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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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Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

American journal of human genetics, 2012-02, Vol.90 (2), p.201-216

2012

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Vulcanizable elastomer binders for high areal capacity rechargeable lithium–sulfur battery

Journal of materials science. Materials in electronics, 2021-11, Vol.32 (22), p.26975-26983

2021

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Dietary gelatin enhances non-heme iron absorption possibly via regulation of systemic iron homeostasis in rats

Journal of functional foods, 2019-08, Vol.59, p.272-280

2019

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Nurturing the marriages of urinary liquid biopsies and nano‐diagnostics for precision urinalysis of prostate cancer

Smart medicine, 2023-02, Vol.2 (1), p.e20220020-n/a

2023

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Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

Journal of neuropathology and experimental neurology, 2008-02, Vol.67 (2), p.144-154

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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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

The Journal of clinical investigation, 2008-03, Vol.118 (3), p.904-912

2008

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Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Brain (London, England : 1878), 2009-02, Vol.132 (2), p.452-464

2009

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Loss of fibulin-2 protects against progressive ventricular dysfunction after myocardial infarction

Journal of molecular and cellular cardiology, 2012-01, Vol.52 (1), p.273-282

2012

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Dominant collagen XII mutations cause a distal myopathy

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.1980-1988

2019

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Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Annals of neurology, 2011-01, Vol.69 (1), p.206-211

2011

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Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

American journal of human genetics, 2003-04, Vol.72 (4), p.998-1004

2003

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siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

Molecular therapy. Nucleic acids, 2014-02, Vol.3 (2), p.e147-e147, Article e147

2014

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Predominant fiber atrophy and fiber type disproportion in early ullrich disease

Muscle & nerve, 2008-09, Vol.38 (3), p.1184-1191

2008

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Sulfur-rich polymer/Ketjen Black composites as lithium-sulfur battery cathode with high cycling stability

Journal of alloys and compounds, 2023-11, Vol.962, p.171177, Article 171177

2023

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Multifunctional binder 3M for improving the cycle stability of rechargeable Li-S batteries

New journal of chemistry, 2022-10, Vol.46 (42), p.2129-2137

2022

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Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

American journal of medical genetics, 2005-01, Vol.132A (3), p.296-301

2005

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Multifunctional binder 3M x for improving the cycle stability of rechargeable Li–S batteries

New journal of chemistry, 2022-10, Vol.46 (42), p.20129-20137

2022

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A novel crosslinked sulfur-containing polymer cathode material for high-performance lithium-sulfur batteries

Electrochimica acta, 2022-09, Vol.427, p.140890, Article 140890

2022

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Multifunctional binder 3Mx for improving the cycle stability of rechargeable Li–S batteries

New journal of chemistry, 2022-10, Vol.46 (42), p.20129-20137

2022

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Characterization of Key Factors of Anchovy (Engraulis japonicus) Meat in the Nanoparticle-Mediated Enhancement of Non-Heme Iron Absorption

Journal of agricultural and food chemistry, 2017-12, Vol.65 (51), p.11212-11219

2017

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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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Intrathecal Gene Therapy for Giant Axonal Neuropathy

The New England journal of medicine, 2024-03, Vol.390 (12), p.1092-1104

2024

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Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience

Human gene therapy, 2023-03, Vol.34 (5-6), p.217-227

2023

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

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Vulcanizable elastomer binders for high areal capacity rechargeable lithium–sulfur battery

Dietary gelatin enhances non-heme iron absorption possibly via regulation of systemic iron homeostasis in rats

Nurturing the marriages of urinary liquid biopsies and nano‐diagnostics for precision urinalysis of prostate cancer

Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

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

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Loss of fibulin-2 protects against progressive ventricular dysfunction after myocardial infarction

Dominant collagen XII mutations cause a distal myopathy

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

Sulfur-rich polymer/Ketjen Black composites as lithium-sulfur battery cathode with high cycling stability

Multifunctional binder 3M for improving the cycle stability of rechargeable Li-S batteries

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

Multifunctional binder 3M x for improving the cycle stability of rechargeable Li–S batteries

A novel crosslinked sulfur-containing polymer cathode material for high-performance lithium-sulfur batteries

Multifunctional binder 3Mx for improving the cycle stability of rechargeable Li–S batteries

Characterization of Key Factors of Anchovy (Engraulis japonicus) Meat in the Nanoparticle-Mediated Enhancement of Non-Heme Iron Absorption

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

Intrathecal Gene Therapy for Giant Axonal Neuropathy

Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience

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