Veille scientifique/
scientific watch
Principales publications scientifiques : (mis à jour régulièrement)
2022 :
The jam session between musle stem cells and the extracellular matrix in the tisue microenvironment, M. Loreti, A. Sacco, 2022, Feb.
2021 :
Editorial: Current Insights Into LAMA2 Disease, SC Previtali, RD Cohn and MA Ruegg, 2021, Nov.
A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy, P.A. Chausova, 2021, Oct.
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy, Sarah J Smith, 2021, Sept.
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A, Afshin Khorrami, 2021, Sept.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort, S. Quijano-Roy, 2021, Sept.
Muscle Magnetic Resonance Imaging in Patients with LAMA2-Related Muscular Dystrophy, Dan Dan Tan, 2021, Sept.
CONGENITAL MUSCULAR DYSTROPHIES, EP.70 Exploring the role of genetic modifiers in a mild LAMA2-RD case associated with a LAMA2 loss-of-function mutation, V. Pini, 2021, Oct.
CONGENITAL MUSCULAR DYSTROPHIES, EP.69 LAST STRONG: LAMA2 and SELENON to study trial readiness, outcome measures and natural history, K. Bouman, 2021, Oct.
CONGENITAL MUSCULAR DYSTROPHIES, EP.68 Therapeutic effect of linker protein-mediated gene therapy in a mouse model for LAMA2-related muscular dystrophy, J. Reinhard, 2021, Oct.
Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1), Sarka Jelinkova, 2021, Sept.
Congenital muscular dystrophies : what is new ? A. Zambon & F. Muntoni, 2021, Jul.
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort, Dandan Tan, 2021, Jul.
A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient - a case report, Jorge Pelicano Paulos, 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.
Novel homozygous pathogenic mutations of LAMA2 gene in patients with Congenital Muscular Dystrophy, 2021, Ap 4
Novel mutation identification and copy number variant detection via exam sequencing in congenital muscular dystrophy, Cauley, 2020, Sept. 16
Limb-girdle muscular dystrophy due to LAMA2 gene mutations : new mutations expand the clinical spectrum of a still challenging diagnosis, Magri, 2020, June
LAMA2 neuropathies : human findings and pathomechanisms from mouse models, Previtali & Zambon, 2020, April 23
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A : case report, Tran, 2020, Feb
2019 :
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report, Amin, 2019
2018 :
Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018
2017 :
Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice, Reinhard, 2017
2016 :
2015 :
2014 :
2010 :
2008 :
2004 :