Veille scientifique/

scientific watch

Principales publications scientifiques : (work in progress)

2021 :

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

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

  • Micro-laminin gene therapy can function as an inhibitor of muscle disease in the dyW Mouse model of MDC1A, Packer & Martin, 2021, feb 8

  • Rimmed vacuoles in late-onset LAMA2-related limbgirdle muscular dystrophy, Cho, 2021, Feb 25

  • The cardiac features of patients diagnosed with LAMA2-related muscular dystrophy; a scoping review, K. Bouman & M. Gubbels, feb

2020 :

  • Development of A2G80 pepide-gene complex for targeted delivery to muscle cells, Nirasawa, 2020, Jan 10

  • Structural Repair Strategies for LAMA2 MD using Linker Proteins, Ruegg, 2020, Sept

  • Novel mutation identification and copy number variant detection via exam sequencing in congenital muscular dystrophy, Cauley, 2020, Sep 16

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

  • Cobblestone malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A), Jayakody, 2020, Aug. 22.

  • LAMA2-Related Dystrophies: clinical, phenotypes, disease biomarkers and clinical trial readiness, Sarkozy, 2020, Aug. 5

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

  • Clinical features and LAMA2 mutations of patients with Congenial 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

  • Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD, Barraza-Flores, 2020, June

  • Laminin-11 protein therapy after disease onset slows muscle disease in a mouse model of Laminin-a2 Related Congenital Muscular Dystrophy, Barraza-Flores, 2020, May 26

  • 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

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

  • Antioxidants reduce muscular dytrophy in the d2J/dy2J mouse model of Laminin a2 chain-deficient muscular dystrophy, 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 etiology, Accorsi, 2020, Feb

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

  • Isolation and characterization of muscle-derived stem cells from dystrophy mouse models, Onofre-Oliveira, 2020

2019 :

  • Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A, Hall, 2019, Nov 15

  • 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, Nov.

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

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

  • 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, July

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

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

2018 :

  • Novel LAMA2 gene mutations associated with Merosin-Deficient Congenital Muscular Dystrophy, Hashemi-Gorji, 2018, Nov.

  • Exploratory profiling of urine microRNAs in dy2J/dy2J mouse model of LAMA2-CMD: relation to disease progression, Moreira Soarer Oliveira, 2018, Aug. 27

  • PTPα is required for laminin-2-induced Fyn–Akt signaling to drive oligodendrocyte differentiation, Ly, 2018, Aug 6

  • Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 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

  • Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin a2-related muscular dystrophy, Ge, 2018

  • Exon skipping using antisense oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy, Hara, 2018

  • LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient, 2018, July

  • 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, Feng, 2018, April

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

  • Amelioration of muscle and nerve pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin, Qiao, 2018, June

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

  • Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018, May

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

  • Novel LAMA2 gene mutations associated with Merosin-Deficient Congenital Muscular Dystrophy, Hashemi-Gorji, 2018, Nov.

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

2017 :

  • Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice, Reinhard, 2017

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

  • Child Neurology∫ LAMA2 muscular dystrophy without contractures, Dean, 2017, May

  • 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

2016 :

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

2015 :

  • 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

2014 :

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

2010 :

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