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frontotemporal dementia

  • UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target
    Sean W Willemse, Peter Harley, Ruben P A van Eijk, Koen C Demaegd, Pavol Zelina, R Jeroen Pasterkamp, Philip van Damme, Caroline Ingre, Wouter van Rheenen, Jan H Veldink, Matthew C Kiernan, Ammar Al-Chalabi, Leonard H van den Berg, Pietro Fratta, Michael A van Es
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2023, jnnp-2022-330504; DOI: 10.1136/jnnp-2022-330504
  • Q351R MAPT mutation is associated with a mixed 3R/4R tauopathy and a slowly progressive cognitive, behavioural and parkinsonian syndrome
    Erin Halley Squillacote Drazich-Taylor, Emily Todd, Rhian Convery, Martina Bocchetta, Mica Clarke, Jason D Warren, Nick C Fox, Tamas Revesz, Jonathan Daniel Rohrer
    Journal of Neurology, Neurosurgery & Psychiatry Feb 2023, 94 (2) 169-171; DOI: 10.1136/jnnp-2022-329330
  • Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
    Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Lucy L Russell
    Journal of Neurology, Neurosurgery & Psychiatry Jan 2023, jnnp-2022-330152; DOI: 10.1136/jnnp-2022-330152
  • Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
    Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso-Jiménez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olivé, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Domínguez-González, George K Papadimas, Jodi Warman-Chardon, Kristl G Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N Alfano, Sruthi S Nair, Georgios Manousakis, Hani A Kushlaf, Matthew B Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge García-García, Endre Pál, Maria Elena Farrugia, Phillipa J Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Sushan Luo, Anders Oldfors, Kate Taylor, Stuart Ralston, Tanya Stojkovic, Conrad Weihl, Jordi Diaz-Manera
    Journal of Neurology, Neurosurgery & Psychiatry Oct 2022, 93 (10) 1099-1111; DOI: 10.1136/jnnp-2022-328921
  • Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
    Katherine M Wilson, Eszter Katona, Idoia Glaria, Mireia Carcolé, Imogen J Swift, Aitana Sogorb-Esteve, Carolin Heller, Arabella Bouzigues, Amanda J Heslegrave, Ashvini Keshavan, Kathryn Knowles, Saurabh Patil, Susovan Mohapatra, Yuanjing Liu, Jaya Goyal, Raquel Sanchez-Valle, Robert Jr Laforce, Matthis Synofzik, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Christopher R Butler, Alexander Gerhard, John C Van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Alexandre de Mendonça, Mario Masellis, M Carmela Tartaglia, Markus Otto, Caroline Graff, Simon Ducharme, Jonathan M Schott, Andrea Malaspina, Henrik Zetterberg, Ramakrishna Boyanapalli, Jonathan D Rohrer, Adrian M Isaacs
    Journal of Neurology, Neurosurgery & Psychiatry Jul 2022, 93 (7) 761-771; DOI: 10.1136/jnnp-2021-328710
  • Blood biomarkers may distinguish among dementia disorders
    Lucilla Parnetti, Federico Paolini Paoletti, Lorenzo Gaetani
    Journal of Neurology, Neurosurgery & Psychiatry Jun 2022, 93 (6) 571; DOI: 10.1136/jnnp-2021-328649
  • Differential levels of plasma biomarkers of neurodegeneration in Lewy body dementia, Alzheimer’s disease, frontotemporal dementia and progressive supranuclear palsy
    Leonidas Chouliaras, Alan Thomas, Maura Malpetti, Paul Donaghy, Joseph Kane, Elijah Mak, George Savulich, Maria A Prats-Sedano, Amanda J Heslegrave, Henrik Zetterberg, Li Su, James Benedict Rowe, John Tiernan O'Brien
    Journal of Neurology, Neurosurgery & Psychiatry Jun 2022, 93 (6) 651-658; DOI: 10.1136/jnnp-2021-327788
  • Serum GFAP differentiates Alzheimer’s disease from frontotemporal dementia and predicts MCI-to-dementia conversion
    Patrick Oeckl, Sarah Anderl-Straub, Christine A F Von Arnim, Inês Baldeiras, Janine Diehl-Schmid, Timo Grimmer, Steffen Halbgebauer, Anna M Kort, Marisa Lima, Tainá M Marques, Marion Ortner, Isabel Santana, Petra Steinacker, Marcel M Verbeek, Alexander E Volk, Albert C Ludolph, Markus Otto
    Journal of Neurology, Neurosurgery & Psychiatry Jun 2022, 93 (6) 659-667; DOI: 10.1136/jnnp-2021-328547
  • Psychopathology in premanifest C9orf72 repeat expansion carriers
    Joke De Vocht, Daphne Stam, Marie Nicolini, Nikita Lamaire, Maarten Laroy, Thomas Vande Casteele, Laura Van De Vliet, Kristof Vansteelandt, Ann D'Hondt, Louise Emsell, Ronny Bruffaerts, Mathieu Vandenbulcke, Philip van Damme, Jan Van den Stock
    Journal of Neurology, Neurosurgery & Psychiatry May 2022, 93 (5) 565-567; DOI: 10.1136/jnnp-2021-327774
  • GBA variants influence cognitive status in amyotrophic lateral sclerosis
    Antonio Canosa, Maurizio Grassano, Cristina Moglia, Barbara Iazzolino, Laura Peotta, Salvatore Gallone, Maura Brunetti, Marco Barberis, Luca Sbaiz, Francesca Palumbo, Sara Cabras, Umberto Manera, Rosario Vasta, Bryan Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo, Adriano Chio
    Journal of Neurology, Neurosurgery & Psychiatry Apr 2022, 93 (4) 453-455; DOI: 10.1136/jnnp-2021-327426

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