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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 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, 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.

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:

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.

Article de revue

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.

Article de revue

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

Article de revue

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

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