Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Carolin D. Obermaier"'
Autor:
Maike F. Dohrn, Corina Heller, Diana Zengeler, Carolin D. Obermaier, Saskia Biskup, Joachim Weis, Stefan Nikolin, Kristl G. Claeys, Ulrike Schöne, Danique Beijer, Natalie Winter, Pascal Achenbach, Burkhard Gess, Jörg B. Schulz, Lejla Mulahasanovic
Publikováno v:
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022)
Abstract By whole-exome sequencing, we found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a mixed neuro-myopathic phenotype. The variant is located within the active site of polymeras
Externí odkaz:
https://doaj.org/article/4bd218aa46e54d17948277f13d2b6aa9
Autor:
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6410 (2021)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In th
Externí odkaz:
https://doaj.org/article/496eccf7a4964da38f5a8e4346404eef
Autor:
Laura Kuehlewein, Fadi Nasser, Eberhart Zrenner, Bernd Wissinger, Anne Kurtenbach, Susanne Kohl, Carolin D Obermaier
Publikováno v:
Documenta Ophthalmologica. 139:75-81
Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. This report is an observation
Autor:
Laura Kuehlewein, Antje Bernd, Susanne Kohl, Ditta Zobor, Fadi Nasser, Nicole Weisschuh, Saskia Biskup, Bernd Wissinger, Eberhart Zrenner, Florian Battke, Katarina Stingl, Eva Weber, Carolin D Obermaier
Publikováno v:
Human mutationREFERENCES. 41(9)
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A cohort of 2,158 affected patients from 1,785 families diagnosed with I
Autor:
Saskia Biskup, Lejla Mulahasanovic, Bernd A. Neubauer, Georg-Christoph Korenke, Carolin D Obermaier, Konstanze Hörtnagel, Marta Owczarek-Lipska, John Neidhardt
Publikováno v:
Molecular biology reports. 46(4)
Inherited white matter disorders of the central nervous system frequently are degenerative and progressive clinical entities. They are classified into myelin disorders, including hypomyelination, dysmyelination, demyelination, and myelin vacuolizatio
Autor:
E. Zrenner, Susanne Kohl, Fadi Nasser, Krunoslav Stingl, Anne Kurtenbach, Carolin D Obermaier
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 139(1)
The aim of this study was to examine the ophthalmological characteristics and genotypes of patients with congenital retinal pathologies, who display a bull’s-eye maculopathy in the fundus, along with a negative scotopic electroretinogram. We analys