Carsten G. Bönnemann

Overview

Best Publications

• Myotubes differentiate optimally on substrates with tissue-like stiffness: pathological implications for soft or stiff microenvironments

  Adam J. Engler;Maureen A. Griffin;Shamik Sen;Carsten G. Bönnemann

  2020
  Citations

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

  674
  Citations

• Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy

  Satoru Noguchi;Elizabeth M. McNally;Kamel Ben Othmane;Yasuko Hagiwara

  643
  Citations

• β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

  Carsten G. Bönnemann;Raju Modi;Satoru Noguchi;Yuji Mizuno

  553
  Citations

• Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

  Laura K. Conlin;Brian D. Thiel;Carsten G. Bonnemann;Livija Medne

  488
  Citations

• Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

  Ana Ferreiro;Susana Quijano-Roy;Claire Pichereau;Behzad Moghadaszadeh

  440
  Citations

• Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

  Flanigan Km;Dunn Dm;von Niederhausern A;Soltanzadeh P

  358
  Citations

• The Role of PIEZO2 in Human Mechanosensation

  Alexander T. Chesler;Marcin Szczot;Diana Bharucha-Goebel;Marta Čeko

  358
  Citations

• Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

  Richard S. Finkel;Kevin M. Flanigan;Brenda Wong;Carsten Bönnemann

  295
  Citations

• De Novo LMNA Mutations Cause a New Form of Congenital Muscular Dystrophy

  Susana Quijano-Roy;Blaise Mbieleu;Carsten G. Bönnemann;Pierre Yves Jeannet

  294
  Citations

• Approach to the diagnosis of congenital myopathies

  Kathryn N. North;Kathryn N. North;Ching H. Wang;Nigel Clarke;Heinz Jungbluth;Heinz Jungbluth

  293
  Citations

• Caveolin-3 in Muscular Dystrophy

  Elizabeth M. McNally;Elizabeth M. McNally;Eloisa de Sá Moreira;David J. Duggan;Carsten G. Bönnemann

  287
  Citations

• Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation

  Emanuela Gussoni;Richard R. Bennett;Kristina R. Muskiewicz;Todd Meyerrose

  281
  Citations

• A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

  Ana Ferreiro;Nicole Monnier;Norma B. Romero;Jean-Paul Leroy

  256
  Citations

• Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

  James J. Dowling;Andrew P. Vreede;Sean E. Low;Elizabeth M. Gibbs

  250
  Citations

• Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

  Ana Ferreiro;Chantal Ceuterick‐de Groote;Jared J. Marks;Nathalie Goemans

  247
  Citations

• Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

  Ching C.H. Wang;Carsten C.G. Bönnemann;Anne A. Rutkowski;Thomas T. Sejersen

  239
  Citations

• Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

  Keren J. Carss;Elizabeth Stevens;A. Reghan Foley;Sebahattin Cirak;Sebahattin Cirak

  234
  Citations

• The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

  M. Vainzof;M. R. Passos-Bueno;M. Canovas;E. S. Moreira

  226
  Citations

• Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

  Eugenio Mercuri;Eugenio Mercuri;Anne Lampe;Joanna Allsop;Ravi Knight

  219
  Citations