Baiba Lace

Laflamme N, Lace B, Thonta Setty S, Rioux N, Labrie Y, Droit A, Chrestian N, Rivest S

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.

Front Neurol, 12 , 2021.

Résumé | Liens:

Pal M, Lace B, Labrie Y, Laflamme N, Rioux N, Setty ST, Dugas MA, Gosselin L, Droit A, Chrestian N, Rivest S

A founder mutation in the gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

JIMD Rep, 59 (1), 2021.

Résumé | Liens:

Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kuhn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.

Ann Neurol, 89 (3), 2021.

Résumé | Liens:

Picher-Martel V, Labrie Y, Rivest S, Lace B, Chrestian N

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

BMC Neurol, 20 (1), 2020.

Résumé | Liens:

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coeslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Eur J Hum Genet, 28 (10), 2020.

Résumé | Liens:

Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panades-de Oliveira L, Dominguez-Gonzalez C, Inashkina I, Kidere D, Chrestian N, Lace B

Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.

Neuromuscul Disord, 30 (6), 2020.

Résumé | Liens:

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Levesque S, Maranda B

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.

Mol Genet Genomic Med, 7 (12), 2019.

Résumé | Liens:

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Am J Hum Genet, 105 (2), 2019.

Résumé | Liens:

Stavusis J, Lace B, Schafer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Bonnemann CG, Kontrogianni-Konstantopoulos A

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Ann Neurol, 86 (1), 2019.

Résumé | Liens:

Krumina A, Pliss L, Zarina G, Puzuka A, Zarina A, Lace B, Elferts D, Khrunin A, Limborska S, Klovins J, Gailite L

Population genetics of Latvians in the context of admixture between north-eastern European ethnic groups

Proc Latv Acad Sci B Nat Exact Appl Sci, 72 (3), 2018.

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