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List of works by Bettina Mucha

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

scientific article published on 16 May 2019

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

scientific article published on 26 April 2006

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

scientific article published on 10 January 2007

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

scientific article published on February 2006

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

scientific article published in November 2003

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

scientific article

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

scientific article published in March 2004

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

scientific article

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

scientific article published on 23 January 2008

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

scientific article published on 01 August 2000

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