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Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Nature genetics, 2011-11, Vol.43 (11), p.1142-1146

2011

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Modeling human skeletal development using human pluripotent stem cells

Proceedings of the National Academy of Sciences - PNAS, 2023-05, Vol.120 (19), p.e2211510120-e2211510120

2023

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Reply to Sabatelli et al.: Detecting Collagen VI in Bethlem Myopathy

The Journal of biological chemistry, 2015-03, Vol.290 (12), p.8012-8012

Lamande, Shireen R

2015

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Proteome profiles of intramuscular connective tissue: influence of aging and physical training

Journal of applied physiology (1985), 2023-05, Vol.134 (5), p.1278-1286

2023

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Effect of rapamycin on bone mass and strength in the α2(I)‐G610C mouse model of osteogenesis imperfecta

Journal of cellular and molecular medicine, 2019-03, Vol.23 (3), p.1735-1745

2019

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Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response

Human molecular genetics, 2020-02, Vol.29 (3), p.353-368

2020

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Activating internal ribosome entry to treat Duchenne muscular dystrophy

Nature medicine, 2014-09, Vol.20 (9), p.987-988

2014

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The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 +/p.G610C) mice

Journal of cellular and molecular medicine, 2022-07, Vol.26 (14), p.4021-4031

2022

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Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond

Matrix biology, 2018-10, Vol.71-72, p.348-367

2018

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A novel device for investigating structure-function relationships and mechanoadaptation of biological tissues

Journal of the mechanical behavior of biomedical materials, 2023-06, Vol.142, p.105868-105868, Article 105868

2023

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GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

Current stem cell reports, 2016-09, Vol.7 (3), p.518-526

2016

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Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

Nature reviews. Genetics, 2009-03, Vol.10 (3), p.173-183

2009

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Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

Genes, 2019-09, Vol.10 (10), p.731

2019

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Genetic Disorders of the Extracellular Matrix

Anatomical record (Hoboken, N.J. : 2007), 2020-06, Vol.303 (6), p.1527-1542

2020

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Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Annals of neurology, 2008-09, Vol.64 (3), p.294-303

2008

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Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function

The Journal of biological chemistry, 2009-05, Vol.284 (18), p.12020-12030

2009

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Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection

Molecular biology of the cell, 2009-06, Vol.20 (11), p.2744-2754

2009

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Extra-skeletal manifestations in mice affected by Clcn7 -dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications

Bone Research, 2019-06, Vol.7 (1), p.17-17, Article 17

2019

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Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix

The Journal of biological chemistry, 2009-10, Vol.284 (41), p.28204-28211

2009

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Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia

American journal of human genetics, 2008-03, Vol.82 (3), p.786-793

2008

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Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia

Human mutation, 2005-06, Vol.25 (6), p.525-534

2005

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Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice

Molecules (Basel, Switzerland), 2021-02, Vol.26 (4), p.853

2021

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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

PloS one, 2024-01, Vol.19 (1), p.e0294847-e0294847

2024

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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

Annals of neurology, 2016-07, Vol.80 (1), p.101-111

2016

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Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Modeling human skeletal development using human pluripotent stem cells

Reply to Sabatelli et al.: Detecting Collagen VI in Bethlem Myopathy

Proteome profiles of intramuscular connective tissue: influence of aging and physical training

Effect of rapamycin on bone mass and strength in the α2(I)‐G610C mouse model of osteogenesis imperfecta

Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response

Activating internal ribosome entry to treat Duchenne muscular dystrophy

The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 +/p.G610C) mice

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond

A novel device for investigating structure-function relationships and mechanoadaptation of biological tissues

GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

Genetic Disorders of the Extracellular Matrix

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection

Extra-skeletal manifestations in mice affected by Clcn7 -dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications

Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix

Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia

Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

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