C. Gartioux

发表

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex

J. Haines, G. Gyapay, J. Weissenbach, 1996, Nature Genetics.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2019, JCI insight.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations

A. Kariminejad, P. Richard, C. Ledeuil, 2013, Iranian journal of child neurology.

Drug‐induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes

J. Rousset, L. Bidou, G. Butler-Browne, 2008, The journal of gene medicine.

Linkage analysis of candidate myelin genes in familial multiple sclerosis

J. Haines, M. Pericak-Vance, G. Gyapay, 1999, Neurogenetics.

Two novel COLVI long chains in zebrafish that are essential for muscle development.

A. Klein, X. Cousin, E. Kabashi, 2015, Human Molecular Genetics.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

B. Giusti, S. Quijano-roy, K. Bushby, 2006, Annals of neurology.

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

A. Krol, S. Tajbakhsh, P. Guicheney, 2009, BMC Developmental Biology.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

I. Illa, E. Gallardo, J. Díaz-Manera, 2016, Journal of neuromuscular diseases.

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon

A. Krol, P. Guicheney, A. Lescure, 2007, Nucleic acids research.

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy

N. Petit, A. Krol, A. Ferreiro, 2006, EMBO reports.

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.

J. Beckmann, C. Yalçınkaya, E. Seboun, 2000, American journal of human genetics.

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

E. Bertini, B. Giusti, S. Petrini, 2005, Annals of neurology.

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

I. Nelson, N. Romero, B. Eymard, 2022, Journal of neuromuscular diseases.

Compound heterozygous mutations of the TNXB gene cause primary myopathy

J. Schalkwijk, P. Marcorelles, F. Dubas, 2013, Neuromuscular Disorders.

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder

R. Carlier, P. de Mazancourt, K. Bénistan, 2021, Clinical case reports.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

L. Servais, H. Cavé, N. Romero, 2014, Neuromuscular Disorders.

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

C. Bönnemann, B. Eymard, T. Stojkovic, 2021, Journal of neuromuscular diseases.

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

R. Deev, M. Mavlikeev, Z. R. Umakhanova, 2020, Journal of neuromuscular diseases.

Two novel COLVI long chains in zebrafish that are essential for muscle development.

A. Klein, X. Cousin, E. Kabashi, 2015, Human molecular genetics.