Marina Konyukh - Publications

Evaluation of the yield index of genetic counselling for first-degree relatives of patients with hereditary transthyretin cardiac amyloidosis.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: May 15, 2026

COQ7-Related Neuropathy: Two New Cases and Review of the Literature.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 02, 2026

A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.

Journal: Neuromuscular disorders : NMD

Published: February 23, 2026

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

Journal: Journal of the peripheral nervous system : JPNS

Published: January 15, 2026

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Journal: Neurology. Genetics

Published: December 16, 2025

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Journal: Clinical genetics

Published: October 31, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.

Journal: HGG advances

Published: April 14, 2025

D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.

Journal: The European respiratory journal

Published: April 11, 2025

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.

Journal: Respirology (Carlton, Vic.)

Published: September 12, 2024

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 18, 2024