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Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.

Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.

Neurology. 2019 Oct 15;93(16):e1543-e1549. doi: 10.1212/WNL.0000000000008313. Epub 2019 Sep 18.


Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report.

McNeil-Gauthier AL, Brais B, Rouleau G, Anoja N, Ducharme S.

Neurocase. 2019 Jun - Aug;25(3-4):133-137. doi: 10.1080/13554794.2019.1625928. Epub 2019 Jun 24.


The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.

Choquet K, Pinard M, Yang S, Moir RD, Poitras C, Dicaire MJ, Sgarioto N, Larivière R, Kleinman CL, Willis IM, Gauthier MS, Coulombe B, Brais B.

Mol Brain. 2019 Jun 20;12(1):59. doi: 10.1186/s13041-019-0479-7.


Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease.

Accogli A, Brais B, Tampieri D, La Piana R.

J Neuropsychiatry Clin Neurosci. 2019 Summer;31(3):276-279. doi: 10.1176/appi.neuropsych.18110279. Epub 2019 May 3. No abstract available.


Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Briand MM, Rodrigue X, Lessard I, Mathieu J, Brais B, Côté I, Gagnon C.

J Neurol Sci. 2019 May 15;400:39-41. doi: 10.1016/j.jns.2019.03.008. Epub 2019 Mar 12.


Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.

Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL.

J Biol Chem. 2019 May 3;294(18):7445-7459. doi: 10.1074/jbc.RA118.006271. Epub 2019 Mar 21.


Sacs R272C missense homozygous mice develop an ataxia phenotype.

Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B.

Mol Brain. 2019 Mar 12;12(1):19. doi: 10.1186/s13041-019-0438-3.


The requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.

Côté C, Gagnon C, Youssof S, sKurtz N, Brais B.

Muscle Nerve. 2019 Apr;59(4):445-450. doi: 10.1002/mus.26405. Epub 2019 Jan 11.


3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation.

La Piana R, Leppert IR, Pike GB, Lanthier S, Brais B, Tampieri D.

J Clin Neurosci. 2018 Dec;58:25-29. doi: 10.1016/j.jocn.2018.10.080. Epub 2018 Oct 24.


Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.

Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B, Durham HD.

FASEB J. 2019 Feb;33(2):2982-2994. doi: 10.1096/fj.201801556R. Epub 2018 Oct 17.


From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.

Orphanet J Rare Dis. 2018 Sep 19;13(1):165. doi: 10.1186/s13023-018-0898-z.


An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.

Gagnon C, Lessard I, Lavoie C, Côté I, St-Gelais R, Mathieu J, Brais B.

Neurology. 2018 Oct 2;91(14):e1307-e1311. doi: 10.1212/WNL.0000000000006290. Epub 2018 Aug 29.


Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d'excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy.

Campbell C, Selby K, McMillan H, Vajsar J, Korngut L, Brais B, MacKenzie A, Oskoui M.

Can J Neurol Sci. 2018 Sep;45(5):516-517. doi: 10.1017/cjn.2018.59. Epub 2018 Jul 24. No abstract available.


Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy.

Abu-Baker A, Parker A, Ramalingam S, Laganiere J, Brais B, Neri C, Dion P, Rouleau G.

Neurology. 2018 Aug 7;91(6):e551-e561. doi: 10.1212/WNL.0000000000005942. Epub 2018 Jul 13.


Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.

Ménade M, Kozlov G, Trempe JF, Pande H, Shenker S, Wickremasinghe S, Li X, Hojjat H, Dicaire MJ, Brais B, McPherson PS, Wong MJH, Young JC, Gehring K.

J Biol Chem. 2018 Aug 17;293(33):12832-12842. doi: 10.1074/jbc.RA118.003939. Epub 2018 Jun 26.


Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.

Ady V, Toscano-Márquez B, Nath M, Chang PK, Hui J, Cook A, Charron F, Larivière R, Brais B, McKinney RA, Watt AJ.

J Physiol. 2018 Sep;596(17):4253-4267. doi: 10.1113/JP275902. Epub 2018 Jul 19. Erratum in: J Physiol. 2019 Jul;597(13):3503.


Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.

Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J, Gagnon C.

J Neurol Sci. 2018 Jul 15;390:4-9. doi: 10.1016/j.jns.2018.03.033. Epub 2018 Mar 30.


Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Gagnon C, Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J.

Arch Phys Med Rehabil. 2018 Sep;99(9):1747-1754. doi: 10.1016/j.apmr.2018.01.026. Epub 2018 Feb 17.


POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.

Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. No abstract available.


Mother's curse neutralizes natural selection against a human genetic disease over three centuries.

Milot E, Moreau C, Gagnon A, Cohen AA, Brais B, Labuda D.

Nat Ecol Evol. 2017 Sep;1(9):1400-1406. doi: 10.1038/s41559-017-0276-6. Epub 2017 Aug 21.


Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP.

Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197.


Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):441-448. doi: 10.1111/nan.12410. Epub 2017 Jun 6.


Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination.

Lessard I, Lavoie C, Côté I, Mathieu J, Brais B, Gagnon C.

J Neurol Sci. 2017 Jun 15;377:193-196. doi: 10.1016/j.jns.2017.03.046. Epub 2017 Mar 29.


Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.

Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B.

Mol Brain. 2017 Apr 13;10(1):13. doi: 10.1186/s13041-017-0294-y.


Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.

La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA.

Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5.


Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M.

Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5.


Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.

Neurogenetics. 2016 Apr;17(2):137-41. doi: 10.1007/s10048-016-0476-2. Epub 2016 Feb 26.


Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M.

Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10. No abstract available.


SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.

Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2.


Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.

Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.


High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.

Li X, Ménade M, Kozlov G, Hu Z, Dai Z, McPherson PS, Brais B, Gehring K.

PLoS One. 2015 Sep 14;10(9):e0137298. doi: 10.1371/journal.pone.0137298. eCollection 2015.


Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.


Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Noreau A, La Piana R, Marcoux C; FORGE Canada, Dion PA, Brais B, Bernard G, Rouleau GA.

Neurogenetics. 2015 Oct;16(4):315-8. doi: 10.1007/s10048-015-0455-z. Epub 2015 Aug 11.


Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

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 JR 3rd, Coulombe B, Bernard G.

Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.


Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B.

Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28.


A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.

Choquet K, La Piana R, Brais B.

Neurogenetics. 2015 Jul;16(3):233-6. doi: 10.1007/s10048-014-0436-7. Epub 2015 Jan 8.


The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: a pilot study.

Gagnon C, Lavoie C, Lessard I, Mathieu J, Brais B, Bouchard JP, Fluet MC, Gassert R, Lambercy O.

J Neurol Sci. 2014 Dec 15;347(1-2):341-4. doi: 10.1016/j.jns.2014.09.032. Epub 2014 Sep 28.


Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

La Piana R, Vanasse M, Brais B, Bernard G.

J Child Neurol. 2015 Sep;30(10):1371-4. doi: 10.1177/0883073814555189. Epub 2014 Nov 7.


Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.

La Piana R, Tran LT, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G.

Neuropediatrics. 2014 Dec;45(6):406-10. doi: 10.1055/s-0034-1393710. Epub 2014 Oct 24.


Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.

Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.


Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B.

Hum Mol Genet. 2015 Feb 1;24(3):727-39. doi: 10.1093/hmg/ddu491. Epub 2014 Sep 26.


Vanishing white matter disease in French-Canadian patients from Quebec.

Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G.

Pediatr Neurol. 2014 Aug;51(2):225-32. doi: 10.1016/j.pediatrneurol.2014.05.006. Epub 2014 May 14.


A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.

La Piana R, Webber A, Guiot MC, Del Pilar Cortes M, Brais B.

Neurogenetics. 2014 Oct;15(4):289-94. doi: 10.1007/s10048-014-0413-1. Epub 2014 Jul 12.


Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE Canada Consortium, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B.

Muscle Nerve. 2014 Nov;50(5):775-9. doi: 10.1002/mus.24224. Epub 2014 Sep 16.


Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I.

Isr Med Assoc J. 2013 Dec;15(12):748-52.


Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A.

J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7.


Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway.

Abu-Baker A, Laganiere J, Gaudet R, Rochefort D, Brais B, Neri C, Dion PA, Rouleau GA.

Cell Death Dis. 2013 Oct 3;4:e821. doi: 10.1038/cddis.2013.342.


Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Duquette A, Brais B, Bouchard JP, Mathieu J.

Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604. Epub 2013 Aug 2.


191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands.

Raz V, Butler-Browne G, van Engelen B, Brais B.

Neuromuscul Disord. 2013 Jun;23(6):516-23. doi: 10.1016/j.nmd.2013.03.001. Epub 2013 Apr 9. No abstract available.


Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G.

J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25.


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