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.

https://www.nmd-journal.com/article/S0960-8966(21)00073-0/fulltext


https://www.sciencedirect.com/science/article/pii/S0104001421001494?via%3Dihub


  • 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.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060993/



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

https://www.cell.com/molecular-therapy-family/methods/fulltext/S2329-0501(21)00019-X


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

https://link.springer.com/article/10.1007%2Fs13760-021-01631-3

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

https://osf.io/s7wzf/



2020 :

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

https://www.sciencedirect.com/science/article/abs/pii/S0168365920306076?via%3Dihub


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

https://www.qscience.com/content/papers/10.5339/qproc.2020.NMD.11

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

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1387

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460730/

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

https://academic.oup.com/jnen/article/79/9/998/5895571

https://trialbulletin.com/lib/entry/ct-04299321

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

https://www.frontiersin.org/articles/10.3389/fnmol.2020.00123/full


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

https://www.frontiersin.org/articles/10.3389/fnmol.2020.00122/full


  • Clinical features and LAMA2 mutations of patients with Congenial Muscular Dystrophy Type 1A : a case report and literature review, Gus, 2020

https://pubmed.ncbi.nlm.nih.gov/32571460/

  • Novel LAMA2 variants identified in a patient with white matter abnormalities, Yamamoto-Shimojima, 2020

https://www.nature.com/articles/s41439-020-0103-5


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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271547/


  • 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

https://pubmed.ncbi.nlm.nih.gov/32472139/

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

https://www.frontiersin.org/articles/10.3389/fnmol.2020.00059/full


  • Clinical and Genomic characteristics of LAMA2 Related Congenital Muscular Dystrophy in a patients' cohort from Qatar. A population specific founder variant, Aleem, 2020

https://www.sciencedirect.com/science/article/abs/pii/S0960896620300869


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

https://pubmed.ncbi.nlm.nih.gov/32266982/


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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139799/


  • Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy : from disease to therapeutics, Barraza-Flores, 2020

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026472/


  • Fibrogenesis in LAMA2-Related Muscular Dystrophy is a central tenet of disease etiology, Accorsi, 2020, Feb

https://www.frontiersin.org/articles/10.3389/fnmol.2020.00003/full

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

https://pubmed.ncbi.nlm.nih.gov/31929873/


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

https://pubmed.ncbi.nlm.nih.gov/31667770/



2019 :

https://pubmed.ncbi.nlm.nih.gov/31309178/

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

https://www.nature.com/articles/s41536-019-0084-5

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

https://pubmed.ncbi.nlm.nih.gov/31341277/

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

https://pubmed.ncbi.nlm.nih.gov/31653707/

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

https://www.nature.com/articles/s41598-019-50550-0

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

https://www.sciencedirect.com/science/article/abs/pii/S1388245719311848

  • Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD, Yanay, 2019

https://academic.oup.com/hmg/article-abstract/28/20/3369/5538901?redirectedFrom=fulltext

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

https://www.nature.com/articles/s41586-019-1430-x

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

https://www.sciencedirect.com/science/article/abs/pii/S0960896618314093

  • 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

https://pubmed.ncbi.nlm.nih.gov/30900984/


2018 :

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305815/

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

https://currents.plos.org/md/article/exploratory-profiling-of-urine-micrornas-in-the-dy2jdy2j-mouse-model-of-lama2-cmd-relation-to-disease-progression/

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

https://jcs.biologists.org/content/131/15/jcs212076.short

  • Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018

https://link.springer.com/article/10.1007%2Fs11626-018-0297-8

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

https://academic.oup.com/hmg/article-abstract/28/9/1403/5253587?redirectedFrom=fulltext

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

https://www.nature.com/articles/s41598-018-34362-2

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

https://www.nature.com/articles/s41598-018-33098-3

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

https://link.springer.com/protocol/10.1007%2F978-1-4939-8651-4_36

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

https://www.hindawi.com/journals/crig/2018/3028145/

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

https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23599

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100681/

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

https://www.sciencedirect.com/science/article/pii/S0945053X1830194X?via%3Dihub

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948311/

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

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197388

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

https://link.springer.com/article/10.1007%2Fs00330-018-5472-5

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

https://academic.oup.com/hmg/article/27/11/1905/4939199

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305815/

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

https://www.sciencedirect.com/science/article/pii/S0945053X1830043X?via%3Dihub


2017 :

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5744687/

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

https://www.filnemus.fr/fileadmin/documentation/Documentation_medicale/Congenital_Muscular_Dystrophies_and_and_Myopathies___An_Overview_and_Update.pdf

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440243/

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383203/

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309368/


2016 :

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318262/


2015 :

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

https://onlinelibrary.wiley.com/doi/full/10.1002/mus.24588

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

https://www.sciencedirect.com/science/article/pii/S1063582315000563?via%3Dihub


2014 :

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125840/


2010 :

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

https://www.nmd-journal.com/article/S0960-8966(10)00054-4/fulltext