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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 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 ...
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Journal Article
PLOS ONE, ISSN 1932-6203, 05/2018, Volume 13, Issue 5, p. e0197975
Journal Article
Journal of Neurology, ISSN 0340-5354, 03/2019, Volume 266, Issue 3, pp. 735 - 744
SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with... 
Hereditary spastic paraplegia | REEP1 | Carpal tunnel syndrome | Polyneuropathy | Nerve conduction studies | SPG31 | DIAGNOSIS | MUTATIONS | SPECTRUM | ASSOCIATION | CLINICAL NEUROLOGY | Phenotypes | Compression | Spasticity | Nervous system | Peripheral neuropathy | Patients | Nerve conduction | Paraplegia | Autonomic nervous system | Paralysis | Spastic paraplegia | EMG
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... 
NEUROTRANSMITTER | MEDICINE, RESEARCH & EXPERIMENTAL | SODIUM | SEQUENCE VARIATION | C-TERMINUS | GENE | DISEASE | MONOAMINE TRANSPORTERS | CONFORMATIONAL DYNAMICS | RELEASE | 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 | Autism | Medical research | Mutation | Attention Deficit Hyperactivity Disorder
Journal Article
by Reilmann, Ralf and McGarry, Andrew and Grachev, Igor D and Savola, Juha-Matti and Borowsky, Beth and Eyal, Eli and Gross, Nicholas and Langbehn, Douglas and Schubert, Robin and Wickenberg, Anna Teige and Papapetropoulos, Spyros and Hayden, Michael and Squitieri, Ferdinando and Kieburtz, Karl and Landwehrmeyer, G Bernhard and Agarwal, Pinky and Anderson, Karen E and Aziz, Nasir A and Azulay, Jean-Phillippe and Bachoud-Levi, Anne C and Barker, Roger and Bebak, Agnieszka and Beuth, Markus and Biglan, Kevin and Blin, Stephanie and Bohlen, Stefan and Bonelli, Raphael and Caldwell, Sue and Calvas, Fabienne and Carlos, Jonielyn and Castagliuolo, Simona and Chong, Terrence and Chua, Phyllis and Coleman, Allison and Corey-Bloom, Jody and Cousins, Rebecca and Craufurd, David and Davison, Jill and Decorte, Eric and De Michele, Giuseppe and Dornhege, Laura and Feigin, Andrew and Gallehawk, Stephanie and Gauteul, Pascale and Gonzales, Carey and Griffith, Jane and Gustov, Alexander and Guttman, Mark and Heim, Beatrix and Heller, Hope and Hjermind, Lena and Illarioshkin, Sergey and Ivanko, Larry and Jaynes, Jessica and Jenckes, Mollie and Kaminski, Barbara and Kampstra, Anne and Konkel, Agnieszka and Kopishinskaya, Svetlana and Krystkowiak, Pierre and Komati, Suresh K and Kwako, Alexander and Lakoning, Stefan and Latipova, Guzal and Leavitt, Blair and Loy, Clement and MacFarlane, Cheryl and Madsen, Louise and Marder, Karen and Mason, Sarah and Mendis, Neila and Mendis, Tilak and Nemeth, Andrea and Nevitt, Louise and Norris, Virginia and O'Neill, Christine and Olivier, Audrey and Orth, Michael and Owens, Ashley and Panegyres, Peter and Perlman, Susan and Preston, Joy and Priller, Josef and Puch, Alicja and Quarrell, Oliver and Ragosta, Domenica and Rialland, Amandine and Rickards, Hugh and Romoli, Anna M and Ross, Christopher and Rosser, Anne and Rudzinska, Monika and Russo, Cinzina V and Saft, Carsten and Segro, Victoria and Seppi, Klaus and Shannon, Barbara and Shprecher, David and Simonin, Clemence and Skitt, Zara and ... and European Huntington's Disease Network and Huntington Study Group investigators and European Huntingtons Dis Network and Huntington Study Grp Investigator
The Lancet Neurology, ISSN 1474-4422, 02/2019, Volume 18, Issue 2, pp. 165 - 176
Journal Article