterations in LAMA2 were detected, a missense variant was classified initially according to ACMG guidelines as a VUS (class 3) whereas a second splice site variant was deemed as likely pathogenic (class 4). Pathogenicity of the splice site variant was confirmed by mRNA sequencing and nonsense mediated decay (NMD) was detected. Combination of the detected variants could be associated to the LGMDR23-phenotype based on the MRI matching and literature research.\r\n\r\n\r\nDiscussion\r\nTwo novel variants in LAMA2 associated with LGMDR23-phenotype are described. This study illustrates challenges of the genetic findings due to their VUS classification and elucidates how individualized diagnostic procedure has contributed to the accurate diagnosis in the spectrum of LGMD."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2022"],["dc.identifier.doi","10.3389/fneur.2022.893605"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/112616"],["dc.language.iso","en"],["dc.relation.eissn","1664-2295"],["dc.rights","CC BY 4.0"],["dc.rights.uri","http://creativecommons.org/licenses/by/4.0/"],["dc.title","Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]