Mihael Rogac

Ljubljana, Slovenia

Last Updated: 09/26/2026

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Found 10 publications

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.

Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.

Journal: Frontiers in neurology

Published: April 21, 2025

Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.

Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.

Journal: Neuropediatrics

Published: December 31, 2024

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Journal: American journal of human genetics

Published: September 23, 2023

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.

Journal: Frontiers in genetics

Published: February 24, 2023

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Journal: Balkan journal of medical genetics : BJMG

Published: October 17, 2022

Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?

Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?

Journal: Clinical dysmorphology

Published: February 24, 2017

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Journal: BMC genomics

Published: May 21, 2013

Regulation of lipid accumulation by AMP-activated kinase [corrected] in high fat diet-induced kidney injury.

Regulation of lipid accumulation by AMP-activated kinase [corrected] in high fat diet-induced kidney injury.

Journal: Kidney international

Published: February 05, 2013

Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model.

Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model.

Journal: PloS one

Published: October 29, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026