Biruté Burnyté

5PUBLICATIONS
20CO-AUTHORS
Metabolic medicineEarly English languagesEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (5)

|Jun 03, 2026
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

|Nov 29, 2024
Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family.

Domantas Valančius, Birutė Burnytė, Raminta Masaitienė

|Mar 26, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş

|Apr 14, 2023
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease.

Birute Burnyte, Ramune Vilimiene, Kristina Grigalioniene

|Sep 02, 2022
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.

Marlies Colman, Robin Vroman, Tibbe Dhooge

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Frequent Collaborators

1 joint publications

Marlies Colman

1 joint publications

Delfien Syx

1 joint publications

Kristina Grigalioniene

1 joint publications

Umut Altunoglu