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Thomas Musacchio

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Articles 20
Citations 336
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Recent Articles
1.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, et al.
Brain . 2025 Feb; PMID: 39937650
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not...
2.
McFleder R, Musacchio T, Keller J, Knorr S, Petschner T, Chen J, et al.
Brain Behav Immun . 2024 Oct; 123:851-862. PMID: 39481497
Immune dysregulation in the brain and periphery is thought to contribute to the detrimental neurodegeneration that occurs in Parkinson's disease (PD). Identifying mechanisms to reverse this dysregulation is key to...
3.
Goerttler T, Dorner M, van der Linden C, Kienitz R, Petrik S, Blechinger S, et al.
Neurol Res Pract . 2024 Oct; 6(1):52. PMID: 39472968
Background: Intragastric botulinum neurotoxin injections (IBNI) are offered off-label in the private medical sector in a few European countries as a safe and effective weight-loss measure. In February and March...
4.
Westenberger A, Skrahina V, Usnich T, Beetz C, Vollstedt E, Laabs B, et al.
Brain . 2024 Aug; 147(8):2652-2667. PMID: 39087914
Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has...
5.
Graessner H, Reinhard C, Baumer T, Baumgartner A, Brockmann K, Bruggemann N, et al.
Orphanet J Rare Dis . 2024 Feb; 19(1):62. PMID: 38347616
Background: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients...
6.
Binder T, Lange F, Pozzi N, Musacchio T, Daniels C, Odorfer T, et al.
Brain Stimul . 2023 Aug; 16(5):1243-1251. PMID: 37619891
Background: Subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment for advanced Parkinson's disease (PD). Clinical outcomes after DBS can be limited by poor programming, which remains a clinically...
7.
Lange F, Soares C, Roothans J, Raimundo R, Eldebakey H, Weigl B, et al.
Brain Stimul . 2023 Jul; 16(4):1105-1111. PMID: 37422109
Background: Deep brain stimulation of the internal globus pallidus effectively alleviates dystonia motor symptoms. However, delayed symptom control and a lack of therapeutic biomarkers and a single pallidal sweetspot region...
8.
Fanciulli A, Leys F, Lehner F, Sidoroff V, Ruf V, Raccagni C, et al.
Brain Commun . 2022 Jul; 4(4):fcac175. PMID: 35855480
Multiple system atrophy is considered a sporadic disease, but neuropathologically confirmed cases with a family history of parkinsonism have been occasionally described. Here we report a North-Bavarian (colloquially, Lion's tail...
9.
Musacchio T, Yin J, Kremer F, Koprich J, Brotchie J, Volkmann J, et al.
Behav Brain Res . 2022 Jun; 432:113968. PMID: 35738338
Degeneration of the nigrostriatal tract is a neuropathological hallmark of Parkinson's disease (PD). A differential intraneuronal vulnerability of dopaminergic neurons within the substantia nigra (SN) has been suggested, starting as...
10.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, et al.
BMC Neurol . 2022 Mar; 22(1):93. PMID: 35291973
Background: Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is...