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Page 1
Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022.
Front Genet. 2022.
PMID: 35222531
Free PMC article.
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.
Pal M, Lace B, Labrie Y, Laflamme N, Rioux N, Setty ST, Dugas MA, Gosselin L, Droit A, Chrestian N, Rivest S.
Pal M, et al. Among authors: rioux n.
JIMD Rep. 2021 Feb 23;59(1):32-41. doi: 10.1002/jmd2.12196. eCollection 2021 May.
JIMD Rep. 2021.
PMID: 33977028
Free PMC article.
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A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.
Laflamme N, Lace B, Thonta Setty S, Rioux N, Labrie Y, Droit A, Chrestian N, Rivest S.
Laflamme N, et al. Among authors: rioux n.
Front Neurol. 2021 Jun 15;12:660113. doi: 10.3389/fneur.2021.660113. eCollection 2021.
Front Neurol. 2021.
PMID: 34211429
Free PMC article.
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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
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; Care4Rare Canada Consortium; Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM.
Lemire G, et al. Among authors: rioux n.
Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28.
Am J Hum Genet. 2021.
PMID: 34587489
Free PMC article.
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