Research Output per year
Research Output per year
- 1 - 50 out of 66 results
Search results
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2024
A Pathogenic Variant in Rab32 Causes Autosomal Dominant Parkinsons Disease and Activates LRRK2 Kinase
Gustavsson, E. K., Stoessl, A. J., Rajput, A., Rajput, A. H., Auer, R., Tilney, R., Sturm, M., Haack, T. B., Lesage, S., Tesson, C., Brice, A., Follett, J., Vilarino-Guell, C., Ryten, M., Goldberg, M. S., West, A. B., Hu, M. T., Morris, H. R., Sharma, M. & Gan-Or, Z. & 17 others, , 2024, (THELANCETNEUROLOGY-D-24-00013).Research output: Working Papers › Preprint
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LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
Pozojevic, J., Sivaprasad, R., Laß, J., Haarich, F., Trinh, J., Kakar, N., Schulz, K., Händler, K., Verrijn Stuart, A. A., Giltay, J. C., van Gassen, K. L., Caliebe, A., Holterhus, P. M., Spielmann, M. & Hornig, N. C., 15.07.2024, In: Scientific Reports. 14, 1, p. 16302 16302.Research output: Journal Articles › Journal articles › Research › peer-review
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Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism
Laß, J., Lüth, T., Schlüter, K., Schaake, S., Laabs, B.-H., Much, C., Jamora, R. D., Rosales, R. L., Saranza, G., Diesta, C. C. E., Pearson, C. E., König, I. R., Brüggemann, N., Klein, C., Westenberger, A. & Trinh, J., 07.2024, In: Movement disorders : official journal of the Movement Disorder Society. 39, 7, p. 1145-1153 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
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2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters
Gabbert, C., Schaake, S., Lüth, T., Much, C., Klein, C., Aasly, J. O., Farrer, M. J. & Trinh, J., 13.06.2023, In: BMC Genomics. 24, 1, p. 322Research output: Journal Articles › Journal articles › Research › peer-review
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Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10
International Parkinson Disease Genomics Consortium, 29.06.2023, In: NPJ Parkinson's disease. 9, 1, p. 102Research output: Journal Articles › Journal articles › Research › peer-review
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Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review
Olszewska, D. A., Shetty, A., Rajalingam, R., Rodriguez-Antiguedad, J., Hamed, M., Huang, J., Breza, M., Rasheed, A., Bahr, N., Madoev, H., Westenberger, A., Trinh, J., Lohmann, K., Klein, C., Marras, C. & Waln, O., 10.2023, In: European Journal of Neurology. 30, 10, p. 3377-3393 17 p.Research output: Journal Articles › Scientific review articles › Research
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Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism
Lüth, T., Gabbert, C., Koch, S., König, I. R., Caliebe, A., Laabs, B.-H., Hentati, F., Sassi, S. B., Amouri, R., Spielmann, M., Klein, C., Grünewald, A., Farrer, M. J. & Trinh, J., 10.2023, In: Movement disorders : official journal of the Movement Disorder Society. 38, 10, p. 1837-1849 13 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Lifestyle factors and clinical severity of Parkinson's disease
Gabbert, C., König, I. R., Lüth, T., Kasten, M., Grünewald, A., Klein, C. & Trinh, J., 12.06.2023, In: Scientific Reports. 13, 1, p. 9537Research output: Journal Articles › Journal articles › Research › peer-review
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Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease
Trinh, J., Hicks, A. A., König, I. R., Delcambre, S., Lüth, T., Schaake, S., Wasner, K., Ghelfi, J., Borsche, M., Vilariño-Güell, C., Hentati, F., Germer, E. L., Bauer, P., Takanashi, M., Kostić, V., Lang, A. E., Brüggemann, N., Pramstaller, P. P., Pichler, I. & Rajput, A. & 7 others, , 03.07.2023, In: Brain : a journal of neurology. 146, 7, p. 2753-2765 13 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Baalmann, N., Spielmann, M., Gillessen- Kaesbach, G., Hanker, B., Schmidt, J., Lill, C. M., Hellenbroich, Y., Greiten, B., Lohmann, K., Trinh, J. & Hüning, I., 07.2023, In: European Journal of Medical Genetics. 66, 7, p. 104774 104774.Research output: Journal Articles › Journal articles › Research › peer-review
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Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
Saffie Awad, P., Lohmann, K., Hirmas, Y., Hinrichs, F., Thomsen, M., Kauffman, M., Lüth, T., Trinh, J., Westenberger, A., Chaná-Cuevas, P. & Klein, C., 06.2023, In: Movement disorders : official journal of the Movement Disorder Society. 38, 6, p. 1107-1109 3 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Special Issue "Parkinson's Disease: Genetics and Pathogenesis"
Lesage, S. & Trinh, J., 17.03.2023, In: Genes. 14, 3Research output: Journal Articles › Journal articles › Research
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The combined effect of lifestyle factors and polygenic scores on age at onset in Parkinson's disease
Gabbert, C., Blöbaum, L., Lüth, T., König, I. R., Caliebe, A., Koch, S., Björn-Hergen, L., Klein, C. & Trinh, J., 25.08.2023, In: medRxiv : the preprint server for health sciences.Research output: Journal Articles › Journal articles › Research
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2022
Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA
Lüth, T., Schaake, S., Grünewald, A., May, P., Trinh, J. & Weissensteiner, H., 2022, In: Frontiers in Genetics. 13, p. 887644Research output: Journal Articles › Journal articles › Research › peer-review
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Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson's disease
Gabbert, C., König, I. R., Lüth, T., Kolms, B., Kasten, M., Vollstedt, E.-J., Balck, A., Grünewald, A., Klein, C. & Trinh, J., 08.2022, In: Journal of Neurology. 269, 8, p. 4195-4203 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing
Lüth, T., Laβ, J., Schaake, S., Wohlers, I., Pozojevic, J., Jamora, R. D. G., Rosales, R. L., Brüggemann, N., Saranza, G., Diesta, C. C. E., Schlüter, K., Tse, R., Reyes, C. J., Brand, M., Busch, H., Klein, C., Westenberger, A. & Trinh, J., 11.01.2022, In: Genes. 13, 1, 126.Research output: Journal Articles › Journal articles › Research › peer-review
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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
Rosenbohm, A., Pott, H., Thomsen, M., Rafehi, H., Kaya, S., Szymczak, S., Volk, A. E., Mueller, K., Silveira, I., Weishaupt, J. H., Tönnies, H., Seibler, P., Zschiedrich, K., Schaake, S., Westenberger, A., Zühlke, C., Depienne, C., Trinh, J., Ludolph, A. C. & Klein, C. & 2 others, , 2022, In: Movement disorders : official journal of the Movement Disorder Society. 37, 12, p. 2427-2439 13 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing
Lüth, T., Graspeuntner, S., Neumann, K., Kirchhoff, L., Masuch, A., Schaake, S., Lupatsii, M., Tse, R., Griesinger, G., Trinh, J. & Rupp, J., 11.2022, In: Journal of Assisted Reproduction and Genetics. 39, 11, p. 2659-2667 9 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Molecular mechanisms defining penetrance of LRRK2-associated Parkinson's disease
Trinh, J., Schymanski, E. L., Smajic, S., Kasten, M., Sammler, E. & Grünewald, A., 01.2022, In: Medizinische Genetik. 34, 2, p. 103-116 14 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
Trinh, J., Lüth, T., Schaake, S., Laabs, B.-H., Schlüter, K., Laβ, J., Pozojevic, J., Tse, R., König, I., Dominic Jamora, R., Rosales, R. L., Brüggemann, N., Saranza, G., Diesta, C. C. E., Kaiser, F. J., Depienne, C., Pearson, C. E., Westenberger, A. & Klein, C., 27.04.2022, In: Brain : a journal of neurology.Research output: Journal Articles › Journal articles › Research › peer-review
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Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation
Wasner, K., Smajic, S., Ghelfi, J., Delcambre, S., Prada-Medina, C. A., Knappe, E., Arena, G., Mulica, P., Agyeah, G., Rakovic, A., Boussaad, I., Badanjak, K., Ohnmacht, J., Gérardy, J.-J., Takanashi, M., Trinh, J., Mittelbronn, M., Hattori, N., Klein, C. & Antony, P. & 4 others, , 07.2022, In: Movement disorders : official journal of the Movement Disorder Society. 37, 7, p. 1405-1415 11 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon
Pozojevic, J., Algodon, S. M., Cruz, J. N., Trinh, J., Brüggemann, N., Laß, J., Grütz, K., Schaake, S., Tse, R., Yumiceba, V., Kruse, N., Schulz, K., Sreenivasan, V. K. A., Rosales, R. L., Jamora, R. D. G., Diesta, C. C. E., Matschke, J., Glatzel, M., Seibler, P. & Händler, K. & 6 others, , 17.02.2022, In: International Journal of Molecular Sciences. 23, 4, 2231.Research output: Journal Articles › Journal articles › Research › peer-review
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2021
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing
Reyes, C. J., Laabs, B.-H., Schaake, S., Lüth, T., Ardicoglu, R., Rakovic, A., Grütz, K., Alvarez-Fischer, D., Jamora, R. D., Rosales, R. L., Weyers, I., König, I. R., Brüggemann, N., Klein, C., Dobricic, V., Westenberger, A. & Trinh, J., 08.2021, In: Neurology Genetics. 7, 4, p. e608Research output: Journal Articles › Journal articles › Research › peer-review
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Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity
Dulovic-Mahlow, M., König, I. R., Trinh, J., Diaw, S. H., Urban, P. P., Knappe, E., Kuhnke, N., Ingwersen, L. C., Hinrichs, F., Weber, J., Kupnicka, P., Balck, A., Delcambre, S., Vollbrandt, T., Grünewald, A., Klein, C., Seibler, P. & Lohmann, K., 01.2021, In: Annals of Neurology. 89, 1, p. 158-164 7 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease
The 23andMe Research Team, 07.2021, In: Annals of Neurology. 90, 1, p. 76-88 13 p.Research output: Journal Articles › Journal articles › Research › peer-review
3 Citations (Scopus) -
Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review
MDS-endorsed PSP Study Group, 07.2021, In: Movement Disorders. 36, 7, p. 1499-1510 12 p.Research output: Journal Articles › Scientific review articles › Research
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LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
The LIPAD Study Group, 09.08.2021, In: Frontiers in Neurology. 12, 710572.Research output: Journal Articles › Journal articles › Research › peer-review
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Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept
Lüth, T., Wasner, K., Klein, C., Schaake, S., Tse, R., Pereira, S. L., Laß, J., Sinkkonen, L., Grünewald, A. & Trinh, J., 2021, In: Frontiers in Aging Neuroscience. 13, p. 713084Research output: Journal Articles › Journal articles › Research › peer-review
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2020
Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors
Lüth, T., König, I. R., Grünewald, A., Kasten, M., Klein, C., Hentati, F., Farrer, M. & Trinh, J., 01.10.2020, In: Movement Disorders. 35, 10, p. 1854-1858 5 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease
International Parkinson Disease Genomics Consortium (IPDGC), 13.07.2020, In: Neurobiology of Aging. 97, p. 148.e17-148.e24Research output: Journal Articles › Journal articles › Research › peer-review
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Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Bally, J. F., Breen, D. P., Schaake, S., Trinh, J., Rakovic, A., Klein, C. & Lang, A. E., 02.2020, In: Parkinsonism and Related Disorders. 71, p. 44-45 2 p.Research output: Journal Articles › Letters › peer-review
2 Citations (Scopus) -
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors
Lang, A. E., Bally, J. F., Breen, D. P., Schaake, S., Trinh, J., Rakovic, A. & Klein, C., 05.2020, In: Parkinsonism and Related Disorders. 74, p. 80 1 p.Research output: Journal Articles › Letters › peer-review
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Mitochondrial Mechanisms of LRRK2 G2019S Penetrance
Delcambre, S., Ghelfi, J., Ouzren, N., Grandmougin, L., Delbrouck, C., Seibler, P., Wasner, K., Aasly, J. O., Klein, C., Trinh, J., Pereira, S. L. & Grünewald, A., 25.08.2020, In: Frontiers in Neurology. 11, 881.Research output: Journal Articles › Journal articles › Research › peer-review
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Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome
Trinh, J. & Klein, C., 01.02.2020, In: Annals of Neurology. 87, 2, p. 172-174 3 p.Research output: Journal Articles › Editorial
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Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance
the Michael J. Fox Foundation LRRK2 Cohort Consortium, 01.10.2020, In: Movement Disorders. 35, 10, p. 1755-1764 10 p.Research output: Journal Articles › Journal articles › Research › peer-review
2 Citations (Scopus) -
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
Trinh, J., Imhoff, S., Dulovic-Mahlow, M., Kandaswamy, K. K., Tadic, V., Schäfer, J., Dobricic, V., Nolte, A., Werber, M., Rolfs, A., Münchau, A., Klein, C., Lohmann, K. & Brüggemann, N., 01.03.2020, In: Journal of Neurology. 267, 3, p. 770-782 13 p.Research output: Journal Articles › Journal articles › Research › peer-review
1 Citation (Scopus) -
2019
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Dulovic-Mahlow, M., Trinh, J., Kandaswamy, K. K., Braathen, G. J., Di Donato, N., Rahikkala, E., Beblo, S., Werber, M., Krajka, V., Busk, Ø. L., Baumann, H., Al-Sannaa, N. A., Hinrichs, F., Affan, R., Navot, N., Al Balwi, M. A., Oprea, G., Holla, Ø. L., Weiss, M. E. R. & Jamra, R. A. & 6 others, , 03.07.2019, In: American Journal of Human Genetics. 105, 1, p. 213-220 8 p.Research output: Journal Articles › Journal articles › Research › peer-review
5 Citations (Scopus) -
How Do I Confirm that a New Mutation is Pathogenic?
Trinh, J., Tadic, V. & Klein, C., 15.03.2019, In: Movement Disorders Clinical Practice. 5, 2, p. 229Research output: Journal Articles › Journal articles › Research › peer-review
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Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers
Ouzren, N., Delcambre, S., Ghelfi, J., Seibler, P., Farrer, M. J., König, I. R., Aasly, J. O., Trinh, J., Klein, C. & Grünewald, A., 08.2019, In: Annals of Neurology. 86, 2, p. 324-326 3 p.Research output: Journal Articles › Letters › peer-review
3 Citations (Scopus) -
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
Trinh, J., Kandaswamy, K. K., Werber, M., Weiss, M. E. R., Oprea, G., Kishore, S., Lohmann, K. & Rolfs, A., 25.06.2019, In: Journal of Neurodevelopmental Disorders. 11, 1, 11.Research output: Journal Articles › Journal articles › Research › peer-review
3 Citations (Scopus) -
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci
International Parkinson’s Disease Genomics Consortium, 13.12.2019, In: Frontiers in Neurology. 10, 1284.Research output: Journal Articles › Journal articles › Research › peer-review
2 Citations (Scopus) -
Utility and implications of exome sequencing in early-onset Parkinson's disease
Trinh, J., Lohmann, K., Baumann, H., Balck, A., Borsche, M., Brüggemann, N., Dure, L., Dean, M., Volkmann, J., Tunc, S., Prasuhn, J., Pawlack, H., Imhoff, S., Lill, C. M., Kasten, M., Bauer, P., Rolfs, A. & Klein, C., 01.01.2019, In: Movement Disorders. 34, 1, p. 133-137 5 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients
Berenguer-Escuder, C., Grossmann, D., Massart, F., Antony, P. M. A., Burbulla, L. F., Glaab, E., Imhoff, S., Trinh, J., Seibler, P., Grünewald, A. & Krueger, R., 16.12.2019, In: Journal of Clinical Medicine. 8, 12, 2226.Research output: Journal Articles › Journal articles › Research › peer-review
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2018
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
Trinh, J., Hüning, I., Yüksel, Z., Baalmann, N., Imhoff, S., Klein, C., Rolfs, A., Gillessen-Kaesbach, G. & Lohmann, K., 01.09.2018, In: Journal of Human Genetics. 63, 9, p. 997-1001 5 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review
Trinh, J., Zeldenrust, F. M. J., Huang, J., Kasten, M., Schaake, S., Petkovic, S., Madoev, H., Grünewald, A., Almuammar, S., König, I. R., Lill, C. M., Lohmann, K., Klein, C. & Marras, C., 01.12.2018, In: Movement Disorders. 33, 12, p. 1857-1870 14 p.Research output: Journal Articles › Scientific review articles › Research
3 Citations (Scopus) -
LRP10 in α-synucleinopathies
International Parkinson's Disease Genomics Consortium, 12.2018, In: The Lancet Neurology. 17, 12, p. 1032 1 p.Research output: Journal Articles › Letters › peer-review
10 Citations (Scopus) -
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Seong, E., Insolera, R., Dulovic, M., Kamsteeg, E. J., Trinh, J., Brüggemann, N., Sandford, E., Li, S., Ozel, A. B., Li, J. Z., Jewett, T., Kievit, A. J. A., Münchau, A., Shakkottai, V., Klein, C., Collins, C. A., Lohmann, K., van de Warrenburg, B. P. & Burmeister, M., 01.06.2018, In: Annals of Neurology. 83, 6, p. 1075-1088 14 p.Research output: Journal Articles › Journal articles › Research › peer-review
6 Citations (Scopus) -
2017
A novel de novo mutation in CSNK2A1: Reinforcing the link to neurodevelopmental abnormalities and dysmorphic features
Trinh, J., Hüning, I., Budler, N., Hingst, V., Lohmann, K. & Gillessen-Kaesbach, G., 01.11.2017, In: Journal of Human Genetics. 62, 11, p. 1005-1006 2 p.Research output: Journal Articles › Letters › peer-review
9 Citations (Scopus) -
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients
Gustavsson, E. K., Trinh, J., McKenzie, M., Bortnick, S., Petersen, M. S., Farrer, M. J. & Aasly, J. O., 01.07.2017, In: Movement Disorders Clinical Practice. 4, 4, p. 499-508 10 p.Research output: Journal Articles › Journal articles › Research › peer-review
8 Citations (Scopus) -
2016
DCTN1 p.K56R in progressive supranuclear palsy
Gustavsson, E. K., Trinh, J., Guella, I., Szu-Tu, C., Khinda, J., Lin, C. H., Wu, R. M., Stoessl, A. J., Appel-Cresswell, S., McKeown, M., Rajput, A., Rajput, A. H., Petersen, M. S., Jeon, B. S., Aasly, J. O. & Farrer, M., 01.07.2016, In: Parkinsonism and Related Disorders. 28, p. 56-61 6 p.Research output: Journal Articles › Journal articles › Research › peer-review
17 Citations (Scopus)