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Author/Creator Friedburg, Christoph

1. Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Issue 10 (25th July 2019)

Authors:
Preising, Markus N.; Görg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmüller, Janine; Herebian, Diran; Beyer, Mila; Zöllner, Helge J.; Wittsack, Hans-Jörg; Schaper, Jörg; Klee, Dirk; Zechner, Ulrich; Nürnberg,...
Journal:
FASEB journal
Issue:
Volume 33:Issue 10(2019)
Page Start:
11507
Record Type:
Journal Article
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2. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. (10th March 2017)

Authors:
Michalakis, Stylianos; Shaltiel, Lior; Sothilingam, Vithiyanjali; Koch, Susanne; Schludi, Verena; Krause, Stefanie; Zeitz, Christina; Audo, Isabelle; Lancelot, Marie-Elise; Hamel, Christian; Meunier, Isabelle; Preising, Markus N.; Friedburg, Christoph; Lorenz, Birgit; Zabouri, Nawal; Haverkamp, S...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 2(2017:Jan. 15)
Page Start:
466
Record Type:
Journal Article
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3. Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy. Issue 4 (December 2020)

Authors:
Catarino, Claudia B.; von Livonius, Bettina; Priglinger, Claudia; Banik, Rudrani; Matloob, Selma; Tamhankar, Madhura A.; Castillo, Lorena; Friedburg, Christoph; Halfpenny, Christopher A.; Lincoln, John A.; Traber, Ghislaine L.; Acaroglu, Gölge; Black, Graeme C. M.; Doncel, Carlos; Fraser, Clare L...
Other Names:
Moss Heather E. section editor.; Pineles Stacy L. section editor.
Journal:
Journal of neuro-ophthalmology
Issue:
Volume 40:Issue 4(2020:Dec.)
Page Start:
Record Type:
Journal Article
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4. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Issue 4 (22nd March 2017)

Authors:
Logeswaran, Thushiha; Friedburg, Christoph; Hofmann, Karoline; Akintuerk, Hakan; Biskup, Saskia; Graef, Michael; Rad, Ali; Weber, Axel; Neubauer, Bernd A.; Schranz, Dietmar; Bouvagnet, Patrice; Lorenz, Birgit; Hahn, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
959
Record Type:
Journal Article
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5. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Issue 9 (23rd June 2017)

Authors:
Logeswaran, Thushiha; Friedburg, Christoph; Hofmann, Karoline; Akintuerk, Hakan; Biskup, Saskia; Graef, Michael; Rad, Ali; Weber, Axel; Neubauer, Bernd A.; Schranz, Dietmar; Bouvagnet, Patrice; Lorenz, Birgit; Hahn, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
2566
Record Type:
Journal Article
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6. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders. Issue 6 (28th March 2019)

Authors:
Zeitz, Christina; Michiels, Christelle; Neuillé, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; N. Preising, Markus; Blanchar...
Journal:
Human mutation
Issue:
Volume 40:Issue 6(2019)
Page Start:
765
Record Type:
Journal Article
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