Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Martin Gliem"'
Autor:
Johannes Birtel, Tobias Bauer, Laurenz Pauleikhoff, Theodor Rüber, Martin Gliem, Peter Charbel Issa
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Retinal disease accounts significantly for visual impairment and blindness. An important role in the pathophysiology of retinal disease and aging is attributed to lipofuscin, a complex of fluorescent metabolites. Fundus autofluorescence (AF)
Externí odkaz:
https://doaj.org/article/b20b6a24547c48f0a9b0438d58b2ae01
Autor:
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L Müller, Frank G Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J Bolz, Peter Charbel Issa
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0207958 (2018)
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the
Externí odkaz:
https://doaj.org/article/59d03f6dbc674dc59bc1333e3bf03700
Autor:
Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162337 (2016)
BACKGROUND:Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification
Externí odkaz:
https://doaj.org/article/0173db7923074173999c5239040601ec
Autor:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Autor:
Johannes Birtel, Christina von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S. Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt, Cornelia Kornblum, Peter Charbel Issa
Publikováno v:
Ophthalmology Retina. 6:65-79
To report the retinal phenotype and the associated genetic and systemic findings in patients with mitochondrial disease.Retrospective case series.Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external
Publikováno v:
British Journal of Ophthalmology. 106:1561-1566
Background/aimTo evaluate relationships between subretinal fluid (SRF), macular atrophy (MA) and visual outcomes in ranibizumab-treated neovascular age-related macular degeneration (nAMD).MethodsThis post hoc HARBOR trial (NCT00891735) analysis inclu
Autor:
Robert E MacLaren, Hendrik P. N. Scholl, Philipp Herrmann, Frank G Holz, Johannes Birtel, Christine Neuhaus, Peter Charbel Issa, Martin Gliem
Publikováno v:
British Journal of Ophthalmology. 106:1269-1273
Background/AimTo provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD).MethodsClinical evaluation and retinal imaging in six families.ResultsTwenty-one subjects showed phenotypic
Autor:
Johannes Birtel, Frank G. Holz, Myra McGuinnes, Philipp L. Müller, Martin Gliem, Peter Charbel Issa
Publikováno v:
American Journal of Ophthalmology. 222:340-350
Purpose To investigate lipofuscin-related quantitative autofluorescence measures and their association with demographic characteristics, retinal structure, retinal function and genotype in ABCA4-related retinopathy (Stargardt disease 1). Design Cross
Autor:
Frank G. Holz, Philipp Herrmann, Johannes Birtel, Myra B McGuinness, Martin Gliem, Philipp L. Müller, Peter Charbel Issa
Publikováno v:
Ophthalmology Retina. 4:737-749
Purpose To investigate quantitatively lipofuscin-associated fundus autofluorescence in patients with macular and cone/cone–rod dystrophies (MD/CCRDs). Design Prospective, single-center, case-control study. Participants Two hundred thirty patients w