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SYNE1 Deficiency.

Beaudin M, Gamache PL, Gros-Louis F, Dupré N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Feb 23 [updated 2018 Dec 6].


Cell Seeding on UV-C-Treated 3D Polymeric Templates Allows for Cost-Effective Production of Small-Caliber Tissue-Engineered Blood Vessels.

Galbraith T, Roy V, Bourget JM, Tsutsumi T, Picard-Deland M, Morin JF, Gauvin R, Ismail AA, Auger FA, Gros-Louis F.

Biotechnol J. 2019 Jan;14(1):e1800306. doi: 10.1002/biot.201800306. Epub 2018 Dec 21.


Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis.

Paré B, Lehmann M, Beaudin M, Nordström U, Saikali S, Julien JP, Gilthorpe JD, Marklund SL, Cashman NR, Andersen PM, Forsberg K, Dupré N, Gould P, Brännström T, Gros-Louis F.

Sci Rep. 2018 Sep 21;8(1):14223. doi: 10.1038/s41598-018-31773-z.


Potential skin involvement in ALS: revisiting Charcot's observation - a review of skin abnormalities in ALS.

Paré B, Gros-Louis F.

Rev Neurosci. 2017 Jul 26;28(5):551-572. doi: 10.1515/revneuro-2017-0004. Review.


Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.

Ohta Y, Soucy G, Phaneuf D, Audet JN, Gros-Louis F, Rouleau GA, Blasco H, Corcia P, Andersen PM, Nordin F, Yamashita T, Abe K, Julien JP.

Hum Mol Genet. 2016 Nov 1;25(21):4771-4786. doi: 10.1093/hmg/ddw304.


An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic Analysis.

Paré B, Deschênes LT, Pouliot R, Dupré N, Gros-Louis F.

Front Cell Neurosci. 2016 Mar 31;10:70. doi: 10.3389/fncel.2016.00070. eCollection 2016. Erratum in: Front Cell Neurosci. 2016;10:107.


High yield extraction of pure spinal motor neurons, astrocytes and microglia from single embryo and adult mouse spinal cord.

Beaudet MJ, Yang Q, Cadau S, Blais M, Bellenfant S, Gros-Louis F, Berthod F.

Sci Rep. 2015 Nov 18;5:16763. doi: 10.1038/srep16763.


Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.

Paré B, Touzel-Deschênes L, Lamontagne R, Lamarre MS, Scott FD, Khuong HT, Dion PA, Bouchard JP, Gould P, Rouleau GA, Dupré N, Berthod F, Gros-Louis F.

Acta Neuropathol Commun. 2015 Jan 31;3:5. doi: 10.1186/s40478-014-0181-z.


Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival.

Saxena S, Roselli F, Singh K, Leptien K, Julien JP, Gros-Louis F, Caroni P.

Neuron. 2013 Oct 2;80(1):80-96. doi: 10.1016/j.neuron.2013.07.027. Epub 2013 Oct 2.


Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, René F, Drapeau P, Rouleau GA, Dupuis L.

Hum Mol Genet. 2013 Jun 15;22(12):2350-60. doi: 10.1093/hmg/ddt080. Epub 2013 Feb 26.


Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Gros-Louis F, Belzil V, Spiegelman D, Henrion E, Diallo O, Desjarlais A, Gauthier J, Camu W, Dion PA, Rouleau GA.

Arch Neurol. 2011 May;68(5):587-93. doi: 10.1001/archneurol.2010.351. Epub 2011 Jan 10.


Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.

Bosco DA, Morfini G, Karabacak NM, Song Y, Gros-Louis F, Pasinelli P, Goolsby H, Fontaine BA, Lemay N, McKenna-Yasek D, Frosch MP, Agar JN, Julien JP, Brady ST, Brown RH Jr.

Nat Neurosci. 2010 Nov;13(11):1396-403. doi: 10.1038/nn.2660. Epub 2010 Oct 17.


Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS.

Gros-Louis F, Soucy G, Larivière R, Julien JP.

J Neurochem. 2010 Jun;113(5):1188-99. doi: 10.1111/j.1471-4159.2010.06683.x. Epub 2010 Mar 14.


Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.

Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, D'Amour M, Camu W, Meininger V, Bouchard JP, Rouleau GA, Julien JP.

Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21777-82. doi: 10.1073/pnas.0902174106. Epub 2009 Dec 9.


Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

Gros-Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, Urushitani M, Lin L, Dion P, Zhu Q, Drapeau P, Julien JP, Rouleau GA.

Hum Mol Genet. 2008 Sep 1;17(17):2691-702. doi: 10.1093/hmg/ddn171. Epub 2008 Jun 16.


Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA.

Ann Neurol. 2007 Jul;62(1):93-8.


[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia].

Dupré N, Bouchard JP, Gros-Louis F, Rouleau GA.

Med Sci (Paris). 2007 Mar;23(3):261-2. French. No abstract available.


Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA.

Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10.


A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B.

Brain. 2006 Sep;129(Pt 9):2332-40. Epub 2006 May 3.


Genetics of familial and sporadic amyotrophic lateral sclerosis.

Gros-Louis F, Gaspar C, Rouleau GA.

Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):956-72. Epub 2006 Feb 10. Review.

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