Publications by authors named "Dominik Natalia"

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PIGC-related encephalopathy: Lessons learned from 18 new probands.
Allan Bayat, Maria Carla Borroto, Smrithi Salian, Maha S Zaki, Hind Benkerroum, Natalia Dominik

Eur J Hum Genet· December 2025

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin

J Clin Invest· December 2025

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Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia.
M Leonor Bustamante, Marcelo Miranda, David Pellerin, Mariana Barreto, Claudia Silva, Natalia Dominik

Cerebellum· December 2025

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Biallelic variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Francesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, Dalila Moualek, Mariasavina Severino, Natalia Dominik

Brain Commun· October 2025

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Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Natalia Dominik

medRxiv· October 2025

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Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family.
Hayat Khan, Muhammad Ilyas, Hina Qasim, Humaira Zeb, Muhammad Israr, Natalia Dominik

Neurogenetics· August 2025

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Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.
Tomczuk Filip, Ziora-Jakutowicz Karolina, Dominik Natalia, Houlden Henry, Cortese Andrea

J Appl Genet· August 2025

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CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Alessandro Bertini, Stefano Facchini, Ilaria Quartesan, Riccardo Currò, Ricardo Parolin Schnekenberg, Natalia Dominik

J Neurol Neurosurg Psychiatry· July 2025

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Repeat expansions in gene in refractory chronic cough.
Barnaby Hirons, Peter S P Cho, Katie Rhatigan, Joe Shaw, Riccardo Curro, Natalia Dominik

ERJ Open Res· January 2025

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Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J Record, Lindsay A Wilson, Gustavo Maximiano Alves, Natalia Dominik

Brain Commun· November 2024

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Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
Franclo Henning, Kireshnee Naidu, Christopher J Record, Natalia Dominik, Jana Vandrovcova

Mov Disord Clin Pract· October 2024

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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya

EBioMedicine· October 2024

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Natalia Dominik

Nat Commun· October 2024

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The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Venugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Tanveer Ahmad, Natalia Dominik

Eur J Hum Genet· September 2024

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Natalia Dominik

Nat Commun· July 2024

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Pathologic repeat expansions do not contribute to the development of inflammatory neuropathies.
Sara Nagy, Aisling Carr, Magdalena Mroczek, Simon Rinaldi, Riccardo Curro, Natalia Dominik

Brain Commun· June 2024

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan

Brain· May 2024

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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Natalia Dominik

Brain· April 2024

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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Natalia Dominik

Mov Disord· January 2024

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Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Huihui Luo, Emil K Gustavsson, Hannah Macpherson, Natalia Dominik, Kristina Zhelcheska

Acta Neuropathol Commun· January 2024

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini

Brain· December 2023

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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Natalia Dominik

Brain· December 2023

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A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation.
Ikram Ullah, Muhammad Waqas, Muhammad Ilyas, Sobia Ahsan Halim, Akmal Ahmad, Natalia Dominik

Genes Dis· November 2023

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Optical Genome Mapping Enables Detection and Accurate Sizing of Repeat Expansions.
Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò

Biomolecules· October 2023

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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Stephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, Natalia Dominik, Benedetta Perrone

Biomolecules· October 2023

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