Martin Delatycki

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Placais, Laure Teysset, Thomas Preat, Amelie Piton, Bassem A Hassan, Jean-Yves Roignant, Yuri Motorin, et al.

Journal article  |  2023  |  LIFE SCIENCE ALLIANCE

FTSJ1 is a conserved human 2'-O-methyltransferase (Nm-MTase) that modifies several tRNAs at position 32 and the wobble position 34..

Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia.

Rebecca Kerestes, Hannah Cummins, Nellie Georgiou-Karistianis, Louisa P Selvadurai, Louise A Corben, Martin B Delatycki, Gary F Egan, Ian H Harding

Journal article  |  2023  |  J Neurol

Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease characterised in most cases by progressive and debilitatin..

Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening.

Lucinda Freeman, Martin B Delatycki, Jackie Leach Scully, Nancy Briggs, Edwin P Kirk

Journal article  |  2023  |  Eur J Hum Genet

Genes associated with non-syndromic hearing loss (NSHL) are frequently included in panels for reproductive genetic carrier screeni..

Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening

Katrina LL Scarff, Nicola Flowers, Clare JJ Love, Alison DD Archibald, Clare EE Hunt, Olivia Giouzeppos, Justine Elliott, Martin BB Delatycki, Mark DD Pertile

Journal article  |  2023  |  PRENATAL DIAGNOSIS

OBJECTIVES: To evaluate the performance of cell-free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal proce..

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C Davies, Penny Snell, Liam G Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F Bennett, Jacob E Munro, Kathie J Ngo, Luke Chen, Mathew J Wallis, Ernest G Butler, Kishore R Kumar, Kathy Hc Wu, Susan E Tomlinson, Stephen Tisch, et al.

Journal article  |  2023  |  Am J Hum Genet

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular dia..

Response to Li and Sun.

Lucinda Freeman, Martin B Delatycki, Jackie Leach Scully, Edwin P Kirk

Journal article  |  2023  |  Genet Med

Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.

Thiago JR Rezende, Isaac M Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F Egan, Sophia L Göricke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M Joers, Christophe Lenglet, Tobias Lindig, Alberto RM Martinez, Andrea Martinuzzi, et al.

Journal article  |  2023  |  Mov Disord

BACKGROUND: Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its progression and clinical correlates remain unc..

Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.

Lucinda Freeman, Martin B Delatycki, Jackie Leach Scully, Edwin P Kirk

Journal article  |  2022  |  Prenat Diagn

OBJECTIVE: Reproductive genetic carrier screening (RGCS) panels often include genes associated with non-syndromic hearing loss (NS..

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS.

Christian Rummey, Ian H Harding, Martin B Delatycki, Geneieve Tai, Thiago Rezende, Louise A Corben

Journal article  |  2022  |  Ann Clin Transl Neurol

The ever-increasing body of ataxia research provides opportunities for large-scale meta-analyses, systematic reviews, and data agg..

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.

David R Lynch, Melanie P Chin, Sylvia Boesch, Martin B Delatycki, Paola Giunti, Angie Goldsberry, J Chad Hoyle, Caterina Mariotti, Katherine D Mathews, Wolfgang Nachbauer, Megan O'Grady, Susan Perlman, SH Subramony, George Wilmot, Theresa Zesiewicz, Colin J Meyer

Journal article  |  2022  |  Mov Disord

BACKGROUND: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a..