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Publications scientifiques

  • article Perrier S, Gauquelin L, Bernard G

    Inherited white matter disorders: Hypomyelination (myelin disorders)

    Handb Clin Neurol 204 2024.

    DOI PUBMED
  • article Perrier S, Gauquelin L, Wambach JA, Bernard G

    Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

    Am J Med Genet A 188 (2), 2022.

    DOI PUBMED
  • article Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G

    Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

    Neurology 94 (14), 2020.

    DOI PUBMED
  • article 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 6 (3), 2020.

    DOI PUBMED
  • article Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, Boycott KM, Yoon G

    Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

    Mov Disord Clin Pract 7 (8), 2020.

    DOI PUBMED
  • article Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE and and Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE

    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Acta Neuropathol 138 (6), 2019.

    DOI PUBMED
  • chapitre Bernard G, Gauquelin L, Andermann F

    Ring Chromosome 20

    In: Trinka E and Guerrini R and Shorvon S and Schachter S (ed.): (The causes of epilepsy : diagnosis and investigation), p. 435-438, p. 2019, ISBN: 9781108420754, .

    DOI
  • article 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 and and 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 5 (6), 2019.

    DOI PUBMED
  • article Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C and and Vanderver A, Bernard G

    Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

    Clin Genet 93 (2), 2018.

    DOI PUBMED
  • article 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 102 (4), 2018.

    DOI PUBMED
  • article Sahly A, Gauquelin L, Sébire G

    Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin

    Child Neurol Open 4 2017.

    DOI PUBMED
  • article Gauquelin L, Tran LT, Chouinard S, Bernard G

    The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate

    Tremor Other Hyperkinet Mov (N Y) 7 2017.

    DOI PUBMED