Publication – Page 51 – Généthon

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13

19 février 2021

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect

19 février 2021

Phenotypic Correction of alpha-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector

19 février 2021

Zaspopathy in a large classic late-onset distal myopathy family

19 février 2021

Expression of mdr1 is required for efficient long term regeneration of dystrophic muscle

19 février 2021

Induction of multiple CD8+ T cell responses against the inducible Hsp70 employing an Hsp70 oligoepitope peptide

19 février 2021

Cells for gene therapy and vector production

19 février 2021

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

19 février 2021

Protein, and mRNABased phenotype-genotype correlations in DMD/DMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

19 février 2021

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

19 février 2021