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by Ferrari, Raffaele, PhD and Hernandez, Dena G, MSc and Nalls, Michael A, PhD and Rohrer, Jonathan D, PhD and Ramasamy, Adaikalavan, PhD and Kwok, John B J, PhD and Dobson-Stone, Carol, PhD and Brooks, William S, MBBS and Schofield, Peter R, Prof and Halliday, Glenda M, Prof and Hodges, John R, Prof and Piguet, Olivier, PhD and Bartley, Lauren, MSc and Thompson, Elizabeth, MD and Haan, Eric, Prof and Hernández, Isabel, MD and Ruiz, Agustín, MD and Boada, Mercè, MD and Borroni, Barbara, MD and Padovani, Alessandro, Prof and Cruchaga, Carlos, PhD and Cairns, Nigel J, Prof and Benussi, Luisa, PhD and Binetti, Giuliano, MD and Ghidoni, Roberta, PhD and Forloni, Gianluigi, PhD and Galimberti, Daniela, PhD and Fenoglio, Chiara, PhD and Serpente, Maria, PhD and Scarpini, Elio, MD and Clarimón, Jordi, PhD and Lleó, Alberto, MD and Blesa, Rafael, MD and Waldö, Maria Landqvist, MD and Nilsson, Karin, PhD and Nilsson, Christer, PhD and Mackenzie, Ian R A, Prof and Hsiung, Ging-Yuek R, MD and Mann, David M A, Prof and Grafman, Jordan, Prof and Morris, Christopher M, PhD and Attems, Johannes, Prof and Griffiths, Timothy D, Prof and McKeith, Ian G, Prof and Thomas, Alan J, Prof and Pietrini, P, Prof and Huey, Edward D, MD and Wassermann, Eric M, MD and Baborie, Atik, MD and Jaros, Evelyn, PhD and Tierney, Michael C, MSc and Pastor, Pau, MD and Razquin, Cristina, PhD and Ortega-Cubero, Sara, MD and Alonso, Elena, BSc and Perneczky, Robert, MD and Diehl-Schmid, Janine, MD and Alexopoulos, Panagiotis, MD and Kurz, Alexander, MD and Rainero, Innocenzo, MD and Rubino, Elisa, MD and Pinessi, Lorenzo, Prof and Rogaeva, Ekaterina, PhD and St George-Hyslop, Peter, MD and Rossi, Giacomina, PhD and Tagliavini, Fabrizio, MD and Giaccone, Giorgio, MD and Rowe, James B, PhD and Schlachetzki, Johannes C M, MD and Uphill, James, BSc and Collinge, John, Prof and Mead, Simon, Prof and Danek, Adrian, MD and Van Deerlin, Vivianna M, PhD and Grossman, Murray, Prof and Trojanowski, John Q, Prof and van der Zee, Julie, PhD and Deschamps, William, MSc and Van Langenhove, Tim, MD and Cruts, Marc, PhD and Van Broeckhoven, Christine, Prof and Cappa, Stefano F, Prof and Le Ber, Isabelle, MD and Hannequin, Didier, Prof and Golfier, Véronique, MD and Vercelletto, Martine, MD and Brice, Alexis, MD and Nacmias, Benedetta, PhD and Sorbi, Sandro, Prof and Bagnoli, Silvia, PhD and Piaceri, Irene, PhD and Nielsen, Jørgen E, MD and Hjermind, Lena E, MD and Riemenschneider, Matthias, Prof and Mayhaus, Manuel, PhD and Ibach, Bernd, PhD and Gasparoni, Gilles, PhD and Pichler, Sabrina, MSc and Gu, Wei, PhD and Rossor, Martin N, Prof and ... and Lund University and Psychiatry (Lund) and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Psykiatri, Lund and Lunds universitet
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Journal Article
Neurology, ISSN 0028-3878, 03/2012, Volume 78, Issue 10, pp. 690 - 695
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The... 
HOMOZYGOSITY | ALLELE | OF-ONSET | GENE | LENGTH | MUTATION | CHROMOSOMES | CLINICAL NEUROLOGY | TRINUCLEOTIDE REPEAT | Humans | Age of Onset | Alleles | Huntington Disease - genetics | Adult | Female | Genotype | Huntington Disease - diagnosis | Male | Trinucleotide Repeat Expansion | 164
Journal Article
by Zhang, Ming and Ferrari, Raffaele and Tartaglia, Maria Carmela and Keith, Julia and Surace, Ezequiel I and Wolf, Uri and Sato, Christine and Grinberg, Mark and Liang, Yan and Xi, Zhengrui and Dupont, Kyle and McGoldrick, Philip and Weichert, Anna and McKeever, Paul M and Schneider, Raphael and McCorkindale, Michael D and Manzoni, Claudia and Rademakers, Rosa and Graff-Radford, Neill R and Dickson, Dennis W and Parisi, Joseph E and Boeve, Bradley F and Petersen, Ronald C and Miller, Bruce L and Seeley, William W and van Swieten, John C and van Rooij, Jeroen and Pijnenburg, Yolande and van der Zee, Julie and Van Broeckhoven, Christine and Le Ber, Isabelle and Van Deerlin, Vivianna and Suh, EunRan and Rohrer, Jonathan D and Mead, Simon and Graff, Caroline and Öijerstedt, Linn and Pickering-Brown, Stuart and Rollinson, Sara and Rossi, Giacomina and Tagliavini, Fabrizio and Brooks, William S and Dobson-Stone, Carol and Halliday, Glenda M and Hodges, John R and Piguet, Olivier and Binetti, Giuliano and Benussi, Luisa and Ghidoni, Roberta and Nacmias, Benedetta and Sorbi, Sandro and Bruni, Amalia C and Galimberti, Daniela and Scarpini, Elio and Rainero, Innocenzo and Rubino, Elisa and Clarimon, Jordi and Lleó, Alberto and Ruiz, Agustin and Hernández, Isabel and Pastor, Pau and Diez-Fairen, Monica and Borroni, Barbara and Pasquier, Florence and Deramecourt, Vincent and Lebouvier, Thibaud and Perneczky, Robert and Diehl-Schmid, Janine and Grafman, Jordan and Huey, Edward D and Mayeux, Richard and Nalls, Michael A and Hernandez, Dena and Singleton, Andrew and Momeni, Parastoo and Zeng, Zhen and Hardy, John and Robertson, Janice and Zinman, Lorne and Rogaeva, Ekaterina and Int FTD-Genomics Consortium IFGC and International FTD-Genomics Consortium (IFGC)
Brain, ISSN 0006-8950, 10/2018, Volume 141, Issue 10, pp. 2895 - 2907
Journal Article
by Swarup, Vivek and Hinz, Flora I and Rexach, Jessica E and Noguchi, Ken-ichi and Toyoshiba, Hiroyoshi and Oda, Akira and Hirai, Keisuke and Sarkar, Arjun and Seyfried, Nicholas T and Cheng, Chialin and Haggarty, Stephen J and Ferrari, Raffaele and Rohrer, Jonathan D and Ramasamy, Adaikalavan and Hardy, John and Hernandez, Dena G and Nalls, Michael A and Singleton, Andrew B and Kwok, John B. J and Dobson-Stone, Carol and Brooks, William S and Schofield, Peter R and Halliday, Glenda M and Hodges, John R and Piguet, Olivier and Bartley, Lauren and Thompson, Elizabeth and Haan, Eric and Hernández, Isabel and Ruiz, Agustín and Boada, Mercè and Borroni, Barbara and Padovani, Alessandro and Cairns, Nigel J and Cruchaga, Carlos and Binetti, Giuliano and Ghidoni, Roberta and Benussi, Luisa and Forloni, Gianluigi and Albani, Diego and Galimberti, Daniela and Fenoglio, Chiara and Serpente, Maria and Scarpini, Elio and Clarimón, Jordi and Lleó, Alberto and Blesa, Rafael and Waldö, Maria Landqvist and Nilsson, Karin and Nilsson, Christer and Mackenzie, Ian R. A and Hsiung, Ging-Yuek R and Mann, David M. A and Grafman, Jordan and Morris, Christopher M and Attems, Johannes and Griffiths, Timothy D and McKeith, Ian G and Thomas, Alan J and Jaros, Evelyn and Pietrini, Pietro and Huey, Edward D and Wassermann, Eric M and Tierney, Michael C and Baborie, Atik and Pastor, Pau and Ortega-Cubero, Sara and Razquin, Cristina and Alonso, Elena and Perneczky, Robert and Diehl-Schmid, Janine and Alexopoulos, Panagiotis and Kurz, Alexander and Rainero, Innocenzo and Rubino, Elisa and Pinessi, Lorenzo and Rogaeva, Ekaterina and George-Hyslop, Peter St and Rossi, Giacomina and Tagliavini, Fabrizio and Giaccone, Giorgio and Rowe, James B and Schlachetzki, Johannes C. M and Uphill, James and Collinge, John and Mead, Simon and Danek, Adrian and Van Deerlin, Vivianna M and Grossman, Murray and Trojanowski, John Q and Pickering-Brown, Stuart and Momeni, Parastoo and van der Zee, Julie and Cruts, Marc and Van Broeckhoven, Christine and Cappa, Stefano F and Leber, Isabelle and Brice, Alexis and Hannequin, Didier and Golfier, Véronique and ... and Int Frontotemporal Dementia Gen and International Frontotemporal Dementia Genomics Consortium
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, pp. 152 - 164
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 3107 - 3120
Parkinsonism and attention deficit hyperactivity disorder (ADHD) are widespread brain disorders that involve disturbances of dopaminergic signaling. The... 
MEDICINE, RESEARCH & EXPERIMENTAL | SEQUENCE VARIATION | C-TERMINUS | GENE | DEFICIT HYPERACTIVITY DISORDER | DISEASE | NEUROTRANSMITTER SODIUM SYMPORTERS | BINDING-SITE | MONOAMINE TRANSPORTERS | CONFORMATIONAL DYNAMICS | OUTWARD-OPEN | Xenopus | Dopamine Plasma Membrane Transport Proteins - metabolism | Brain - diagnostic imaging | Parkinsonian Disorders - complications | Humans | Tomography, Emission-Computed, Single-Photon | Molecular Sequence Data | Dopamine Plasma Membrane Transport Proteins - chemistry | Male | Positron-Emission Tomography | Mutation, Missense | Sodium - metabolism | Brain - metabolism | Parkinsonian Disorders - metabolism | Attention Deficit Disorder with Hyperactivity - metabolism | DNA Mutational Analysis | HEK293 Cells | Attention Deficit Disorder with Hyperactivity - complications | Adult | Female | Parkinsonian Disorders - genetics | Dopamine - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Oocytes - metabolism | Mutant Proteins - genetics | Models, Molecular | Recombinant Proteins - chemistry | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Sequence Homology, Amino Acid | Animals | Attention Deficit Disorder with Hyperactivity - genetics | Pedigree | Mutant Proteins - chemistry | Protein Conformation | Amino Acid Substitution | Cohort Studies | Parkinson's disease | Genetic variation | Attention-deficit hyperactivity disorder | Development and progression | Genetic aspects | Identification and classification | Membrane proteins | Attention deficit disorder | Autism | Medical research | Mutation
Journal Article
Neurology: Neuroimmunology & Neuroinflammation, ISSN 2332-7812, 12/2016, Volume 3, Issue 6, p. e287
OBJECTIVE:To investigate CSF biomarkers of neuroinflammation and neurodegeneration in Huntington disease (HD) gene-expansion carriers compared to controls and... 
Journal Article