Bettina E. Mucha - Dissemin

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All papers authored by Bettina E. Mucha

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2019 René G. Feichtinger, Bettina E. Mucha

ORCID

, Holger Hengel, Zakaria Orfi, Christine Makowski, Junio Dort, Guy D’Anjou, Thi Tuyet Mai Nguyen, Rebecca Buchert

ORCID

, Hendrik Juenger, Peter Freisinger, Sarah Baumeister, Benedikt Schoser, Uwe Ahting, Reinhard Keimer and 21 other authors

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

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2008 Bernward Hinkes, Christopher Vlangos, Saskia Heeringa, Rasheed Gbadegesin, Bettina E. Mucha

ORCID

, Jinhong Liu, Katrin Hasselbacher, Fatih Ozaltin, Friedhelm Hildebrandt

Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

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2007 Rasheed Gbadegesin, Bernward Hinkes, Christopher Vlangos, Bettina Mucha

ORCID

, Jinhong Liu, Jeff Hopcian, Friedhelm Hildebrandt

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome

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2006 Bernward Hinkes, Rc Wiggins, Rasheed Gbadegesin, Cn Vlangos, Dominik Seelow, Gudrun Nurnberg, Puneet Garg, Rakesh Verma, Hassan Chaib, Be Hoskins, Shazia Ashraf, Christian Becker, Hc Hennies, Meera Goyal, Bl Wharram and 32 other authors

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

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Matthias T. F. Wolf, Bettina E. Mucha

ORCID

, Hans C. Hennies, Massimo Attanasio, Franziska Panther, Isabella Zalewski, Stephanie M. Karle, Edgar A. Otto, C. Constantinou Deltas, Arno Fuchshuber, Friedhelm Hildebrandt

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

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Bettina Mucha

ORCID

, Fatih Ozaltin, Bernward G. Hinkes, Katrin Hasselbacher, Rainer G. Ruf, Michael Schultheiss, Daniela Hangan, Bethan E. Hoskins, Anne Schulze Everding, Radovan Bogdanovic, Thomas Seeman, Bernd Hoppe, Friedhelm Hildebrandt

Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9

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2004 Bettina E. Mucha

ORCID

, Rainer G. Ruf, Michael Schultheiss, Roger Wiggins, Arno Fuchshuber, Anne Lichtenberger, Friedhelm Hildebrandt

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

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This paper is made freely available by the publisher.

Rainer G. Ruf, Michael Schultheiss, Anne Lichtenberger, Stephanie M. Karle, Isabella Zalewski, Bettina Mucha

ORCID

, Anne Schulze Everding, Thomas Neuhaus, Ludwig Patzer, Christian Plank, Johannes P. Haas, Fatih Ozaltin, Anita Imm, Arno Fuchshuber, Aysin Bakkaloglu and 1 other authors

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome

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Rainer G. Ruf, Anne Lichtenberger, Stephanie M. Karle, Johannes P. Haas, Michael Schultheiss, Franzisco E. Anacleto, Isabella Zalewski, Anita Imm, Eva-Maria Ruf, Bettina E. Mucha

ORCID

, Arvind Bagga, Thomas Neuhaus, Arno Fuchshuber, Aysin Bakkaloglu, Friedhelm Hildebrandt

Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

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2003 Matthias T. F. Wolf, Bettina E. Mucha

ORCID

, Massimo Attanasio, Isabella Zalewski, Stephanie M. Karle, Hartmut P. H. Neumann, Nazneen Rahman, Birgit Bader, Conrad A. Baldamus, Edgar Otto, Ralph Witzgall, Arno Fuchshuber, Friedhelm Hildebrandt

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

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2000 A. Fuchshuber, M. Vollmer, E. R. Baumgartner, Bettina E. Mucha

ORCID

, F. Hildebrandt

mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation

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