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1994 1
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2004 2
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2010 3
2011 2
2012 3
2013 1
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2020 1
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Page 1
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. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: sylvain m. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Perrier S, Guerrero K, Tran LT, Michell-Robinson MA, Legault G, Brais B, Sylvain M, Dorman J, Demos M, Köhler W, Pastinen T, Thiffault I, Bernard G. Perrier S, et al. Among authors: sylvain m. Front Neurol. 2023 Apr 3;14:1148377. doi: 10.3389/fneur.2023.1148377. eCollection 2023. Front Neurol. 2023. PMID: 37077564 Free PMC article.
The EcoChip: A Wireless Multi-Sensor Platform for Comprehensive Environmental Monitoring.
Sylvain M, Lehoux F, Morency S, Faucher F, Bharucha E, Tremblay DM, Raymond F, Sarrazin D, Moineau S, Allard M, Corbeil J, Messaddeq Y, Gosselin B. Sylvain M, et al. IEEE Trans Biomed Circuits Syst. 2018 Dec;12(6):1289-1300. doi: 10.1109/TBCAS.2018.2878404. Epub 2018 Oct 31. IEEE Trans Biomed Circuits Syst. 2018. PMID: 30387742
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.
Dermer E, Spahr A, Tran LT, Mirchi A, Pelletier F, Guerrero K, Ahmed S, Brais B, Braverman N, Buhas D, Chandratre S, Chenier S, Chrestian N, Desmeules M, Dilenge ME, Laflamme J, Larbrisseau A, Legault G, Lim KY, Maftei C, Major P, Malvey-Dorn E, Marois P, Mitchell J, Nadeau A, Osterman B, Paradis I, Pohl D, Reggin J, Riou E, Roedde G, Rossignol E, Sébire G, Shevell M, Srour M, Sylvain M, Tarnopolsky M, Venkateswaran S, Sullivan M, Bernard G. Dermer E, et al. Among authors: sylvain m. J Child Neurol. 2020 Nov;35(13):901-907. doi: 10.1177/0883073820938645. Epub 2020 Jul 28. J Child Neurol. 2020. PMID: 32720856
35 results