Publications by authors named "Brunhilde Wirth"

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Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Brett W Stringer, Yougang Zhang, Afsaneh Taghipour-Sheshdeh, Shuxiang Goh, Heike Kölbel, Brunhilde Wirth

EMBO Mol Med· December 2025

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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Benedikt Becker, Isabell Cordts, Jutta Becker, Rene Günther, Matthias Baumann, Christoph Neuwirth, Brunhilde Wirth

J Neuromuscul Dis· September 2025

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Oral function tests in spinal muscular atrophy: closing the diagnostic gap in severely affected adult patients : A prospective observational study.
Teresa Kruse, Sara Portegys, Diana Leflerovà, Annette Cap, Brunhilde Wirth

J Orofac Orthop· June 2025

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An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.
Caroline Dalgliesh, Saad Aldalaqan, Christian Atallah, Andrew Best, Emma Scott, Brunhilde Wirth

EMBO J· February 2025

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Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.
Teresa Kruse, Diana Leflerovà, Annette Cap, Sara Portegys, Brunhilde Wirth

Orphanet J Rare Dis· October 2024

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Functional Insights in PLS3-Mediated Osteogenic Regulation.
Wenchao Zhong, Janine Neugebauer, Janak L Pathak, Xingyang Li, Gerard Pals, Brunhilde Wirth

Cells· September 2024

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Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.
Tobias Grass, Zeynep Dokuzluoglu, Felix Buchner, Ines Rosignol, Joshua Thomas, Brunhilde Wirth

Cell Rep Med· August 2024

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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Brunhilde Wirth

Genet Med· June 2024

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Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy.
Rachel James, Kiterie M E Faller, Ewout J N Groen, Brunhilde Wirth, Thomas H Gillingwater

Commun Med (Lond)· May 2024

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CLUH maintains functional mitochondria and translation in motoneuronal axons and prevents peripheral neuropathy.
Marta Zaninello, Tim Schlegel, Hendrik Nolte, Mujeeb Pirzada, Elisa Savino, Brunhilde Wirth

Sci Adv· May 2024

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270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Emanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, Francesco Danilo Tiziano, Eduardo F Tizzano, Brunhilde Wirth

Neuromuscul Disord· January 2024

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Osteoclast-specific Plastin 3 knockout in mice fail to develop osteoporosis despite dramatic increased osteoclast resorption activity.
Ilka Maus, Maren Dreiner, Sebastian Zetzsche, Fabian Metzen, Bryony C Ross, Brunhilde Wirth

JBMR Plus· January 2024

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SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Tyler R Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Anixa Muiños-Bühl, Eric N Anderson, Brunhilde Wirth

Acta Neuropathol· September 2023

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Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.
Nur Cengiz Winter, Mert Karakaya, Peter Mosen, Isabell Brusius, Banu Anlar, Brunhilde Wirth

J Proteome Res· September 2023

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Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Eike A Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Brunhilde Wirth

Am J Hum Genet· March 2023

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Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Biljana Ermanoska, Bob Asselbergh, Laura Morant, Maria-Luise Petrovic-Erfurth, Seyyedmohsen Hosseinibarkooie, Brunhilde Wirth

Nat Commun· March 2023

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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Brunhilde Wirth

Brain· February 2023

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Long-Term - and -ASO Combinatorial Therapy in SMA Mice and -ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.
Anixa Muiños-Bühl, Roman Rombo, Karen K Ling, Eleonora Zilio, Frank Rigo, Brunhilde Wirth

Int J Mol Sci· February 2023

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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth

J Neuromuscul Dis· January 2023

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S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases.
Sofia Vrettou, Brunhilde Wirth

Int J Mol Sci· December 2022

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TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Lu Chen, Caitlin M Roake, Paolo Maccallini, Francesca Bavasso, Roozbeh Dehghannasiri, Brunhilde Wirth

Nucleic Acids Res· November 2022

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Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.
Melina Overhoff, Frederik Tellkamp, Simon Hess, Marianna Tolve, Janine Tutas, Brunhilde Wirth

EMBO J· November 2022

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CAPRIN1 causes aberrant protein aggregation and associates with early-onset ataxia.
Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Brunhilde Wirth

Cell Mol Life Sci· September 2022

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Mitochondrial Dysfunction in Spinal Muscular Atrophy.
Eleonora Zilio, Valentina Piano, Brunhilde Wirth

Int J Mol Sci· September 2022

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The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap.
Sharon J Brown, Rachel A Kline, Silvia A Synowsky, Sally L Shirran, Ian Holt, Brunhilde Wirth

Cells· August 2022

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