LAMA2 (Merosin Deficient/MDC1A)

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• Merosin-deficient congenital muscular dystrophy (MDC1A) Fact Sheet, 2014

• Diagnostic interest of whole-body MRI in early-and-late-onset LAMA2 muscular dystrophies: a large international cohort, Quijano-Roy, 2021

• Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1), Jelinkova, 2021

• Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern, Sakr, 2021

• Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study, Bourmann, 2021

• Epilepsy in LAMA2-related muscular dystrophy: a systemic review of the literature, Salvati, 2021

• Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands, Smeets, 2021

• Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort, Tan, 2021

• A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A, Specht, 2021

• A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient - a case report, 2021

• Identification of a novel LAMA2 c.2217G>A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: case report, El Kadiri, 2021

• Micro-laminin gene therapy can function as an inhibitor of muscle disease in the dy w mouse model of MDC1A, Packer, 2021

• Rimmed vacuoles in late-onset- LAMA2-related limb girdle muscular dystrophy Cho, 2021

• Novel Homozygous Pathogenic Mutations of LAMA2 Gene in Patients with Congenital Muscular Dystrophy, Khodaenia, 2021

• Development of A2G80 peptide-gene complex for targeted delivery to muscle cells, Nirasawa, 2020

• LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort, Zambon, 2020

• Novel mutation identification and copy number variant detection via exam sequencing in congenital muscular dystrophy, Cauley, 2020

• Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis, Magri, 2020

• Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A), Jayakody, 2020

• Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models, 2020

• LAMA2-Related Dystrophies: Clinical, Phenotypes, Disease Biomarkers and Clinical Trial Readiness, Sarkozy, 2020

• Zebrafish Model of LAMA2-Related Congenital Muscular Dystrophy (MDC1A), Fabian, 2020

• Clinical Features and LAMA2 Mutations of Patients with Congenital Muscular Dystrophy Type 1A: A Case Report and Literature Review, Gus, 2020

• Novel LAMA2 Variants Identified in a Patient With White Matter Abnormalities, Yamamoto-Shimojima, 2020

• Laminin-11 Protein Therapy After Disease Onset Slows Muscle Diesease in a Mouse Model of Laminin-a2 Related Congenital Muscular Dystrophy Barraza-Flores, 2020

• A Family of Laminin a2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD, Gawlik, 2020

• Clinical and Genomic Characteristics of LAMA2 Related Congenital Muscular Dystrophy in a Patients' Cohort From Qatar. A Population Specific Founder Variant, Aleem, 2020

• LAMA2 Neuropathies: Human Findings and Pathomechanisms from Mouse Models, 2020

• Epilepsy in LAMA2-related muscular dystrophy: An electro-clinic-radiological characterization, Natera de Benito, 2020

• Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin a2 Chain-Deficient Muscular, Harandi, 2020

• Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics, Barraza-Flores, 2020

• Fibrogenesis in LAMA2-Related Muscular Dystrophy is a Central Tenet of Disease Etiolgoy, Accorsi, 2020

• A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report, Tran, 2020

• Isolation and Characterization of Muscle-Derived Stem Cells from Dystrophic Mouse Models, Onofre-Oliveira, 2020

• Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes, Yurchenco, 2019

• Rare variant in LAMA2 gene causing congenital muscular dystrophy, Amim, 2019

• Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A, Hall, 2019

• A mutation-independent-approach-for-muscular-dystrophy-via-upregulation-of-a-modifier-gene, Kemaladewi, 2019

• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies, Jain, 2019

• Early skeletal muscle pathology and disease progress in the dy3k/dy3k mouse model of congenital muscular dystrophy with laminin a2 chain-deficiency, Gawlik, 2019

• PTPα is required for laminin-2-induced Fyn–Akt signaling to drive oligodendrocyte differentiation, Ly, 2019

• Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy2J/dy2J mouse model by glatiramer acetate, Rabie, 2019

• Pax7, Pax3 and Mamstr Genes are Involved in Skeletal Muscle Impaired Regeneration of dy2J/dy2J Mouse Model of Lama2-CMD, Yanay, 2019

• A mutation-independent approach for muscular dystrophy via upregulaton of a modifier gene, Kemaladewi, 2019

• Exam sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI, Saredi, 2019

• Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure leukoencephalopathy: A case report and protein analysis, Ding, 2019

• Exploratory Profiling of Urine MicroRNAs in dy2J/dy2J Mouse Model of LAMA2-CMD: Relation to Disease Progression, Moreira Soarer Oliveira, 2018

• RGD inhibition of itgb1 ameliorates laminin-a2 deficient zebrafish fibre pathology, Wood, 2018

• Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study, Fontes-Oliveira, 2018

• Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy, Hara, 2018

• LAMA2 gene mutation update: Towards a more comprehensive picture of laminin-a2 variometer and its related phenotypes, Oliveira, 2018

• Identification of Skeletal Muscle Satellite Cells by Immunofluorescence with Pax7 and Laminin Antibodies, 2018, Feng

• Extracellular matrix-driven congenital muscular dystrophies, Mohassel, 2018

• Natural disease history of the dy2J mouse model of laminin a2 (merosin)-deficient congenital muscular dystrophy, Pasteuning-Vuhman, 2018

• Increased polyamines as protective disease modifiers in Congenital Muscular Dystrophy, Kemaladewi, 2018

• Laminin a1 reduces muscular dystrophy in dy2J mice, Gawlik, 2018

• Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017

• Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two year analysis, Nichols, 2017

• Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin a2-related dystrophy, Meilleur, 2017

• Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy, Bendixen, 2016

• LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies, Lokken, 2015

• Laminin-a2 Chain-Deficient Congenital Muscular Dystrophy- Pathophysiology and Development of Treatment, Durbeej, 2015

• Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies, Meilleur, 2014

• Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations, Geranmayeh, 2010