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by de Vette, Ivar and Lombardo, Angelo and Berkhout, Ben and Vervoordeldonk, Margriet and Dekkers, Johanna F and Kruisselbrink, Evelien and Vonk, Annelotte M and de Jonge, Hugo R and de Winter, Karin M and de Groot, – and Janssens, Hettie M and Bronsveld, Inez and Nieuwenhuis, Edward E.S and Houwen, Roderick H.J and Vleggaar, Frank P and Escher, Hankje C and Clevers, Hans and van der Ent, Cornelis K and Buckland, Karen and Rivat, Christine and Himoudi, Nourredine and Gilmour, Kimberly and Booth, Claire and Cornetta, Kenneth and Kohn, Don B and Carbonaro, Denise and Paruzynski, Anna and Schmidt, Manfred and Thrasher, Adrian J and Schaffer, David and Hwang, Tae-Ho and Zinn, E and Khaychuk, V and Sarkar, D and Carvalho, L and Pacouret, S and Morris, H and Plovie, E and van Gent, Michiel and Gram, Anna and Boer, Ingrid and Horst, Danielle and Zaldumbide, Arnaud and Hoeben, Rob and Wiertz, Emmanuel and Maring, J and Smits, AM and Ouyang, Hong and Lin, Ying and Wang, Yujuan and Cai, Humim and Li, Gen and Patel, Sherrina and Zhu, Jie and Lin, Danni and Wen, Cindy and Zhu, Jin and Tsaalbi-Shtylik, Anastasia and Martín-Pardillos, Ana and Ferras, Cristina and Verspuy, Johan and Speksnijder, Ewoud and Jansen, Jacob and Peng, Kah Whye and Federspiel, Mark and Naik, Shruthi and Ruiz, Autumn and Lacy, Martha and Dispenzieri, Angela and O'Donovan, Liz and Arzumanov, Andrey A and Rahim, A.A and Burke, D.G and Buckley, S.M and Cullen, E and Mukherji, S and Mills, K and Sirka, E and Herbert, B and Karlsson, S and Hughes, D.A and Mehta, A.B and Howe, S.J and Heales, S and Cooper, J.D and Cheng, S.H and van Til, Niek P and Liang, Q and Stok, M and Wagemaker, G and Reiss, Ulrike M and Tuddenham, Edward G.D and Nienhuis, Arthur W and Davidoff, Andrew M and Meneghini, V and Lattanzi, A and Tiradani, L and Bravo, G and Morena, F and Martino, S and ...
Human Gene Therapy, ISSN 1043-0342, 11/2014, Volume 25, Issue 11, pp. A1 - A121
Journal Article
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Journal Article
by Chelban, Viorica and Wilson, Matthew P and Warman Chardon, Jodi and Vandrovcova, Jana and Zanetti, M. Natalia and Zamba‐Papanicolaou, Eleni and Efthymiou, Stephanie and Pope, Simon and Conte, Maria R and Abis, Giancarlo and Liu, Yo‐Tsen and Tribollet, Eloise and Haridy, Nourelhoda A and Botía, Juan A and Ryten, Mina and Nicolaou, Paschalis and Minaidou, Anna and Christodoulou, Kyproula and Kernohan, Kristin D and Eaton, Alison and Osmond, Matthew and Ito, Yoko and Bourque, Pierre and Jepson, James E. C and Bello, Oscar and Bremner, Fion and Cordivari, Carla and Reilly, Mary M and Foiani, Martha and Heslegrave, Amanda and Zetterberg, Henrik and Heales, Simon J. R and Wood, Nicholas W and Rothman, James E and Boycott, Kym M and Mills, Philippa B and Clayton, Peter T and Houlden, Henry and Kriouile, Yamna and Khorassani, Mohamed El and Aguennouz, Mhammed and Groppa, Stanislav and Marinova Karashova, Blagovesta and Van Maldergem, Lionel and Nachbauer, Wolfgang and Boesch, Sylvia and Arning, Larissa and Timmann, Dagmar and Cormand, Bru and Pérez‐Dueñas, Belen and Di Rosa, Gabriella and Goraya, Jatinder S and Sultan, Tipu and Mine, Jun and Avdjieva, Daniela and Kathom, Hadil and Tincheva, Radka and Banu, Selina and Pineda‐Marfa, Mercedes and Veggiotti, Pierangelo and Ferrari, Michel D and van den Maagdenberg, Arn M J M and Verrotti, Alberto and Marseglia, Giangluigi and Savasta, Salvatore and García‐Silva, Mayte and Ruiz, Alfons Macaya and Garavaglia, Barbara and Borgione, Eugenia and Portaro, Simona and Sanchez, Benigno Monteagudo and Boles, Richard and Papacostas, Savvas and Vikelis, Michail and Rothman, James and Giunti, Paola and Houlden, Henry and Chelban, Viorica and Salpietro, Vincenzo and Oconnor, Emer and Efthymiou, Stephanie and Kullmann, Dimitri and Kaiyrzhanov, Rauan and Sullivan, Roisin and Khan, Alaa Matooq and Yau, Wai Yan and Hostettler, Isabel and Papanicolaou, Eleni Zamba and Dardiotis, Efthymios and Maqbool, Shazia and Ibrahim, Shahnaz and Kirmani, Salman and Rana, Nuzhat Noureen and Atawneh, Osama and Lim, Shen‐Yang and Shaikh, Farooq and Koutsis, George and Breza, Marianthi and Mangano, Salvatore and Scuderi, Carmela and ... and Care4Rare Canada Consortium and the SYNaPS Study Group and Care4Rare Canada Consortium and SYNaPS Study Grp and for the Care4Rare Canada Consortium and the SYNaPS Study Group and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Annals of Neurology, ISSN 0364-5134, 08/2019, Volume 86, Issue 2, pp. 225 - 240
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 1, pp. 54 - 62
Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine... 
Neurology | METABOLITES | TRANSMISSION | INFANTILE PARKINSONISM-DYSTONIA | CSF | NEUROSCIENCE | DISORDERS | TYROSINE-HYDROXYLASE DEFICIENCY | MONOAMINE TRANSPORTERS | CLINICAL NEUROLOGY | Brain - diagnostic imaging | Dystonia - cerebrospinal fluid | Parkinsonian Disorders - cerebrospinal fluid | Tomography, Emission-Computed, Single-Photon - methods | Humans | Child, Preschool | Dopamine Plasma Membrane Transport Proteins - deficiency | Hydroxyindoleacetic Acid - cerebrospinal fluid | Infant | Male | Ocular Motility Disorders - genetics | Dystonia - genetics | Transfection - methods | Parkinsonian Disorders - diagnostic imaging | Female | Parkinsonian Disorders - genetics | Retrospective Studies | Homovanillic Acid - cerebrospinal fluid | Child | Parkinsonian Disorders - physiopathology | Dystonia - physiopathology | Mutation - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Brain - pathology | Ocular Motility Disorders - physiopathology | Dystonia - diagnostic imaging | Cell Line, Transformed | Cohort Studies | Medical colleges | Medical research | Neurosciences | Dopamine | Molecular genetics | Medicine, Experimental | Phenols | Genetic aspects | Biomedical engineering | Pediatrics | Basal ganglia | Congenital defects | Central nervous system diseases | homovanillic acid | Photons | Cerebrospinal fluid | Pyramidal tracts | Drug development | Hereditary diseases | Eye | Hospitals | Computed tomography | Phenotyping | Dopamine transporter | Children | Mutation | Paralysis | Age | Movement disorders | Fast track
Journal Article
Journal Article
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 387, pp. S77 - S77
Abstract Background Dopamine transporter deficiency syndrome (DTDS) is a primary neurotransmitter disorder caused by loss-of-function mutations in SLC6A3 ,... 
Internal Medicine | Medical colleges | Development and progression | Dopamine | Parkinson's disease | Metabolites | Health aspects
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
Journal Article