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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2021
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patientsThéo Charnay, Véronique Blanck, Mathieu Cerino, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 25, 2022
Mechanisms of myostatin and activin A accumulation in chronic kidney diseaseStanislas Bataille, Laetitia Dou, Marc Bartoli, et al.
Human Molecular Genetics|February 7, 2008
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutationMarc Bartoli, Evelyne Gicquel, Laetitia Barrault, et al.
Molecular Genetics & Genomic Medicine|June 16, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathyMathieu Cerino, Chloé Di Meglio, Francesca Albertini, et al.
Oncotarget|October 27, 2015
Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancersEmmanuelle Martinez, Françoise Silvy, Fréderic Fina, et al.
Genes|July 27, 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, et al.
Human Mutation|December 3, 2009
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skippingNicolas Wein, Aurélie Avril, Marc Bartoli, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 23, 2023
Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulationStanislas Bataille, Nathalie McKay, Laetitia Koppe, et al.
Neurobiology of Disease|January 6, 2022
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1Rémi Bos, Khalil Rihan, Patrice Quintana, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 13, 2007
NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2ABéatrice Benayoun, Stephen Baghdiguian, Alicia Lajmanovich, et al.
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