Brunhilde Wirth
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Explore the profile of Brunhilde Wirth including associated specialties, affiliations and a list of published articles.
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Articles
140
Citations
4962
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Recent Articles
1.
Dalgliesh C, Aldalaqan S, Atallah C, Best A, Scott E, Ehrmann I, et al.
EMBO J
. 2025 Jan;
44(3):877-902.
PMID: 39748121
The cellular concentrations of splicing factors (SFs) are critical for controlling alternative splicing. Most serine and arginine-enriched (SR) protein SFs regulate their own concentration via a homeostatic feedback mechanism that...
2.
Kruse T, Leflerova D, Cap A, Portegys S, Wirth B, Heller R, et al.
Orphanet J Rare Dis
. 2024 Oct;
19(1):382.
PMID: 39407277
Background: Oral function tests have been shown to reliably detect impaired bulbar function in adults with spinal muscular atrophy (SMA). Although not routinely recorded, it is known that persons with...
3.
Zhong W, Neugebauer J, Pathak J, Li X, Pals G, Zillikens M, et al.
Cells
. 2024 Sep;
13(17.
PMID: 39273077
Plastin-3 (PLS3) encodes T-plastin, an actin-bundling protein mediating the formation of actin filaments by which numerous cellular processes are regulated. Loss-of-function genetic defects in PLS3 are reported to cause X-linked...
4.
Grass T, Dokuzluoglu Z, Buchner F, Rosignol I, Thomas J, Caldarelli A, et al.
Cell Rep Med
. 2024 Jul;
5(8):101659.
PMID: 39067446
Whether neurodevelopmental defects underlie postnatal neuronal death in neurodegeneration is an intriguing hypothesis only recently explored. Here, we focus on spinal muscular atrophy (SMA), a neuromuscular disorder caused by reduced...
5.
Zaninello M, Schlegel T, Nolte H, Pirzada M, Savino E, Barth E, et al.
Sci Adv
. 2024 May;
10(22):eadn2050.
PMID: 38809982
Transporting and translating mRNAs in axons is crucial for neuronal viability. Local synthesis of nuclear-encoded mitochondrial proteins protects long-lived axonal mitochondria from damage; however, the regulatory factors involved are largely...
6.
James R, Faller K, Groen E, Wirth B, Gillingwater T
Commun Med (Lond)
. 2024 May;
4(1):86.
PMID: 38750213
Background: Spinal muscular atrophy (SMA) is an autosomal recessive childhood-onset neuromuscular disease with a carrier frequency of ~1:50. Mitochondrial abnormalities are widespread in patients with SMA. Disease carriers for SMA...
7.
Maus I, Dreiner M, Zetzsche S, Metzen F, Ross B, Mahlich D, et al.
JBMR Plus
. 2024 Mar;
8(1):ziad009.
PMID: 38549711
loss-of-function mutations in humans and mice cause X-linked primary osteoporosis. However, it remains largely unknown how mutations cause osteoporosis and which function PLS3 plays in bone homeostasis. A recent study...
8.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro A, Atkinson D, et al.
Genet Med
. 2024 Mar;
26(6):101117.
PMID: 38459834
Purpose: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly...
9.
Bertini E, Tizzano E, Abiusi E, Baranello G, Bertini E, Boemer F, et al.
Neuromuscul Disord
. 2024 Jan;
34:114-122.
PMID: 38183850
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians....
10.
Cengiz Winter N, Karakaya M, Mosen P, Brusius I, Anlar B, Haliloglu G, et al.
J Proteome Res
. 2023 Aug;
22(9):3081-3095.
PMID: 37585105
In a currently 13-year-old girl of consanguineous Turkish parents, who developed unsteady gait and polyneuropathy at the ages of 3 and 6 years, respectively, we performed whole genome sequencing and...