Meetings

Basal Ganglia Atrophy as a Marker for Prodromal X-linked Dystonia-Parkinsonism

Henrike Hanssen, Cid C E Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T S Manalo, Andreas Sprenger, Charles Jordan Reyes, Raphael Tucazon, Björn-Hergen Laabs, Aloysius Domingo, Raymond L Rosales, Christine Klein, Thomas F Münte, Ana Westenberger, Jean Q Oropilla, Norbert Brüggemann
Ann Neurol. 2023 Jan 16.
https://pubmed.ncbi.nlm.nih.gov/36646669/

Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study

Roberta Biasiotto, Maria Kösters, Katharina Tschigg, Peter P Pramstaller, Norbert Brüggemann, Max Borsche, Christine Klein, Andrew A Hicks, Deborah Mascalzoni
Eur J Hum Genet. 2023 Jan 4.
https://www.nature.com/articles/s41431-022-01277-6

A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities

Frida Mandik, Yuliia Kanana, Jost Rody, Sophie Misera, Bernd Wilken, Björn-Hergen Laabs von Holt, Christine Klein, Melissa Vos
Front Cell Dev Biol. 2022 Dec 14
https://pubmed.ncbi.nlm.nih.gov/36589738/

DJ-1 regulates mitochondrial gene expression during ischemia and reperfusion

JaAlex Gallinat, Aleksandar Rakovic, Christine Klein, Lina Badimon
Free Radic Biol Med. 2022 Oct 28;193(Pt 1):430-436.
https://pubmed.ncbi.nlm.nih.gov/36341940/

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

Angela Rosenbohm, Hendrik Pott, Mirja Thomsen, Haloom Rafehi, Sabine Kaya, Silke Szymczak, Alexander E Volk, Kathrin Mueller, Isabel Silveira, Jochen H Weishaupt, Holger Tönnies, Philip Seibler, Katja Zschiedrich, Susen Schaake, Ana Westenberger, Christine Zühlke, Christel Depienne, Joanne Trinh, Albert C Ludolph, Christine Klein, Melanie Bahlo, Katja Lohmann
Mov Disord. 2022 Dec;37(12):2427-2439.
doi: 10.1002/mds.29221. Epub 2022 Sep 23.
https://pubmed.ncbi.nlm.nih.gov/36148898/

Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process

Deborah Mascalzoni, Roberto Melotti, Cristian Pattaro, Peter Paul Pramstaller, Martin Gögele, Alessandro De Grandi, Roberta Biasiotto


Eur J Hum Genet. 2022 Dec;30(12):1391-1397.
doi: 10.1038/s41431-022-01160-4. Epub 2022 Sep 5.


https://pubmed.ncbi.nlm.nih.gov/36064788/

MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
J Med Genet. 2023 Apr;60(4):352-358.
doi: 10.1136/jmg-2022-108521. Epub 2022 Aug 24.
https://pubmed.ncbi.nlm.nih.gov/36002240/

Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders

Shela Marie Algodon, Tanja Fischer, Raymond Rosales, Roland Dominic Jamora, Cid Czarina Diesta, Gerard Saranza, Norbert Brüggemann, Christine Klein, Ana Westenberger
Mov Disord. 2022 Oct;37(10):2168-2169.
doi: 10.1002/mds.29191. Epub 2022 Aug 19.
https://pubmed.ncbi.nlm.nih.gov/35984100/

Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism

Charles Jourdan Reyes, Katsura Asano, Peter K Todd, Christine Klein, Aleksandar Rakovic
Mov Disord. 2022 Nov;37(11):2284-2289.
doi: 10.1002/mds.29183. Epub 2022 Aug 16.
https://pubmed.ncbi.nlm.nih.gov/35971992/

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