Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Peter Heutink"'
Publikováno v:
Movement disorders 36(4), 832-841 (2021). doi:10.1002/mds.28387
Parkinson's disease (PD) is primarily known as a movement disorder because of typical clinical manifestations associated with the loss of dopaminergic neurons in the substantia nigra. However, it is now widely recognized that PD is a much more comple
Autor:
Lisa M. Shulman, Hirotaka Iwaki, David A. Hinds, Jacob Gratten, Huw R. Morris, Joseph Jankovic, Costanza L. Vallerga, J. Raphael Gibbs, John Hardy, Javier Simón-Sánchez, Johan Marinus, Thomas Gasser, Peter Heutink, Alexis Brice, Andrew B. Singleton, Dena G. Hernandez, Jean-Christophe Corvol, Karl Heilbron, Donald G. Grosset, Manu Sharma, Ari Siitonen, Peter M. Visscher, Sonja W. Scholz, Pentti J. Tienari, Lynne Krohn, Mathias Toft, Manuela Tan, Johanna Eerola-Rautio, Mike A. Nalls, Jacobus J. van Hilten, Lasse Pihlstrøm, Claudia Schulte, Ziv Gan-Or, Sara Bandres-Ciga, Cornelis Blauwendraat, Hampton L. Leonard, Alastair J. Noyce, Kari Majamaa, Rainer von Coelln, N Wood, Joshua M. Shulman, Suzanne Lesage
Publikováno v:
Movement disorders 34(6), 866-875 (2019). doi:10.1002/mds.27659
Mov Disord
Movement Disorders, 34(6), 866-875
Mov Disord
Movement Disorders, 34(6), 866-875
Background Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome-wide association studies (GWAS) have shed light on the genetic basis of risk for this disease. However, the genetic determinants of PD age at
Autor:
Alfredo Ramirez, Iris E. Jansen, Javier Simón-Sánchez, Estrella Morenas-Rodríguez, Afina W. Lemstra, Carmen Lage, Marc Hulsman, Pascual Sánchez-Juan, Sven J. van der Lee, Jordi Clarimón, Erik B. van den Akker, Juan Fortea, Sonja W. Scholz, Marcel J. T. Reinders, Najada Stringa, Philip Scheltens, Natasja M. van Schoor, Modifying Factors in Fronto-Temporal Dementia Investigators, Ignacio Illán-Gala, Eloy Rodríguez, Henne Holstege, Eline Slagboom, Amit Kawalia, Martijn Huisman, Yolande A.L. Pijnenburg, Wiesje M. Flier, Agustín Ruiz, Alberto Lleó, Isabel Hernández, Maria Carolina Dalmasso, Cornelis Blauwendraat, Peter Heutink, Olga Pletnikova
Publikováno v:
Alzheimer's & Dementia. 14
Autor:
Max Koppers, Jochen H. Weishaupt, Philip Van Damme, Aleksey Shatunov, Albert C. Ludolph, John Landers, Karen E. Morrison, Jan H. Veldink, R. Jeroen Pasterkamp, Orla Hardiman, Judith Melki, Karol Estrada, David Czell, Robert H. Brown, John C. van Swieten, Fernando Rivadeneira, Vincent Meininger, P. Nigel Leigh, Leonard H. van den Berg, Wim Robberecht, Peter M. Andersen, Vivianna M. Van Deerlin, Albert Hofman, Christopher Shaw, André G. Uitterlinden, Vincenzo Silani, Michael A. van Es, Frank P. Diekstra, Adriano Chiò, Isabella Fogh, Peter Heutink, Markus Weber, Paul I.W. de Bakker, Pamela J. Shaw, Ammar Al-Chalabi, Bryan J. Traynor
Publikováno v:
Annals of Neurology. 76:120-133
OBJECTIVE Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansio
Autor:
Sasja Heeltveld, Sara Duarte-Silva, Joana Silva, Ka Wan Li, Ioannis Sotiropoulos, Patrícia Maciel, Andreia Neves-Carvalho, Peter Heutink, Bruno Almeida
Publikováno v:
Alzheimer's & Dementia. 15:P990-P990
Autor:
J. R. Davila, M-J Sobrido, Conceição Bettencourt, Orr Shomroni, Marianna R. Bevova, Jose Lopez-Sendon, Beatriz Quintáns, I. Bakker, Peter Heutink, Juan García-Caldentey, J. G. de Yebenes, Patrizia Rizzu
Publikováno v:
Clinical Genetics. 85:154-158
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. Although mutations in the SPAST gene explai
Autor:
W. van Mechelen, Patrizia Rizzu, Danielle Posthuma, Thais S. Rizzi, Matthijs Verhage, Erik A. Sistermans, Jan Berend Deijen, Gea Beunders, J.W.R. Twisk, Peter Heutink, Hanne Meijers-Heijboer
Publikováno v:
Genes, Brain and Behavior. 11:767-771
Intellectual disability (ID) is an unresolved health care problem with a worldwide prevalence rate of 2–3%. For many years, research into the genetic causes of ID and related disorders has mainly focused on chromosomal abnormalities or X-linked gen
Autor:
Peter Heutink, David J. Burn, Bernhard Landwehrmeyer, J. C. van Swieten, S. Wagner, K. A. Frey, Zygmunt Jamrozik, T. Gasser, Günter U. Höglinger, Hans A. Kretzschmar, D. Caparros-Lefebvre, A. Saint-Raymond, Zbigniew K. Wszolek, Jan Kassubek, T. Reum, Markus Otto, Markus Tolnay, A. Kazantsev, Wolfgang H. Oertel, J. J. Lucas, John C. Steele, Stacey Melquist, M. T. Vanier, Dominic C. Paviour, Anthony E. Lang, Eva Maria Mandelkow, Jean Paul G. Vonsattel, Irene Litvan, Hayrettin Tumani, Albert C. Ludolph, Patrick L. McGeer, Kurt A. Jellinger, J. G. de Yebenes, E. M. Mandelkow
Publikováno v:
Ludolph, A C, Kassubek, J, Landwehrmeyer, B G, Mandelkow, E, Mandelkow, E M, Burn, D J, Caparros-Lefebvre, D, Frey, K A, Yebenes, J G, Gasser, T, Heutink, P, Hoglinger, G, Jamrozik, Z, Jellinger, K A, Kazantsev, A, Kretzschmar, H, Lang, A E, Litvan, I, Lucas, J J, McGeer, P L, Melquist, S, Oertel, W, Otto, M, Paviour, D, Reum, T, Saint-Raymond, A, Steele, J C, Tolnay, M, Tumani, H, van Swieten, J C, Vanier, M T, Vonsattel, J P, Wagner, S & Wszolek, Z K 2009, ' Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options ', European Journal of Neurology, vol. 16, no. 3, pp. 297-309 . https://doi.org/10.1111/j.1468-1331.2008.02513.x
European Journal of Neurology, 16(3), 297-309. Wiley-Blackwell
European Journal of Neurology, 16(3), 297-309. Wiley-Blackwell
Tauopathies with parkinsonism represent a spectrum of disease entities unified by the pathologic accumulation of hyperphosphorylated tau protein fragments within the central nervous system. These pathologic characteristics suggest shared pathogenetic
Autor:
Esther Brusse, John C. van Swieten, Inge de Koning, Ben A. Oostra, Peter Heutink, Anneke Maat-Kievit
Publikováno v:
Movement Disorders. 21:396-401
Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA-phenotype (SCA27) associated with a F145S mutation in the fibroblast g
Autor:
Esther van Herpen, Dennis Dooijes, Rob Willemsen, Guido J. Breedveld, Michel Goedert, Peter Heutink, Wouter Kamphorst, Lies-Anne Serverijnen, Sonia M. Rosso, Raoul van de Graaf, R. Anthony Crowther, Danielle Majoor-Krakauer, Johan M. Kros, Hirotaka Yoshida, John C. van Swieten, Rivka Ravid
Publikováno v:
Annals of Neurology. 54:573-581
Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here, we describe two Dutch families with familial frontotemporal dementia associated with the novel missense mutation L315R in exon 11 of tau.