Francesca Puppo
Affiliations: | 2011- | Aix Marseille University |
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"Francesca Puppo"Mean distance: 17.58 (cluster 32) | S | N | B | C | P |
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| Cerino M, González-Hormazábal P, Abaji M, et al. (2022) Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes. 13 |
| Dionnet E, Defour A, Da Silva N, et al. (2020) Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation |
| Roche S, Dion C, Broucqsault N, et al. (2019) Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurology. Genetics. 5: e372 |
| Nguyen K, Puppo F, Roche S, et al. (2017) Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral Dystrophy. Human Mutation |
| Gaillard MC, Puppo F, Roche S, et al. (2016) Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Bmc Medical Genetics. 17: 66 |
| Bevilacqua J, Mathieu Y, Krahn M, et al. (2016) Calpainopathy in Chile, first cases reported Neuromuscular Disorders. 26: S91 |
| Mariot V, Roche S, Hourdé C, et al. (2015) Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Annals of Neurology |
| Puppo F, Dionnet E, Gaillard MC, et al. (2015) Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation. 36: 443-53 |
| Gaillard MC, Roche S, Dion C, et al. (2014) Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology. 83: 733-42 |
| Simon J, Barthelemy F, Puppo F, et al. (2014) Cavéoline 3 et lamines A/C : une même voie physiologique ? Revue Neurologique. 170: A42 |