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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 651, doi. 10.1038/ng.359
By:
- Guernsey, Duane L.;
- Haiyan Jiang;
- Campagna, Dean R.;
- Evans, Susan C.;
- Ferguson, Meghan;
- Kellogg, Mark D.;
- Lachance, Mathieu;
- Matsuoka, Makoto;
- Nightingale, Mathew;
- Rideout, Andrea;
- Saint-Amant, Louis;
- Schmidt, Paul J.;
- Orr, Andrew;
- Bottomley, Sylvia S.;
- Fleming, Mark D.;
- Ludman, Mark;
- Dyack, Sarah;
- Fernandez, Conrad V.;
- Samuels, Mark E.
Publication type:
Article
Horner Syndrome in Birds of Prey.
Published in:
Journal of Avian Medicine & Surgery, 2019, v. 33, n. 4, p. 381, doi. 10.1647/2018-383
By:
- LaChance, Mathieu K.;
- Fitzgerald, Guy;
- Lair, Stéphane;
- Desmarchelier, Marion R.
Publication type:
Article
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Published in:
Brain: A Journal of Neurology, 2011, v. 134, n. 2, p. 602, doi. 10.1093/brain/awq329
By:
- Valdmanis, Paul N.;
- Dupré, Nicolas;
- Lachance, Mathieu;
- Stochmanski, Shawn J.;
- Belzil, Veronique V.;
- Dion, Patrick A.;
- Thiffault, Isabelle;
- Brais, Bernard;
- Weston, Lyle;
- Saint-Amant, Louis;
- Samuels, Mark E.;
- Rouleau, Guy A.
Publication type:
Article
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 9, p. 1881, doi. 10.1111/epi.16316
By:
- Jiang, Xiao;
- Raju, Praveen K.;
- D'Avanzo, Nazzareno;
- Lachance, Mathieu;
- Pepin, Julie;
- Dubeau, François;
- Mitchell, Wendy G.;
- Bello‐Espinosa, Luis E.;
- Pierson, Tyler M.;
- Minassian, Berge A.;
- Lacaille, Jean‐Claude;
- Rossignol, Elsa
Publication type:
Article
Remodeled cortical inhibition prevents motor seizures in generalized epilepsy.
Published in:
2018
By:
- Jiang, Xiao;
- Lupien‐Meilleur, Alexis;
- Tazerart, Sabrina;
- Lachance, Mathieu;
- Samarova, Elena;
- Araya, Roberto;
- Lacaille, Jean‐Claude;
- Rossignol, Elsa;
- Lupien-Meilleur, Alexis;
- Lacaille, Jean-Claude
Publication type:
journal article
The genetic landscape of infantile spasms.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 18, p. 4846, doi. 10.1093/hmg/ddu199
By:
- Michaud, Jacques L.;
- Lachance, Mathieu;
- Hamdan, Fadi F.;
- Carmant, Lionel;
- Lortie, Anne;
- Diadori, Paola;
- Major, Philippe;
- Meijer, Inge A.;
- Lemyre, Emmanuelle;
- Cossette, Patrick;
- Mefford, Heather C.;
- Rouleau, Guy A.;
- Rossignol, Elsa
Publication type:
Article
Stimulation-induced ectopicity and propagation windows in model damaged axons.
Published in:
Journal of Computational Neuroscience, 2014, v. 37, n. 3, p. 523, doi. 10.1007/s10827-014-0521-9
By:
- Lachance, Mathieu;
- Longtin, André;
- Morris, Catherine;
- Yu, Na;
- Joós, Béla
Publication type:
Article

Found: 7

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Horner Syndrome in Birds of Prey.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome.

Remodeled cortical inhibition prevents motor seizures in generalized epilepsy.

The genetic landscape of infantile spasms.

Stimulation-induced ectopicity and propagation windows in model damaged axons.