Trinh Joanne

Publikationen

Publikationen pro Jahr 2012 2014 2015 2019 2020 2021 2022 2023 2024

• 51 Zeitschriftenaufsätze
• 7 Briefe
• 5 Übersichtsarbeiten
• 1 Kommentare/Debatten
• 2 Mehr
  • 1 Leitartikel
  • 1 Vorabpublikation

Publikationen pro Jahr

Publikationen pro Jahr

Suchergebnisse

• 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 mehrSamanci, B., Lis, P., Trinh, J., Tocino, T. P., Amouri, R., Sassi, S. B., Hentati, F., Program (GP2), G. P. G., Tonelli, F., Alessi, D. R., Farrer, M. J., Barodia, S. K., Real, R., Liu, Z., Grant-Peters, M., Fox, J. D. & Cresswell, S., 2024, (THELANCETNEUROLOGY-D-24-00013).

  Publikation: Arbeitspapiere, Frühversionen › Vorabpublikation

  • Parkinson Disease, Familial, Type 1 100%
  • GTP Phosphohydrolases 71%
  • Phosphotransferases 48%
  • Haplotypes 29%
  • Lewy Bodies 20%

• 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, S. 16302 16302.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

• 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, S. 1145-1153 9 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung
• 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, S. 322

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Virulence 100%
  • Parkinson Disease 96%
  • Nanopore Sequencing 64%
  • Nanopores 29%
  • Genes 7%

• 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, S. 102

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Parkinson Disease 100%
  • Genome 81%
  • Single Nucleotide Polymorphism 53%
  • Genes 48%
  • Genotype 19%

• 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, S. 3377-3393 17 S.

  Publikation: Beiträge in Fachzeitschriften › Übersichtsarbeiten › Forschung

  • Episodic Ataxia 100%
  • Movement Disorders 64%
  • Systematic Reviews 42%
  • Genotype 41%
  • Genetic Association Studies 41%

• 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, S. 1837-1849 13 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Parkinsonian Disorders 100%
  • Parkinson Disease 76%
  • Life Style 74%
  • Age of Onset 57%
  • Movement Disorders 16%

• 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, S. 9537

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Coffee 100%
  • Parkinson Disease 70%
  • Life Style 68%
  • Deglutition 57%
  • Aspirin 51%

• 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 mehrHattori, N., Farrer, M. J., Lohmann, K., Weissensteiner, H., May, P., Klein, C. & Grünewald, A., 03.07.2023, in: Brain : a journal of neurology. 146, 7, S. 2753-2765 13 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Mitochondrial DNA 100%
  • Parkinson Disease 79%
  • Mutation 53%
  • Mitochondrial Dynamics 12%
  • Induced Pluripotent Stem Cells 10%

• 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, S. 104774 104774.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Exome 100%
  • Medical Genetics 84%
  • Spastic Paraplegia Type 4 43%
  • Phenotype 25%
  • Intellectual Disability 19%

• 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, S. 1107-1109 3 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

• Special Issue "Parkinson's Disease: Genetics and Pathogenesis"

  Lesage, S. & Trinh, J., 17.03.2023, in: Genes. 14, 3

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung

  • Neurodegenerative Diseases 100%
  • Parkinson Disease 96%
  • Population 45%

• 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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung

  • Parkinson Disease 10 100%
  • Parkinson Disease 53%
  • Life Style 52%
  • Age of Onset 45%
  • Aspirin 44%
• 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, S. 887644

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Nanopore Sequencing 100%
  • Benchmarking 63%
  • Mitochondrial DNA 61%
  • Gene Frequency 38%
  • Poecilia 32%

• 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, S. 4195-4203 9 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Coffee 100%
  • Age of Onset 79%
  • Aspirin 77%
  • Parkinson Disease 70%
  • Smoking 61%

• 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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Dystonia 3, Torsion, X-Linked 100%
  • Nanopore Sequencing 88%
  • Short Interspersed Nucleotide Elements 86%
  • Retroelements 68%
  • Methylation 47%

• 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 mehrBahlo, M. & Lohmann, K., 2022, in: Movement disorders : official journal of the Movement Disorder Society. 37, 12, S. 2427-2439 13 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Cerebellar Ataxia 100%
  • Spinocerebellar Ataxias 86%
  • Amyotrophic Lateral Sclerosis 85%
  • Movement Disorders 35%
  • Frontotemporal Dementia With Motor Neuron Disease 24%

• 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, S. 2659-2667 9 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Nanopore Sequencing 100%
  • Microbiota 58%
  • Reproduction 56%
  • Nanopores 26%
  • Female Infertility 11%

• 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, S. 103-116 14 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Penetrance 100%
  • Leucine 88%
  • Parkinson Disease 72%
  • Phosphotransferases 67%
  • Mutation 26%

• 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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Dystonia 3, Torsion, X-Linked 100%
  • Short Interspersed Nucleotide Elements 86%
  • Age of Onset 29%
  • Nanopore Sequencing 17%
  • Retroelements 13%

• 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 mehrSeibler, P., Spielmann, M., Pereira, S. L. & Grünewald, A., 07.2022, in: Movement disorders : official journal of the Movement Disorder Society. 37, 7, S. 1405-1415 11 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Mitochondrial Dynamics 100%
  • Mitochondrial DNA 81%
  • Inflammation 45%
  • Organelle Biogenesis 43%
  • Mesencephalon 26%

• 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 mehrRakovic, A., Kirchner, H., Spielmann, M., Kaiser, F. J., Klein, C. & Westenberger, A., 17.02.2022, in: International Journal of Molecular Sciences. 23, 4, 2231.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Dystonia 3, Torsion, X-Linked 100%
  • Short Interspersed Nucleotide Elements 86%
  • Retroelements 68%
  • Introns 20%
  • Nonsense Mediated mRNA Decay 15%
• 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, S. e608

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Dystonia 3, Torsion, X-Linked 100%
  • Nanopore Sequencing 88%
  • Basal Ganglia 35%
  • Cerebellum 31%
  • Short Interspersed Nucleotide Elements 28%

• 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, S. 158-164 7 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Twins 100%
  • Monozygotic Twins 85%
  • Parkinson Disease 79%
  • Fibroblasts 70%
  • Mitochondrial DNA 49%

• Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

  The 23andMe Research Team, 07.2021, in: Annals of Neurology. 90, 1, S. 76-88 13 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Penetrance 100%
  • Parkinson Disease 72%
  • Age of Onset 36%
  • Mutation 32%
  • Parkinson Disease 10 29%
  3 Zitate (Scopus)

• Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

  MDS-endorsed PSP Study Group, 07.2021, in: Movement Disorders. 36, 7, S. 1499-1510 12 S.

  Publikation: Beiträge in Fachzeitschriften › Übersichtsarbeiten › Forschung

  • Parkinsonian Disorders 100%
  • Systematic Reviews 67%
  • Age of Onset 57%
  • Levodopa 50%
  • Genetic Databases 39%

• 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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Leucine 100%
  • Parkinson Disease 81%
  • Phosphotransferases 75%
  • Penetrance 26%
  • Smell 8%

• 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, S. 713084

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Nanopores 100%
  • Parkinsonian Disorders 71%
  • Mitochondrial DNA 67%
  • DNA Methylation 63%
  • Parkinson Disease 54%
• 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, S. 1854-1858 5 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Leucine 100%
  • Age of Onset 92%
  • Life Style 79%
  • Phosphotransferases 75%
  • Tea 30%

• 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, S. 148.e17-148.e24

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Parkinson Disease 100%
  • Parkinson Disease 10 61%
  • Penetrance 45%
  • Linkage Disequilibrium 45%
  • Heterozygote 42%

• 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, S. 44-45 2 S.

  Publikation: Beiträge in Fachzeitschriften › Briefe › Begutachtung

  • Dopa-Responsive Dystonia 100%
  • Tyrosine 3-Monooxygenase 65%
  • Mutation 33%
  • Enzymes 32%
  • Phenotype 18%
  2 Zitate (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, S. 80 1 S.

  Publikation: Beiträge in Fachzeitschriften › Briefe › Begutachtung

• 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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • penetrance 100%
  • leucine 66%
  • phosphotransferases (kinases) 63%
  • Parkinson disease 62%
  • mitochondrial DNA 33%

• 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, S. 172-174 3 S.

  Publikation: Beiträge in Fachzeitschriften › Leitartikel

• 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, S. 1755-1764 10 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Penetrance 100%
  • Leucine 88%
  • Parkinson Disease 72%
  • Phosphotransferases 67%
  • Anti-Inflammatory Agents 63%
  2 Zitate (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, S. 770-782 13 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Niacinamide 100%
  • Ubiquinone 71%
  • Exome 63%
  • Fibroblasts 59%
  • Siblings 48%
  1 Zitat (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 mehrKahlert, A. K., Kishore, S., Tveten, K., Vos, M., Rolfs, A. & Lohmann, K., 03.07.2019, in: American Journal of Human Genetics. 105, 1, S. 213-220 8 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Troleandomycin 100%
  • Neurodevelopmental Disorders 74%
  • Phosphotransferases 49%
  • Diptera 45%
  • Amino Acids 44%
  5 Zitate (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, S. 229

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Virulence 100%
  • Mutation 64%
  • Technology 50%
  • Whole Exome Sequencing 45%
  • Whole Genome Sequencing 44%

• 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, S. 324-326 3 S.

  Publikation: Beiträge in Fachzeitschriften › Briefe › Begutachtung

  3 Zitate (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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Neurodevelopmental Disorders 100%
  • Exome 34%
  • Intellectual Disability 26%
  • Genes 22%
  • Megalencephaly 20%
  3 Zitate (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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Genome-Wide Association Study 100%
  • Parkinson Disease 80%
  • Exome 38%
  • Genomics 21%
  • Genetic Testing 10%
  2 Zitate (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, S. 133-137 5 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Exome 100%
  • Parkinson Disease 69%
  • Movement Disorders 69%
  • Genetic Load 34%
  • Genes 25%

• 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.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung
• 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, S. 997-1001 5 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Microcephaly 100%
  • Intellectual Disability 58%
  • Mutation 45%
  • Fathers 40%
  • Genetic Fitness 32%

• 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, S. 1857-1870 14 S.

  Publikation: Beiträge in Fachzeitschriften › Übersichtsarbeiten › Forschung

  • Parkinson Disease 100%
  • Systematic Reviews 87%
  • Genotype 85%
  • Phenotype 71%
  • Mutation 66%
  3 Zitate (Scopus)

• LRP10 in α-synucleinopathies

  International Parkinson's Disease Genomics Consortium, 12.2018, in: The Lancet Neurology. 17, 12, S. 1032 1 S.

  Publikation: Beiträge in Fachzeitschriften › Briefe › Begutachtung

  10 Zitate (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, S. 1075-1088 14 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Ataxia 100%
  • Autosomal recessive 4 Spinocerebellar ataxia 92%
  • Mutation 53%
  • Exome 45%
  • Paraplegia 44%
  6 Zitate (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, S. 1005-1006 2 S.

  Publikation: Beiträge in Fachzeitschriften › Briefe › Begutachtung

  9 Zitate (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, S. 499-508 10 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Parkinsonian Disorders 100%
  • Glucosylceramidase 26%
  • Age of Onset 25%
  • Parkinson Disease 22%
  • Mental Status and Dementia Tests 18%
  8 Zitate (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, S. 56-61 6 S.

  Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

  • Progressive Supranuclear Palsy 100%
  • Hypoventilation 65%
  • Parkinson Disease 62%
  • Perry Syndrome 50%
  • Microtubules 48%
  17 Zitate (Scopus)