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31 enregistrements « 1 de 4 »

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), p. 384-394, 2019, ISSN: 0002-9297.

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, Kontrogianni-Konstantopoulos A, Bonnemann CG

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

Article de revue

Ann Neurol, 86 (1), p. 129-142, 2019, ISSN: 0364-5134.

Résumé | Liens:

Puisac B, Marcos-Alcalde I, Hernandez-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gomez-Puertas P, Pie J

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Article de revue

Int J Mol Sci, 19 (4), 2018.

Résumé | Liens:

Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.

Article de revue

Mitochondrial DNA A DNA Mapp Seq Anal, 29 (7), p. 1115-1120, 2018, ISSN: 2470-1394.

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), p. 131-151, 2018, ISSN: 1407-009X.

| Liens:

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Article de revue

Sci Rep, 7 (1), p. 7512, 2017, ISSN: 2045-2322.

Résumé | Liens:

Kreile M, Piekuse L, Rots D, Dobele Z, Kovalova Z, Lace B

Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population.

Article de revue

Arch Med Sci, 12 (3), p. 479-85, 2016, ISSN: 1734-1922.

Résumé | Liens:

Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Article de revue

BMC Musculoskelet Disord, 17 , p. 200, 2016.

Résumé | Liens:

Mangold E, Bohmer AC, Ishorst N, Hoebel AK, Gultepe P, Schuenke H, Klamt J, Hofmann A, Golz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jager A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nothen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

Article de revue

Am J Hum Genet, 98 (4), p. 755-62, 2016, ISSN: 0002-9297.

Résumé | Liens:

Stavusis J, Inashkina I, Lace B, Pelnena D, Limborska S, Khrunin A, Kucinskas V, Krumina A, Piekuse L, Zorn B, Fodina V, Punab M, Erenpreiss J

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.

Article de revue

Hum Hered, 82 (3-4), p. 140-146, 2016, ISSN: 0001-5652.

Résumé | Liens:

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