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Francesca Puppo - Publications

Affiliations: 
2011- Aix Marseille University 
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15 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, et al. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes. 13. PMID 35741838 DOI: 10.3390/genes13061076  0.724
2020 Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation. PMID 32668095 DOI: 10.1002/Humu.24083  0.656
2019 Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, et al. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurology. Genetics. 5: e372. PMID 31872053 DOI: 10.1212/Nxg.0000000000000372  0.439
2017 Nguyen K, Puppo F, Roche S, Gaillard MC, Chaix C, Lagarde A, Pierret M, Vovan C, Olschwang S, Salort-Campana E, Attarian S, Bartoli M, Bernard R, Magdinier F, Levy N. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral Dystrophy. Human Mutation. PMID 28744936 DOI: 10.1002/Humu.23304  0.582
2016 Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, et al. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Bmc Medical Genetics. 17: 66. PMID 27634379 DOI: 10.1186/S12881-016-0328-9  0.644
2016 Bevilacqua J, Mathieu Y, Krahn M, Bartoli M, Castiglioni C, Kleinsteuber K, Díaz J, Puppo F, Cerino M, Courrier S, Gorokhova S, Miranda N, Trangulao A, González-Hormazábal P, Avaria M, et al. Calpainopathy in Chile, first cases reported Neuromuscular Disorders. 26: S91. DOI: 10.1016/J.Nmd.2016.06.023  0.661
2015 Mariot V, Roche S, Hourdé C, Portilho D, Sacconi S, Puppo F, Duguez S, Rameau P, Caruso N, Delezoide AL, Desnuelle C, Bessières B, Collardeau S, Feasson L, Maisonobe T, et al. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Annals of Neurology. PMID 26018399 DOI: 10.1002/Ana.24446  0.43
2015 Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Bertaux K, Bernard R, Attarian S, Goto K, Nishino I, Hayashi Y, Magdinier F, Krahn M, Helmbacher F, et al. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation. 36: 443-53. PMID 25615407 DOI: 10.1002/Humu.22760  0.663
2014 Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, et al. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology. 83: 733-42. PMID 25031281 DOI: 10.1212/Wnl.0000000000000708  0.445
2014 Simon J, Barthelemy F, Puppo F, Courrier S, Bartoli M, Krahn M. Cavéoline 3 et lamines A/C : une même voie physiologique ? Revue Neurologique. 170: A42. DOI: 10.1016/J.Neurol.2014.01.163  0.611
2013 Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, et al. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. Plos Genetics. 9: e1003550. PMID 23785297 DOI: 10.1371/Journal.Pgen.1003550  0.514
2007 Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I. A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. Human Mutation. 28: 168-76. PMID 16986122 DOI: 10.1002/humu.20397  0.316
2006 Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I. Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Annals of Human Genetics. 70: 12-26. PMID 16441254 DOI: 10.1111/j.1529-8817.2005.00196.x  0.367
2005 Griseri P, Bachetti T, Puppo F, Lantieri F, Ravazzolo R, Devoto M, Ceccherini I. A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression. Human Mutation. 25: 189-95. PMID 15643606 DOI: 10.1002/humu.20135  0.352
2002 Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. American Journal of Human Genetics. 71: 969-74. PMID 12214285 DOI: 10.1086/342774  0.322
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