Birute Burnyte

M. K. Ciurlionio St. 21
Vilnius, VL 03101, Lithuania

Last Updated: 09/26/2026

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Found 47 publications

Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study.

Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study.

Journal: Neurogenetics

Published: March 15, 2026

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Spectrum of genetic variants detected in children tested for long QT syndrome.

Spectrum of genetic variants detected in children tested for long QT syndrome.

Journal: BMC cardiovascular disorders

Published: June 13, 2025

Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.

Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.

Journal: Journal of cardiovascular development and disease

Published: March 31, 2025

Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family.

Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family.

Journal: Neurology. Genetics

Published: June 21, 2024

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Journal: Cell

Published: June 13, 2024

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.

Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.

Journal: Cells

Published: January 22, 2024

Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks.

Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks.

Journal: Frontiers in neurology

Published: December 22, 2023

Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review.

Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review.

Journal: Frontiers in neurology

Published: September 08, 2023

Showing 1-12 of 47

Last Updated: 09/26/2026