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Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related

Article de revue

Hum Mutat, 2022.

Résumé | Liens:

Lace B, Micule I, Micule I, Kenina V, Setlere S, Strautmanis J, Kazaine I, Taurina G, Murmane D, Grinfelde I, Kornejeva L, Krumina Z, Sterna PO, Radovica Spalvina I, Vasilijeva I, Gailite L, Livcane D, Kidere D, Malniece I, Inashkina I

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

Article de revue

Neurol Genet, 8 (3), 2022.

| Liens:

Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I

Case Report: Two Families With HPDL Related Neurodegeneration

Article de revue

Front Genet, 13 , 2022.

Résumé | Liens:

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

Article de revue

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 PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy

Article de revue

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, Kühn 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

Article de revue

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

Article de revue

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

Article de revue

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

Article de revue

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

Article de revue

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

Résumé | Liens:

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