Search Results - "Bernhard Landwehrmeyer, G."

Targeting Huntingtin Expression in Patients with Huntington’s Disease by Tabrizi, Sarah J, Leavitt, Blair R, Landwehrmeyer, G. Bernhard, Wild, Edward J, Saft, Carsten, Barker, Roger A, Blair, Nick F, Craufurd, David, Priller, Josef, Rickards, Hugh, Rosser, Anne, Kordasiewicz, Holly B, Czech, Christian, Swayze, Eric E, Norris, Daniel A, Baumann, Tiffany, Gerlach, Irene, Schobel, Scott A, Paz, Erika, Smith, Anne V, Bennett, C. Frank, Lane, Roger M

“…Mutated HTT , resulting in mutant huntingtin, causes Huntington’s disease. A phase 1–2a trial of intrathecal delivery of an antisense oligonucleotide targeting…”
Get full text

Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis by Tabrizi, Sarah J, Prof, Scahill, Rachael I, PhD, Durr, Alexandra, MD, Roos, Raymund AC, MD, Leavitt, Blair R, FRCPC, Jones, Rebecca, MSc, Landwehrmeyer, G Bernhard, MD, Fox, Nick C, MD, Johnson, Hans, PhD, Hicks, Stephen L, PhD, Kennard, Christopher, FRCP, Craufurd, David, FRCPsych, Frost, Chris, PhD, Langbehn, Douglas R, MD, Reilmann, Ralf, MD, Stout, Julie C, PhD

“…Summary Background TRACK-HD is a prospective observational study of Huntington's disease (HD) that examines disease progression in premanifest individuals…”
Get full text

Tominersen in Adults with Manifest Huntington's Disease by McColgan, Peter, Thobhani, Alpa, Boak, Lauren, Schobel, Scott A, Nicotra, Alessia, Palermo, Giuseppe, Trundell, Dylan, Zhou, Julian, Schlegel, Valerie, Sanwald Ducray, Patricia, Hawellek, David J, Dorn, Jonas, Simillion, Cedric, Lindemann, Michael, Wheelock, Vicki, Durr, Alexandra, Anderson, Karen E, Long, Jeffrey D, Wild, Edward J, Landwehrmeyer, G Bernhard, Leavitt, Blair R, Tabrizi, Sarah J, Doody, Rachelle

“…Tominersen and Huntington’s DiseaseA trial of tominersen, designed to slow Huntington’s disease progression by lowering levels of huntingtin protein, was…”
Get full text

Speech biomarkers in Huntington's disease: A cross‐sectional study in pre‐symptomatic, prodromal and early manifest stages by Kouba, Tomas, Frank, Wiebke, Tykalova, Tereza, Mühlbäck, Alzbeta, Klempíř, Jiří, Lindenberg, Katrin S., Landwehrmeyer, G. Bernhard, Rusz, Jan

“…Background and purpose Motor speech alterations are a prominent feature of clinically manifest Huntington's disease (HD). Objective acoustic analysis of speech…”
Get full text

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset by McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline S., Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura-Nadine, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael J., Hong, Eun Pyo, Lucente, Diane, Wheeler, Vanessa, Lee, Jong-Min, MacDonald, Marcy E., Long, Jeffrey D., Aylward, Elizabeth H., Landwehrmeyer, G. Bernhard, Rosser, Anne E., Paulsen, Jane S., Williams, Nigel M., Gusella, James F., Monckton, Darren G., Allen, Nicholas D., Holmans, Peter, Jones, Lesley, Massey, Thomas H.

“…The age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome…”
Get full text

Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues by Hoschek, Franziska, Natan, Julia, Wagner, Maximilian, Sathasivam, Kirupa, Abdelmoez, Alshaimaa, von Einem, Björn, Bates, Gillian P, Landwehrmeyer, G Bernhard, Neueder, Andreas

“…The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the…”
Get full text

Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington's disease gene expansion carriers by van Duijn, Erik, Vrijmoeth, Eslie M., Giltay, Erik J., Bernhard Landwehrmeyer, G.

“…Huntington's disease (HD) gene expansion carriers are at an increased risk of suicide, but so far, no studies have investigated the full spectrum of…”
Get full text

Ubiquitination and the proteasome rather than caspase‐3‐mediated C‐terminal cleavage are involved in the EAAT2 degradation by staurosporine‐induced cellular stress by Voss, Timo‐Daniel, Gerget, Maria, Linkus, Birgit, Einem, Bjoern, Landwehrmeyer, G. Bernhard, Lewerenz, Jan

“…Diminished glutamate (Glu) uptake via the excitatory amino acid transporter EAAT2, which normally accounts for ~90% of total forebrain EAAT activity, may…”
Get full text

General loss of proteostasis links Huntington disease to Cockayne syndrome by Wagner, Maximilian, Zhu, Gaojie, Khalid, Fatima, Phan, Tamara, Maity, Pallab, Lupu, Ludmila, Agyeman-Duah, Eric, Wiese, Sebastian, Lindenberg, Katrin S., Schön, Michael, Landwehrmeyer, G. Bernhard, Penzo, Marianna, Kochanek, Stefan, Scharffetter-Kochanek, Karin, Mulaw, Medhanie, Iben, Sebastian

“…Cockayne syndrome (CS) is an autosomal recessive disorder of developmental delay, multiple organ system degeneration and signs of premature ageing. We show…”
Get full text

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion by Barschke, Peggy, Oeckl, Patrick, Steinacker, Petra, Al Shweiki, MHD Rami, Weishaupt, Jochen H, Landwehrmeyer, G Bernhard, Anderl-Straub, Sarah, Weydt, Patrick, Diehl-Schmid, Janine, Danek, Adrian, Kornhuber, Johannes, Schroeter, Matthias L, Prudlo, Johannes, Jahn, Holger, Fassbender, Klaus, Lauer, Martin, van der Ende, Emma Louise, van Swieten, John Cornelis, Volk, Alexander E, Ludolph, Albert C, Otto, Markus

“…ObjectivesThe hexanucleotide repeat expansion in the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (C9-ALS) and…”
Get full text

Olfactory screening of Parkinson's Disease patients and healthy subjects in China and Germany: A study of cross-cultural adaptation of the Sniffin' Sticks 12-identification test by Pinkhardt, Elmar H, Liu, Huijing, Ma, Di, Chen, Jing, Pachollek, Adrian, Kunz, Martin S, Kassubek, Jan, Ludolph, Albert C, Huang, Yining, Chen, Haibo, Landwehrmeyer, G Bernhard, Wang, Zhaoxia, Su, Wen

“…Olfactory testing is a useful tool in the differential diagnosis of Parkinson's Disease (PD). Although fast and easy to use, the high intercultural variability…”
Get full text

Correction: Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues by Hoschek, Franziska, Natan, Julia, Wagner, Maximilian, Sathasivam, Kirupa, Abdelmoez, Alshaimaa, Einem, Björn von, Bates, Gillian P, Landwehrmeyer, G Bernhard, Neueder, Andreas

Get full text

A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset by SOYAL, Selma M, FELDER, Thomas K, AUER, Simon, HAHNE, Penelope, OBERKOFLER, Hannes, WITTING, Anke, PAULMICHL, Markus, BERNHARD LANDWEHRMEYER, G, WEYDT, Patrick, PATSCH, Wolfgang

“…PGC-1α has been implicated in the pathogenesis of neurodegenerative disorders. Several single-nucleotide polymorphisms (SNPs) located in two separate haplotype…”
Get full text

Overlap between age-at-onset and disease-progression determinants in Huntington disease by Aziz, N Ahmad, van der Burg, Jorien M.M, Tabrizi, Sarah J, Landwehrmeyer, G Bernhard

“…OBJECTIVEA fundamental but still unresolved issue regarding Huntington disease (HD) pathogenesis is whether the factors that determine age at onset are the…”
Get full text

HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease by Huang, Bin, Seefelder, Manuel, Buck, Eva, Engler, Tatjana, Lindenberg, Katrin S., Klein, Fabrice, Landwehrmeyer, G. Bernhard, Kochanek, Stefan

“…The huntingtin-associated protein 40 (HAP40) is an abundant interactor of huntingtin (HTT). In complexes of these proteins, HAP40 tightly binds to HTT in a…”
Get full text

Riluzole in Huntington's disease: a 3-year, randomized controlled study by Landwehrmeyer, G. Bernhard, Dubois, Bruno, de Yébenes, Justo Garcia, Kremer, Berry, Gaus, Wilhelm, Kraus, Peter H., Przuntek, Horst, Dib, Michel, Doble, Adam, Fischer, Wilhelm, Ludolph, Albert C.

“…Objective We conducted a randomized double‐blind trial of riluzole in Huntington's disease to investigate the efficacy of this antiexcitotoxic drug in slowing…”
Get full text

How to Arrange Follow-Up Time-Intervals for Longitudinal Brain MRI Studies in Neurodegenerative Diseases by Müller, Hans-Peter, Behler, Anna, Landwehrmeyer, G. Bernhard, Huppertz, Hans-Jürgen, Kassubek, Jan

“…Background: Longitudinal brain MRI monitoring in neurodegeneration potentially provides substantial insights into the temporal dynamics of the underlying…”
Get full text

Enroll-HD: An Integrated Clinical Research Platform and Worldwide Observational Study for Huntington's Disease by Sathe, Swati, Ware, Jen, Levey, Jamie, Neacy, Eileen, Blumenstein, Robi, Noble, Simon, Mühlbäck, Alzbeta, Rosser, Anne, Landwehrmeyer, G Bernhard, Sampaio, Cristina

“…Established in July 2012, Enroll-HD is both an integrated clinical research platform and a worldwide observational study designed to meet the clinical research…”
Get full text

Fast-to-Slow Transition of Skeletal Muscle Contractile Function and Corresponding Changes in Myosin Heavy and Light Chain Formation in the R6/2 Mouse Model of Huntington's Disease by Hering, Tanja, Braubach, Peter, Landwehrmeyer, G Bernhard, Lindenberg, Katrin S, Melzer, Werner

“…Huntington´s disease (HD) is a hereditary neurodegenerative disease resulting from an expanded polyglutamine sequence (poly-Q) in the protein huntingtin (HTT)…”
Get full text

Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases by Post, Annemarie E M, Klockgether, Thomas, Landwehrmeyer, G Bernhard, Pandolfo, Massimo, Arnesen, Astri, Reinhard, Carola, Graessner, Holm

“…Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research…”
Get full text