Selected Publications

Note: Underscore denotes students/trainees

2024

Piscopo VEC, Chapleau A, Blaszczyk GJ, Sirois J, You Z, Soubannier V, Chen CX, Bernard G, Antel JP, Durcan TM. The use of a SOX10 reporter toward ameliorating oligodendrocyte lineage differentiation from human induced pluripotent stem cells. Glia. 2024 Jun;72(6):1165-1182. doi: 10.1002/glia.24524. Epub 2024 Mar 18. PubMed PMID: 38497409.

2023

Michell-Robinson MA, Watt KEN, Grouza V, Macintosh J, Pinard M, Tuznik M, Chen X, Darbelli L, Wu CL, Perrier S, Chitsaz D, Uccelli NA, Liu H, Cox TC, Müller CW, Kennedy TE, Coulombe B, Rudko DA, Trainor PA, Bernard G. Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy. Brain. 2023 Dec 1;146(12):5070-5085. doi: 10.1093/brain/awad249. PubMed PMID: 37635302; PubMed Central PMCID: PMC10690025.

Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G. Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease. Pediatr Neurol. 2023 Nov;148:133-137. doi: 10.1016/j.pediatrneurol.2023.08.013. Epub 2023 Aug 19. PubMed PMID: 37713976.

Macintosh J, Perrier S, Pinard M, Tran LT, Guerrero K, Prasad C, Prasad AN, Pastinen T, Thiffault I, Coulombe B, Bernard G. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol. 2023;14:1254140. doi: 10.3389/fneur.2023.1254140. eCollection 2023. PubMed PMID: 37915380; PubMed Central PMCID: PMC10616956.

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. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. PubMed PMID: 37197783; PubMed Central PMCID: PMC10579516.

Yazdani PA, St-Jean ML, Matovic S, Spahr A, Tran LT, Boucher RM, Poulin C, Osterman B, Srour M, Rosenblatt B, Chénier S, Soucy JF, Laberge AM, D'Agostino MD, Nguyen CE, Morsa M, Bernard G. The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study. J Child Neurol. 2023 Apr;38(5):329-335. doi: 10.1177/08830738231176672. Epub 2023 May 24. PubMed PMID: 37225698; PubMed Central PMCID: PMC10338692.

Macintosh J, Michell-Robinson M, Chen X, Bernard G. Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development. Front Neurosci. 2023;17:1167047. doi: 10.3389/fnins.2023.1167047. eCollection 2023. PubMed PMID: 37179550; PubMed Central PMCID: PMC10167296.

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. Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing. Front Neurol. 2023;14:1148377. doi: 10.3389/fneur.2023.1148377. eCollection 2023. PubMed PMID: 37077564; PubMed Central PMCID: PMC10108901.

Watt KE, Macintosh J, Bernard G, Trainor PA. RNA Polymerases I and III in development and disease. Semin Cell Dev Biol. 2023 Feb 28;136:49-63. doi: 10.1016/j.semcdb.2022.03.027. Epub 2022 Apr 11. Review. PubMed PMID: 35422389; PubMed Central PMCID: PMC9550887.

Macintosh J, Michell-Robinson MA, Chen X, Chitsaz D, Kennedy TE, Bernard G. An optimized and validated protocol for the purification of PDGFRα+ oligodendrocyte precursor cells from mouse brain tissue via immunopanning. MethodsX. 2023;10:102051. doi: 10.1016/j.mex.2023.102051. eCollection 2023. PubMed PMID: 36814689; PubMed Central PMCID: PMC9939712.

2022

Amir Yazdani P, St-Jean ML, Matovic S, Spahr A, Tran LT, Boucher RM, Poulin C, Osterman B, Srour M, Rosenblatt B, Chenier S, Soucy JF, Laberge AM, Braverman N, D'Agostino MD, Nguyen CE, Morsa M, Bernard G. Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic. J Child Neurol. 2022 Mar;37(4):237-245. doi: 10.1177/08830738211065317. Epub 2022 Jan 5. PubMed PMID: 34986037; PubMed Central PMCID: PMC9066235.

2021

Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28. PubMed PMID: 34587489; PubMed Central PMCID: PMC8546048.

Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. RNA Polymerase III Subunit Mutations in Genetic Diseases. Front Mol Biosci. 2021;8:696438. doi: 10.3389/fmolb.2021.696438. eCollection 2021. Review. PubMed PMID: 34395528; PubMed Central PMCID: PMC8362101.

Spahr A, Rosli Z, Legault M, Tran LT, Fournier S, Toutounchi H, Darbelli L, Madjar C, Lucia C, St-Jean ML, Das S, Evans AC, Bernard G. The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness. Orphanet J Rare Dis. 2021 Jul 23;16(1):328. doi: 10.1186/s13023-021-01953-8. PubMed PMID: 34301277; PubMed Central PMCID: PMC8299589.

Derksen A, Shih HY, Forget D, Darbelli L, Tran LT, Poitras C, Guerrero K, Tharun S, Alkuraya FS, Kurdi WI, Nguyen CE, Laberge AM, Si Y, Gauthier MS, Bonkowsky JL, Coulombe B, Bernard G. Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease. HGG Adv. 2021 Jul 8;2(3):100034. doi: 10.1016/j.xhgg.2021.100034. eCollection 2021 Jul 8. PubMed PMID: 35047835; PubMed Central PMCID: PMC8756503.

Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. PubMed PMID: 33005949; PubMed Central PMCID: PMC7823228.

2020

Perrier S, Michell-Robinson MA, Bernard G. POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches. Front Cell Neurosci. 2020;14:631802. doi: 10.3389/fncel.2020.631802. eCollection 2020. PubMed PMID: 33633543; PubMed Central PMCID: PMC7902007

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. Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study. J Child Neurol. 2020 Nov;35(13):901-907. doi: 10.1177/0883073820938645. Epub 2020 Jul 28. PubMed PMID: 32720856.

Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9. PubMed PMID: 32342562; PubMed Central PMCID: PMC8061316.

Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020 Jun;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. PubMed PMID: 32582862; PubMed Central PMCID: PMC7238899.

2019

Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C, Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. Neurol Genet. 2019 Dec;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. PubMed PMID: 32042905; PubMed Central PMCID: PMC6927361.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3. PubMed PMID: 30755602; PubMed Central PMCID: PMC6372641.

Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G. Dystonia in RNA Polymerase III-Related Leukodystrophy. Mov Disord Clin Pract. 2019 Feb;6(2):155-159. doi: 10.1002/mdc3.12715. eCollection 2019 Feb. PubMed PMID: 30838315; PubMed Central PMCID: PMC6384176.

2018

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy. Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9. PubMed PMID: 29859719.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22. PubMed PMID: 29576217; PubMed Central PMCID: PMC5985283.

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. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. PubMed PMID: 29228109; PubMed Central PMCID: PMC5837469.

2017

Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. PubMed PMID: 28863857; PubMed Central PMCID: PMC8018711.

Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI. 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1. PubMed PMID: 28561206.

2016

La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30. PubMed PMID: 27029625; PubMed Central PMCID: PMC4844237.

2015

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. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. PubMed PMID: 26151409; PubMed Central PMCID: PMC4506509.

Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis. 2015 Jun 5;10:69. doi: 10.1186/s13023-015-0279-9. PubMed PMID: 26045207; PubMed Central PMCID: PMC4520020.

Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8. PubMed PMID: 26011300.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Review. PubMed PMID: 25655951; PubMed Central PMCID: PMC4390485.

2014

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. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. PubMed PMID: 25339210; PubMed Central PMCID: PMC4248461.

Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Vanishing white matter disease in French-Canadian patients from Quebec. Pediatr Neurol. 2014 Aug;51(2):225-32. doi: 10.1016/j.pediatrneurol.2014.05.006. Epub 2014 May 14. PubMed PMID: 25079571.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7. PubMed PMID: 24105487.

2013

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. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25. PubMed PMID: 23355746.

2012

Osterman B, Sylvain M, Chouinard S, Bernard G. Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature. Mov Disord. 2012 Dec;27(14):1829-30. doi: 10.1002/mds.25270. Epub 2012 Dec 3. PubMed PMID: 23208740; PubMed Central PMCID: PMC4471618.

La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol. 2012 Jun;69(6):765-68. doi: 10.1001/archneurol.2011.1942. PubMed PMID: 22312164; PubMed Central PMCID: PMC4154510.

2011

Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89(5):652-5. doi: 10.1016/j.ajhg.2011.10.006. Epub 2011 Oct 27. PubMed PMID: 22036172; PubMed Central PMCID: PMC3213403.

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. PubMed PMID: 21855841; PubMed Central PMCID: PMC3169829.

2010

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17. PubMed PMID: 20640464; PubMed Central PMCID: PMC4147760.