| 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 |
|
| Show low-probability matches. |
