Virginie Carmignac

Guidelines for the use and interpretation of assays for monitoring autophagy

Daniel J. Klionsky, Fábio Camargo Abdalla, Hagai Abeliovich et al. · Autophagy · 2012 · 4K citations · Full text

Mitophagy, Particular Autophagy Assays, Immunology +19

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy et al. · Annals of Neurology · 2007 · 245 citations

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb et al. · The American Journal of Human Genetics · 2013 · 199 citations · Full text

Metabolic Syndrome, Genetics, Diabetes +3

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band – implications for hereditary myopathies

Atsushi Fukuzawa, Stephan Lange, Mark Holt et al. · Journal of Cell Science · 2008 · 192 citations