List of works - Carsten G Bönnemann

A Cross-Sectional Study of Nemaline Myopathy

scientific article published on 04 January 2021

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A long-read RNA-seq approach to identify novel transcripts of very large genes

scientific article published on 06 July 2020

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping

scientific article published on 20 September 2019

An ultrafast system for signaling mechanical pain in human skin

scientific article published on 03 July 2019

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

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

scientific article

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

scientific article published on 21 July 2017

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

scientific article

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

scientific article published on 10 October 2019

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

scientific article published on 25 October 2019

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

scientific article

PIEZO2 and perineal mechanosensation are essential for sexual function

scientific article published on 24 August 2023

PIEZO2 mediates injury-induced tactile pain in mice and humans

article

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies

scientific article published on 15 January 2020

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

scientific article published on 19 December 2018

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

scientific article published in January 2005

List of works by Carsten G Bönnemann

A Cross-Sectional Study of Nemaline Myopathy

A form of muscular dystrophy associated with pathogenic variants in JAG2

A long-read RNA-seq approach to identify novel transcripts of very large genes

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping

An ultrafast system for signaling mechanical pain in human skin

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

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

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

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

PIEZO2 and perineal mechanosensation are essential for sexual function

PIEZO2 mediates injury-induced tactile pain in mice and humans

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria