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| 2023 | Trinh, Joanne and Hicks, Andrew A and Konig, Inke R and Delcambre, Sylvie and Luth, Theresa and Schaake, Susen and Wasner, Kobi and Ghelfi, Jenny and Borsche, Max and Vilarino-Guell, Carles and Hentati, Faycel and Germer, Elisabeth L and Bauer, Peter and Takanashi, Masashi and Kostic, Vladimir and Lang, Anthony E and Bruggemann, Norbert and Pramstaller, Peter P and Pichler, Irene and Rajput, Alex and Hattori, Nobutaka and Farrer, Matthew J and Lohmann, Katja and Weissensteiner, Hansi and May, Patrick and Klein, Christine and Grunewald, Anne: Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease. In: Brain a journal of neurology, 146, 2023, 2753-2765 |
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| 2023 | Trinh, Joanne and Luth, Theresa and Schaake, Susen and Laabs, Bjorn-Hergen and Schluter, Kathleen and Labeta, Joshua and Pozojevic, Jelena and Tse, Ronnie and Konig, Inke and Jamora, Roland Dominic and Rosales, Raymond L and Bruggemann, Norbert and Saranza, Gerard and Diesta, Cid Czarina E and Kaiser, Frank J and Depienne, Christel and Pearson, Christopher E and Westenberger, Ana and Klein, Christine: Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset. In: Brain a journal of neurology, 146, 2023, 1075-1082 |
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| 2023 | Baalmann, Nadja and Spielmann, Malte and Gillessen-Kaesbach, Gabriele and Hanker, Britta and Schmidt, Julia and Lill, Christina M and Hellenbroich, Yorck and Greiten, Bianca and Lohmann, Katja and Trinh, Joanne and Huning, Irina: Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing. In: European journal of medical genetics, 66, 2023, 104774 |
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| 2023 | Saffie Awad, Paula and Lohmann, Katja and Hirmas, Yasmin and Hinrichs, Frauke and Thomsen, Mirja and Kauffman, Marcelo and Luth, Theresa and Trinh, Joanne and Westenberger, Ana and Chana-Cuevas, Pedro and Klein, Christine: Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family. In: Movement disorders official journal of the Movement Disorder Society, 38, 2023, 1107-1109 |
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| 2023 | Lesage, Suzanne and Trinh, Joanne: Special Issue "Parkinson's Disease: Genetics and Pathogenesis". In: Genes, 14, 2023, |
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| 2023 | Gabbert, Carolin and Blobaum, Leonie and Luth, Theresa and Konig, Inke R and Caliebe, Amke and Koch, Sebastian and Bjorn-Hergen, Laabs and Klein, Christine and Trinh, Joanne: The combined effect of lifestyle factors and polygenic scores on age at onset in Parkinson's disease. In: medRxiv the preprint server for health sciences, 2023, |
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| 2022 | Luth, Theresa and Schaake, Susen and Grunewald, Anne and May, Patrick and Trinh, Joanne and Weissensteiner, Hansi: Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA. In: Frontiers in genetics, 13, 2022, 887644 |
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| 2022 | Gabbert, Carolin and Konig, Inke R and Luth, Theresa and Kolms, Beke and Kasten, Meike and Vollstedt, Eva-Juliane and Balck, Alexander and Grunewald, Anne and Klein, Christine and Trinh, Joanne: Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson's disease. In: Journal of neurology, 269, 2022, 4195-4203 |
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| 2022 | Luth, Theresa and Labeta, Joshua and Schaake, Susen and Wohlers, Inken and Pozojevic, Jelena and Jamora, Roland Dominic G and Rosales, Raymond L and Bruggemann, Norbert and Saranza, Gerard and Diesta, Cid Czarina E and Schluter, Kathleen and Tse, Ronnie and Reyes, Charles Jourdan and Brand, Max and Busch, Hauke and Klein, Christine and Westenberger, Ana and Trinh, Joanne: Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. In: Genes, 13, 2022, |
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| 2022 | Rosenbohm, Angela and Pott, Hendrik and Thomsen, Mirja and Rafehi, Haloom and Kaya, Sabine and Szymczak, Silke and Volk, Alexander E and Mueller, Kathrin and Silveira, Isabel and Weishaupt, Jochen H and Tonnies, Holger and Seibler, Philip and Zschiedrich, Katja and Schaake, Susen and Westenberger, Ana and Zuhlke, Christine and Depienne, Christel and Trinh, Joanne and Ludolph, Albert C and Klein, Christine and Bahlo, Melanie and Lohmann, Katja: Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study. In: Movement disorders official journal of the Movement Disorder Society, 37, 2022, 2427-2439 |
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| 2022 | Luth, Theresa and Graspeuntner, Simon and Neumann, Kay and Kirchhoff, Laura and Masuch, Antonia and Schaake, Susen and Lupatsii, Mariia and Tse, Ronnie and Griesinger, Georg and Trinh, Joanne and Rupp, Jan: Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing. In: Journal of assisted reproduction and genetics, 39, 2022, 2659-2667 |
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| 2022 | Trinh, Joanne and Schymanski, Emma L and Smajic, Semra and Kasten, Meike and Sammler, Esther and Grunewald, Anne: Molecular mechanisms defining penetrance of LRRK2-associated Parkinson's disease. In: Medizinische Genetik Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 34, 2022, 103-116 |
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| 2022 | Wasner, Kobi and Smajic, Semra and Ghelfi, Jenny and Delcambre, Sylvie and Prada-Medina, Cesar A and Knappe, Evelyn and Arena, Giuseppe and Mulica, Patrycja and Agyeah, Gideon and Rakovic, Aleksandar and Boussaad, Ibrahim and Badanjak, Katja and Ohnmacht, Jochen and Gerardy, Jean-Jacques and Takanashi, Masashi and Trinh, Joanne and Mittelbronn, Michel and Hattori, Nobutaka and Klein, Christine and Antony, Paul and Seibler, Philip and Spielmann, Malte and Pereira, Sandro L and Grunewald, Anne: Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation. In: Movement disorders official journal of the Movement Disorder Society, 37, 2022, 1405-1415 |
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| 2022 | Pozojevic, Jelena and Algodon, Shela Marie and Cruz, Joseph Neos and Trinh, Joanne and Bruggemann, Norbert and Lass, Joshua and Grutz, Karen and Schaake, Susen and Tse, Ronnie and Yumiceba, Veronica and Kruse, Nathalie and Schulz, Kristin and Sreenivasan, Varun K A and Rosales, Raymond L and Jamora, Roland Dominic G and Diesta, Cid Czarina E and Matschke, Jakob and Glatzel, Markus and Seibler, Philip and Handler, Kristian and Rakovic, Aleksandar and Kirchner, Henriette and Spielmann, Malte and Kaiser, Frank J and Klein, Christine and Westenberger, Ana: Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. In: International journal of molecular sciences, 23, 2022, |
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| 2021 | Brown, Emmeline E and Blauwendraat, Cornelis and Trinh, Joanne and Rizig, Mie and Nalls, Mike A and Leveille, Etienne and Ruskey, Jennifer A and Jonvik, Hallgeir and Tan, Manuela M X and Bandres-Ciga, Sara and Hassin-Baer, Sharon and Brockmann, Kathrin and Infante, Jon and Tolosa, Eduardo and Ezquerra, Mario and Ben Romdhan, Sawssan and Benmahdjoub, Mustapha and Arezki, Mohamed and Mhiri, Chokri and Hardy, John and Singleton, Andrew B and Alcalay, Roy N and Gasser, Thomas and Grosset, Donald G and Williams, Nigel M and Pittman, Alan and Gan-Or, Ziv and Fernandez-Santiago, Ruben and Brice, Alexis and Lesage, Suzanne and Farrer, Matthew and Wood, Nicholas and Morris, Huw R: Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease. In: Neurobiology of aging, 97, 2021, 148.e17-148.e24 |
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| 2021 | Reyes, Charles Jourdan and Laabs, Bjorn-Hergen and Schaake, Susen and Luth, Theresa and Ardicoglu, Raphaela and Rakovic, Aleksandar and Grutz, Karen and Alvarez-Fischer, Daniel and Jamora, Roland Dominic and Rosales, Raymond L and Weyers, Imke and Konig, Inke R and Bruggemann, Norbert and Klein, Christine and Dobricic, Valerija and Westenberger, Ana and Trinh, Joanne: Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. In: Neurology. Genetics, 7, 2021, e608 |
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| 2021 | Dulovic-Mahlow, Marija and Konig, Inke R and Trinh, Joanne and Diaw, Sokhna Haissatou and Urban, Peter P and Knappe, Evelyn and Kuhnke, Neele and Ingwersen, Lena-Christin and Hinrichs, Frauke and Weber, Joachim and Kupnicka, Patrycja and Balck, Alexander and Delcambre, Sylvie and Vollbrandt, Tillman and Grunewald, Anne and Klein, Christine and Seibler, Philip and Lohmann, Katja: Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity. In: Annals of neurology, 89, 2021, 158-164 |
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| 2021 | Lai, Dongbing and Alipanahi, Babak and Fontanillas, Pierre and Schwantes-An, Tae-Hwi and Aasly, Jan and Alcalay, Roy N and Beecham, Gary W and Berg, Daniela and Bressman, Susan and Brice, Alexis and Brockman, Kathrin and Clark, Lorraine and Cookson, Mark and Das, Sayantan and Van Deerlin, Vivianna and Follett, Jordan and Farrer, Matthew J and Trinh, Joanne and Gasser, Thomas and Goldwurm, Stefano and Gustavsson, Emil and Klein, Christine and Lang, Anthony E and Langston, J William and Latourelle, Jeanne and Lynch, Timothy and Marder, Karen and Marras, Connie and Martin, Eden R and McLean, Cory Y and Mejia-Santana, Helen and Molho, Eric and Myers, Richard H and Nuytemans, Karen and Ozelius, Laurie and Payami, Haydeh and Raymond, Deborah and Rogaeva, Ekaterina and Rogers, Michael P and Ross, Owen A and Samii, Ali and Saunders-Pullman, Rachel and Schule, Birgitt and Schulte, Claudia and Scott, William K and Tanner, Caroline and Tolosa, Eduardo and Tomkins, James E and Vilas, Dolores and Trojanowski, John Q and Uitti, Ryan and Vance, Jeffery M and Visanji, Naomi P and Wszolek, Zbigniew K and Zabetian, Cyrus P and Mirelman, Anat and Giladi, Nir and Orr Urtreger, Avi and Cannon, Paul and Fiske, Brian and Foroud, Tatiana: Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease. In: Annals of neurology, 90, 2021, 76-88 |
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| 2021 | Wittke, Christina and Petkovic, Sonja and Dobricic, Valerija and Schaake, Susen and Respondek, Gesine and Weissbach, Anne and Madoev, Harutyun and Trinh, Joanne and Vollstedt, Eva-Juliane and Kuhnke, Neele and Lohmann, Katja and Dulovic Mahlow, Marija and Marras, Connie and Konig, Inke R and Stamelou, Maria and Bonifati, Vincenzo and Lill, Christina M and Kasten, Meike and Huppertz, Hans-Jurgen and Hoglinger, Gunter and Klein, Christine: Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review. In: Movement disorders official journal of the Movement Disorder Society, 36, 2021, 1499-1510 |
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| 2021 | Usnich, Tatiana and Vollstedt, Eva-Juliane and Schell, Nathalie and Skrahina, Volha and Bogdanovic, Xenia and Gaber, Hanaa and Forster, Toni M and Heuer, Andreas and Koleva-Alazeh, Natalia and Csoti, Ilona and Basak, Ayse Nazli and Ertan, Sibel and Genc, Gencer and Bauer, Peter and Lohmann, Katja and Grunewald, Anne and Schymanski, Emma L and Trinh, Joanne and Schaake, Susen and Berg, Daniela and Gruber, Doreen and Isaacson, Stuart H and Kuhn, Andrea A and Mollenhauer, Brit and Pedrosa, David J and Reetz, Kathrin and Sammler, Esther M and Valente, Enza Maria and Valzania, Franco and Volkmann, Jens and Zittel, Simone and Bruggemann, Norbert and Kasten, Meike and Rolfs, Arndt and Klein, Christine: LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort. In: Frontiers in neurology, 12, 2021, 710572 |
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| 2021 | Luth, Theresa and Wasner, Kobi and Klein, Christine and Schaake, Susen and Tse, Ronnie and Pereira, Sandro L and Lass, Joshua and Sinkkonen, Lasse and Grunewald, Anne and Trinh, Joanne: Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept. In: Frontiers in aging neuroscience, 13, 2021, 713084 |
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| 2020 | Luth, Theresa and Konig, Inke R and Grunewald, Anne and Kasten, Meike and Klein, Christine and Hentati, Faycel and Farrer, Matthew and Trinh, Joanne: Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors. In: Movement disorders official journal of the Movement Disorder Society, 35, 2020, 1854-1858 |
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| 2020 | Bally, Julien F and Breen, David P and Schaake, Susen and Trinh, Joanne and Rakovic, Aleksandar and Klein, Christine and Lang, Anthony E: Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?. In: Parkinsonism \& related disorders, 71, 2020, 44-45 |
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| 2020 | Lang, Anthony E and Bally, Julien F and Breen, David P and Schaake, Susen and Trinh, Joanne and Rakovic, Aleksandar and Klein, Christine: Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors. In: Parkinsonism \& related disorders, 74, 2020, 80 |
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| 2020 | Delcambre, Sylvie and Ghelfi, Jenny and Ouzren, Nassima and Grandmougin, Lea and Delbrouck, Catherine and Seibler, Philip and Wasner, Kobi and Aasly, Jan O and Klein, Christine and Trinh, Joanne and Pereira, Sandro L and Grunewald, Anne: Mitochondrial Mechanisms of LRRK2 G2019S Penetrance. In: Frontiers in neurology, 11, 2020, 881 |
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| 2020 | Trinh, Joanne and Klein, Christine: Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome. In: Annals of neurology, 87, 2020, 172-174 |
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| 2020 | San Luciano, Marta and Tanner, Caroline M and Meng, Cheryl and Marras, Connie and Goldman, Samuel M and Lang, Anthony E and Tolosa, Eduardo and Schule, Birgitt and Langston, J William and Brice, Alexis and Corvol, Jean-Christophe and Goldwurm, Stefano and Klein, Christine and Brockman, Simone and Berg, Daniela and Brockmann, Kathrin and Ferreira, Joachim J and Tazir, Meriem and Mellick, George D and Sue, Carolyn M and Hasegawa, Kazuko and Tan, Eng King and Bressman, Susan and Saunders-Pullman, Rachel: Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance. In: Movement disorders official journal of the Movement Disorder Society, 35, 2020, 1755-1764 |
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| 2020 | Trinh, Joanne and Imhoff, Sophie and Dulovic-Mahlow, Marija and Kandaswamy, Krishna Kumar and Tadic, Vera and Schafer, Jochen and Dobricic, Valerija and Nolte, Achim and Werber, Martin and Rolfs, Arndt and Munchau, Alexander and Klein, Christine and Lohmann, Katja and Bruggemann, Norbert: Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. In: Journal of neurology, 267, 2020, 770-782 |
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| 2019 | Dulovic-Mahlow, Marija and Trinh, Joanne and Kandaswamy, Krishna Kumar and Braathen, Geir Julius and Di Donato, Nataliya and Rahikkala, Elisa and Beblo, Skadi and Werber, Martin and Krajka, Victor and Busk, Oyvind L and Baumann, Hauke and Al-Sannaa, Nouriya Abbas and Hinrichs, Frauke and Affan, Rabea and Navot, Nir and Al Balwi, Mohammed A and Oprea, Gabriela and Holla, Oystein L and Weiss, Maximilian E R and Jamra, Rami A and Kahlert, Anne-Karin and Kishore, Shivendra and Tveten, Kristian and Vos, Melissa and Rolfs, Arndt and Lohmann, Katja: De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. In: American journal of human genetics, 105, 2019, 213-220 |
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| 2019 | Ouzren, Nassima and Delcambre, Sylvie and Ghelfi, Jenny and Seibler, Philip and Farrer, Matthew J and Konig, Inke R and Aasly, Jan O and Trinh, Joanne and Klein, Christine and Grunewald, Anne: Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers. In: Annals of neurology, 86, 2019, 324-326 |
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| 2019 | Trinh, Joanne and Kandaswamy, Krishna Kumar and Werber, Martin and Weiss, Maximilian E R and Oprea, Gabriela and Kishore, Shivendra and Lohmann, Katja and Rolfs, Arndt: Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders. In: Journal of neurodevelopmental disorders, 11, 2019, 11 |
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| 2019 | Germer, Elisabeth Luisa and Imhoff, Sophie and Vilarino-Guell, Carles and Kasten, Meike and Seibler, Philip and Bruggemann, Norbert and Klein, Christine and Trinh, Joanne: The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. In: Frontiers in neurology, 10, 2019, 1284 |
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| 2019 | Trinh, Joanne and Lohmann, Katja and Baumann, Hauke and Balck, Alexander and Borsche, Max and Bruggemann, Norbert and Dure, Leon and Dean, Marissa and Volkmann, Jens and Tunc, Sinem and Prasuhn, Jannik and Pawlack, Heike and Imhoff, Sophie and Lill, Christina M and Kasten, Meike and Bauer, Peter and Rolfs, Arndt and Klein, Christine: Utility and implications of exome sequencing in early-onset Parkinson's disease. In: Movement disorders official journal of the Movement Disorder Society, 34, 2019, 133-137 |
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| 2019 | Berenguer-Escuder, Clara and Grossmann, Dajana and Massart, Franois and Antony, Paul and Burbulla, Lena F and Glaab, Enrico and Imhoff, Sophie and Trinh, Joanne and Seibler, Philip and Grunewald, Anne and Kruger, Rejko: Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients. In: Journal of clinical medicine, 8, 2019, |
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| 2018 | Trinh, Joanne and Huning, Irina and Yuksel, Zafer and Baalmann, Nadja and Imhoff, Sophie and Klein, Christine and Rolfs, Arndt and Gillessen-Kaesbach, Gabriele and Lohmann, Katja: A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. In: Journal of human genetics, 63, 2018, 997-1001 |
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| 2018 | Trinh, Joanne and Zeldenrust, Florentine M J and Huang, Jana and Kasten, Meike and Schaake, Susen and Petkovic, Sonja and Madoev, Harutyun and Grunewald, Anne and Almuammar, Shahad and Konig, Inke R and Lill, Christina M and Lohmann, Katja and Klein, Christine and Marras, Connie: Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review. In: Movement disorders official journal of the Movement Disorder Society, 33, 2018, 1857-1870 |
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| 2018 | Trinh, Joanne and Tadic, Vera and Klein, Christine: How Do I Confirm that a New Mutation is Pathogenic?. In: Movement disorders clinical practice, 5, 2018, 229 |
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| 2018 | Kia, Demis A and Sabir, Marya S and Ahmed, Sarah and Trinh, Joanne and Bandres-Ciga, Sara: LRP10 in alpha-synucleinopathies. In: The Lancet. Neurology, 17, 2018, 1032 |
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| 2018 | Seong, Eunju and Insolera, Ryan and Dulovic, Marija and Kamsteeg, Erik-Jan and Trinh, Joanne and Bruggemann, Norbert and Sandford, Erin and Li, Sheng and Ozel, Ayse Bilge and Li, Jun Z and Jewett, Tamison and Kievit, Anneke J A and Munchau, Alexander and Shakkottai, Vikram and Klein, Christine and Collins, Catherine A and Lohmann, Katja and van de Warrenburg, Bart P and Burmeister, Margit: Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. In: Annals of neurology, 83, 2018, 1075-1088 |
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| 2017 | Trinh, Joanne and Huning, Irina and Budler, Nadja and Hingst, Volker and Lohmann, Katja and Gillessen-Kaesbach, Gabriele: A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. In: Journal of human genetics, 62, 2017, 1005-1006 |
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| 2017 | Gustavsson, Emil K and Trinh, Joanne and McKenzie, Marna and Bortnick, Stephanie and Petersen, Maria Skaalum and Farrer, Matthew J and Aasly, Jan O: Genetic Identification in Early Onset Parkinsonism among Norwegian Patients. In: Movement disorders clinical practice, 4, 2017, 499-508 |
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| 2016 | Gustavsson, Emil K and Trinh, Joanne and Guella, Ilaria and Szu-Tu, Chelsea and Khinda, Jaskaran and Lin, Chin-Hsien and Wu, Ruey-Meei and Stoessl, Jon and Appel-Cresswell, Silke and McKeown, Martin and Rajput, Alex and Rajput, Ali H and Petersen, Maria Skaalum and Jeon, Beom S and Aasly, Jan O and Farrer, Matthew J: DCTN1 p.K56R in progressive supranuclear palsy. In: Parkinsonism \& related disorders, 28, 2016, 56-61 |
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| 2016 | Trinh, Joanne and Gustavsson, Emil K and Vilarino-Guell, Carles and Bortnick, Stephanie and Latourelle, Jeanne and McKenzie, Marna B and Tu, Chelsea Szu and Nosova, Ekaterina and Khinda, Jaskaran and Milnerwood, Austen and Lesage, Suzanne and Brice, Alexis and Tazir, Meriem and Aasly, Jan O and Parkkinen, Laura and Haytural, Hazal and Foroud, Tatiana and Myers, Richard H and Sassi, Samia Ben and Hentati, Emna and Nabli, Fatma and Farhat, Emna and Amouri, Rim and Hentati, Faycal and Farrer, Matthew J: DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. In: The Lancet. Neurology, 15, 2016, 1248-1256 |
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| 2015 | Trinh, Joanne and Vilarino-Guell, Carles and Ross, Owen A: A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson's disease. In: Journal of human genetics, 60, 2015, 405-6 |
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| 2015 | Gustavsson, Emil K and Trinh, Joanne and Guella, Ilaria and Vilarino-Guell, Carles and Appel-Cresswell, Silke and Stoessl, A Jon and Tsui, Joseph K and McKeown, Martin and Rajput, Alex and Rajput, Ali H and Aasly, Jan O and Farrer, Matthew J: DNAJC13 genetic variants in parkinsonism. In: Movement disorders official journal of the Movement Disorder Society, 30, 2015, 273-8 |
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| 2015 | Cohen, A S A and Wilson, S L and Trinh, J and Ye, X C: Detecting somatic mosaicism: considerations and clinical implications. In: Clinical genetics, 87, 2015, 554-62 |
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| 2015 | Gustavsson, Emil K and Guella, Ilaria and Trinh, Joanne and Szu-Tu, Chelsea and Rajput, Alex and Rajput, Ali H and Steele, John C and McKeown, Martin and Jeon, Beom S and Aasly, Jan O and Farrer, Matthew J: Genetic variability of the retromer cargo recognition complex in parkinsonism. In: Movement disorders official journal of the Movement Disorder Society, 30, 2015, 580-4 |
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| 2015 | Trinh, Joanne and Guella, Ilaria and McKenzie, Marna and Gustavsson, Emil K and Szu-Tu, Chelsea and Petersen, Maria Skaalum and Rajput, Alex and Rajput, Ali H and McKeown, Martin and Jeon, Beom S and Aasly, Jan O and Bardien, Soraya and Farrer, Matthew J: Novel LRRK2 mutations in Parkinsonism. In: Parkinsonism \& related disorders, 21, 2015, 1119-21 |
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| 2014 | Trinh, Joanne and Amouri, Rim and Duda, John E and Morley, James F and Read, Matthew and Donald, Alan and Vilarino-Guell, Carles and Thompson, Christina and Szu Tu, Chelsea and Gustavsson, Emil K and Ben Sassi, Samia and Hentati, Emna and Zouari, Mourad and Farhat, Emna and Nabli, Fatma and Hentati, Faycel and Farrer, Matthew J: Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism. In: Neurobiology of aging, 35, 2014, 1125-31 |
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| 2014 | Vilarino-Guell, Carles and Rajput, Alex and Milnerwood, Austen J and Shah, Brinda and Szu-Tu, Chelsea and Trinh, Joanne and Yu, Irene and Encarnacion, Mary and Munsie, Lise N and Tapia, Lucia and Gustavsson, Emil K and Chou, Patrick and Tatarnikov, Igor and Evans, Daniel M and Pishotta, Frederick T and Volta, Mattia and Beccano-Kelly, Dayne and Thompson, Christina and Lin, Michelle K and Sherman, Holly E and Han, Heather J and Guenther, Bruce L and Wasserman, Wyeth W and Bernard, Virginie and Ross, Colin J and Appel-Cresswell, Silke and Stoessl, A Jon and Robinson, Christopher A and Dickson, Dennis W and Ross, Owen A and Wszolek, Zbigniew K and Aasly, Jan O and Wu, Ruey-Meei and Hentati, Faycal and Gibson, Rachel A and McPherson, Peter S and Girard, Martine and Rajput, Michele and Rajput, Ali H and Farrer, Matthew J: DNAJC13 mutations in Parkinson disease. In: Human molecular genetics, 23, 2014, 1794-801 |
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| 2014 | Trinh, Joanne and Guella, Ilaria and Farrer, Matthew James: Disease penetrance of late-onset parkinsonism: a meta-analysis. In: JAMA neurology, 71, 2014, 1535-9 |
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| 2014 | Hentati, Faycel and Trinh, Joanne and Thompson, Christina and Nosova, Ekaterina and Farrer, Matthew J and Aasly, Jan O: LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance. In: Neurology, 83, 2014, 568-9 |
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| 2014 | Trinh, J and Gustavsson, E K and Guella, I and Vilarino-Guell, C and Evans, D and Encarnacion, M and Sherman, H and Hentati, F and Farrer, M J: The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population. In: European journal of neurology, 21, 2014, e91-2 |
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| 2013 | Trinh, Joanne and Farrer, Matt: Advances in the genetics of Parkinson disease. In: Nature reviews. Neurology, 9, 2013, 445-54 |
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| 2013 | Appel-Cresswell, Silke and Vilarino-Guell, Carles and Encarnacion, Mary and Sherman, Holly and Yu, Irene and Shah, Brinda and Weir, David and Thompson, Christina and Szu-Tu, Chelsea and Trinh, Joanne and Aasly, Jan O and Rajput, Alex and Rajput, Ali H and Jon Stoessl, A and Farrer, Matthew J: Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. In: Movement disorders official journal of the Movement Disorder Society, 28, 2013, 811-3 |
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| 2013 | Trinh, Joanne and Vilarino-Guell, Carles and Donald, Alan and Shah, Brinda and Yu, Irene and Szu-Tu, Chelsea and Aasly, Jan O and Wu, Ruey-Meei and Hentati, Faycal and Rajput, Ali H and Rajput, Alex and Farrer, Matthew J: STX6 rs1411478 is not associated with increased risk of Parkinson's disease. In: Parkinsonism \& related disorders, 19, 2013, 563-5 |
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| 2012 | Morimoto, Marie and Souich, Christele du and Trinh, Joanne and McLarren, Keith W and Boerkoel, Cornelius F and Hendson, Glenda: Expression profile of NSDHL in human peripheral tissues. In: Journal of molecular histology, 43, 2012, 95-106 |
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| 2012 | Chu, Jeffery S C and Tarailo-Graovac, Maja and Zhang, Di and Wang, Jun and Uyar, Bora and Tu, Domena and Trinh, Joanne and Baillie, David L and Chen, Nansheng: Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans. In: Nucleic acids research, 40, 2012, 53-64 |
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| 1993 | Wise, Adina and Raymond, Deborah and Saunders-Pullman, Rachel: LRRK2-Related Parkinson Disease. 1993, |
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