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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

Brain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.246-268

2015

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Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils

The international journal of biochemistry & cell biology, 2014-08, Vol.53, p.51-54

2014

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Diagnostic approach to the congenital muscular dystrophies

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311

2014

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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Human molecular genetics, 2014-05, Vol.23 (9), p.2339-2352

2014

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Muscular dystrophies

The Lancet (British edition), 2019-11, Vol.394 (10213), p.2025-2038

2019

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Anti–3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child

Muscle & nerve, 2017-12, Vol.56 (6), p.1177-1181

2017

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Approach to the diagnosis of congenital myopathies

Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.97-116

2014

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

American journal of human genetics, 2013-07, Vol.93 (1), p.29-41

2013

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Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle

Magnetic resonance in medicine, 2014-07, Vol.72 (1), p.8-19

2014

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Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Nature communications, 2021-01, Vol.12 (1), p.657-657, Article 657

2021

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Natural history of pulmonary function in collagen VI-related myopathies

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3625-3633

2013

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Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Molecular therapy. Nucleic acids, 2024-06, Vol.35 (2), p.102178-102178, Article 102178

2024

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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

American journal of human genetics, 2014-01, Vol.94 (1), p.62-72

2014

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Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Human molecular genetics, 2014-05, Vol.23 (9), p.2353-2363

2014

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Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Human mutation, 2013-11, Vol.34 (11), p.1558-1567

2013

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Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

Neurology, 2013-04, Vol.80 (17), p.1584-1589

2013

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Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-319, Article 319

2021

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De novo LMNA mutations cause a new form of congenital muscular dystrophy

Annals of neurology, 2008-08, Vol.64 (2), p.177-186

2008

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Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy

The Journal of cell biology, 2008-12, Vol.183 (6), p.1033-1048

2008

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The collagen VI-related myopathies: muscle meets its matrix

Nature reviews. Neurology, 2011-07, Vol.7 (7), p.379-390

Bönnemann, Carsten G

2011

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Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

Annals of neurology, 2018-01, Vol.83 (1), p.153-165

2018

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Attribution of original contribution in large datasets in the era of multi‐omic studies

Annals of clinical and translational neurology, 2022-06, Vol.9 (6), p.895-896

2022

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COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy

The Journal of biological chemistry, 2013-05, Vol.288 (20), p.14320-14331

2013

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Dystrophin Immunity after Gene Therapy for Duchenne’s Muscular Dystrophy

The New England journal of medicine, 2023-06, Vol.388 (24), p.2294-2296

2023

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Designer AAV muscle up

Cell, 2021-09, Vol.184 (19), p.4845-4847

Bönnemann, Carsten G.

2021

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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils

Diagnostic approach to the congenital muscular dystrophies

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Muscular dystrophies

Anti–3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child

Approach to the diagnosis of congenital myopathies

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Natural history of pulmonary function in collagen VI-related myopathies

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy

The collagen VI-related myopathies: muscle meets its matrix

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

Attribution of original contribution in large datasets in the era of multi‐omic studies

COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy

Dystrophin Immunity after Gene Therapy for Duchenne’s Muscular Dystrophy

Designer AAV muscle up

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