Brunhilde Wirth

Overview

Best Publications

• A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

  Christian L. Lorson;Eric Hahnen;Elliot J. Androphy;Brunhilde Wirth

  1741
  Citations

• Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

  Markus Feldkötter;Verena Schwarzer;Radu Wirth;Thomas F. Wienker

  1146
  Citations

• An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

  Brunhilde Wirth

  774
  Citations

• SMN oligomerization defect correlates with spinal muscular atrophy severity.

  Christian L. Lorson;John Strasswimmer;Jun Mei Yao;James D. Baleja

  606
  Citations

• Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

  Gabriela E. Oprea;Sandra Kröber;Michelle L. McWhorter;Wilfried Rossoll

  595
  Citations

• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

  Richard S. Finkel;Eugenio Mercuri;Oscar H. Meyer;Anita K. Simonds

  589
  Citations

• Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

  L. Brichta;Y. Hofmann;E. Hahnen;F. A. Siebzehnrubl

  504
  Citations

• Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

  Brunhilde Wirth;M. Herz;A. Wetter;S. Moskau

  476
  Citations

• Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

  Matthew D Mailman;John W Heinz;Audrey C Papp;Pamela J Snyder

  418
  Citations

• Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

  Jutta Becker;Oliver Semler;Christian Gilissen;Yun Li

  397
  Citations

• Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

  Yvonne Hofmann;Christian L. Lorson;Stefan Stamm;Elliot J. Androphy

  394
  Citations

• Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

  B. Wirth;L. Brichta;B. Schrank;H. Lochmüller

  387
  Citations

• Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

  E Hahnen;R Forkert;C Marke;S Rudnik-Schöneborn

  346
  Citations

• Mapping of the Gene for Autosomal Recessive Polycystic Kidney-disease (arpkd) To Chromosome 6p21-cen

  K. Zerres;Yves Pirson;G. Mucher;L. Bachner

  298
  Citations

• A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

  Oliver Semler;Lutz Garbes;Katharina Keupp;Daniel Swan

  288
  Citations

• SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

  Markus Riessland;Bastian Ackermann;Anja Förster;Miriam Jakubik

  254
  Citations

• Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6

  Hans-Hermann Hoepken;Suzana Gispert;Blas Morales;Oliver Wingerter

  252
  Citations

• Congenital heart disease is a feature of severe infantile spinal muscular atrophy

  Sabine Rudnik-Schöneborn;Raoul Heller;Corinna Berg;Christopher Betzler

  247
  Citations

• hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1

  Yvonne Hofmann;Brunhilde Wirth

  240
  Citations

• Histone deacetylase inhibitors: possible implications for neurodegenerative disorders

  Eric Hahnen;Jan Hauke;Christian Tränkle;Ilker Y Eyüpoglu

  235
  Citations