Elsa Rossignol, Ph.D/MD - Publications

Neurosciences Université de Montréal, Montréal, Canada 

24 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
2021 Lupien-Meilleur A, Jiang X, Lachance M, Taschereau-Dumouchel V, Gagnon L, Vanasse C, Lacaille JC, Rossignol E. Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders. Molecular Psychiatry. PMID 34127816 DOI: 10.1038/s41380-021-01175-1  0.391
2019 Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. PMID 31468518 DOI: 10.1111/Epi.16316  0.384
2019 Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, ... ... Rossignol E, et al. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. American Journal of Human Genetics. PMID 31256876 DOI: 10.1016/J.Ajhg.2019.05.019  0.403
2019 Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, ... ... Rossignol E, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics. PMID 31031012 DOI: 10.1016/J.Ajhg.2019.03.022  0.445
2018 Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, et al. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Human Molecular Genetics. PMID 30335140 DOI: 10.1093/Hmg/Ddy370  0.444
2018 Jiang X, Lupien-Meilleur A, Tazerart S, Lachance M, Samarova E, Araya R, Lacaille JC, Rossignol E. Remodeled cortical inhibition prevents motor seizures in generalized epilepsy. Annals of Neurology. PMID 30048010 DOI: 10.1002/Ana.25301  0.604
2017 Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, et al. FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis. Human Molecular Genetics. PMID 29267967 DOI: 10.1093/Hmg/Ddx426  0.397
2017 Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, ... ... Rossignol E, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/J.Ajhg.2017.09.008  0.367
2017 Desnous B, Arbour M, Nguyen HS, Lortie A, Chartrand D, Rossignol E, Diadori P, Major P, Carmant L, Birca A. 3. Asymmetric hypsarrythmia: An insight into the pathophysiology of infantile spasms. A retrospective cohort Clinical Neurophysiology. 128. DOI: 10.1016/J.Clinph.2017.08.012  0.319
2016 Jiang X, Lachance M, Rossignol E. Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy. Progress in Brain Research. 226: 81-126. PMID 27323940 DOI: 10.1016/Bs.Pbr.2016.04.012  0.45
2015 Hamdan FF, Perrault I, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 119-20. PMID 26531641 DOI: 10.1016/J.Ijdevneu.2015.04.319  0.418
2015 Kim DT, Rossignol E, Najem K, Ospina LH. Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 19: 478-9. PMID 26486037 DOI: 10.1016/J.Jaapos.2015.05.015  0.31
2015 Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL. A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis. Human Mutation. 36: 753-7. PMID 25864427 DOI: 10.1002/Humu.22797  0.344
2015 Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. European Journal of Human Genetics : Ejhg. 23: 1505-12. PMID 25735478 DOI: 10.1038/Ejhg.2015.21  0.397
2015 Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human Mutation. 36: 69-78. PMID 25265257 DOI: 10.1002/Humu.22709  0.331
2014 Rossignol E, Kobow K, Simonato M, Loeb JA, Grisar T, Gilby KL, Vinet J, Kadam SD, Becker AJ. WONOEP appraisal: new genetic approaches to study epilepsy. Epilepsia. 55: 1170-86. PMID 24965021 DOI: 10.1111/Epi.12692  0.401
2014 Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics. 94: 891-7. PMID 24814191 DOI: 10.1016/J.Ajhg.2014.04.012  0.402
2014 Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/Hmg/Ddu199  0.326
2014 Meijer IA, Vanasse M, Nizard S, Robitaille Y, Rossignol E. An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder. Muscle & Nerve. 49: 134-8. PMID 23893323 DOI: 10.1002/Mus.23968  0.303
2013 Rossignol E, Kruglikov I, Van Den Maagdenberg AMJM, Rudy B, Fishell G. CaV2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures Annals of Neurology. 74: 209-222. PMID 23595603 DOI: 10.1002/Ana.23913  0.631
2012 Close J, Xu H, De Marco García N, Batista-Brito R, Rossignol E, Rudy B, Fishell G. Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 17690-705. PMID 23223290 DOI: 10.1523/Jneurosci.3583-12.2012  0.591
2009 Batista-Brito R, Rossignol E, Hjerling-Leffler J, Denaxa M, Wegner M, Lefebvre V, Pachnis V, Fishell G. The cell-intrinsic requirement of Sox6 for cortical interneuron development. Neuron. 63: 466-81. PMID 19709629 DOI: 10.1016/J.Neuron.2009.08.005  0.651
2009 Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscular Disorders : Nmd. 19: 330-4. PMID 18337100 DOI: 10.1016/J.Nmd.2008.01.007  0.327
2007 Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 69: 1937-41. PMID 17998485 DOI: 10.1212/01.Wnl.0000290831.08585.2C  0.337
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