Geneviève Bernard

Leucodystrophies, maladies neurométaboliques et troubles du mouvement

Pediatric neurodegenerative disorders; leukodystrophies; hypomyelinating leukodystrophies; Pol III–related leukodystrophies; RNA polymerase III; myelination delay; gene identification; pathophysiology

Friedman J^, Smith DE^, Issa MY, Stanley V, Wang R, Mendes MI, Wright M, Wigby K, Hildreth A, Crawford J, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, Musaev D, Accogli A, Guerrero K, Tran LT, Ben-Omran T, Salomons GS, Zaki MS, Bernard G^^, Gleeson JG^^. Biallelic mutations in VARS, encoding cytoplasmic valyl-tRNA synthetase, lead to a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 2019 Feb 12;10(1):707 (PMID: 30755602). IF: 12.124

Mendes MI^, Gutierrez Salazar M^, Guerrero K^, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI^^, Bernard G^^. Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a Hypomyelinating Leukodystrophy. Am J Hum Genet 2018, Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22. (PMID: 29576217) IF: 9.025 *

Gauquelin L, Tetreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupre N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018 Jan 1;141(1):e1. Epub 2017 Dec 8. (PMID: 29228109) IF: 10.292 *

La Piana R^, Cayami FK^, Tran LT, Guerrero K, van Spaendonk RML, Õunap K, Pajusalu S, Prokisch H, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C , Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI^^, Bernard G^^. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 2016 Apr 26;86(17):1622-6 (PMID:27029625). IF: 8.286 *

Thiffault I^, Wolf NI^, Forget D^, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates III JR, Coulombe B^^, Bernard G^^ Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Commun. 2015 Jul 7;6:7623 (PMID: 26151409). IF: 11.470