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2023
1 Oender, Demet; Faber, Jennifer; Wilke, Carlo; Schaprian, Tamara; Lakghomi, Asadeh; Mengel, David; Schöls, Ludger; Traschütz, Andreas; Fleszar, Zofia; Dufke, Claudia; Vielhaber, Stefan; Machts, Judith; Giordano, Ilaria; Grobe-Einsler, Marcus; Klopstock, Thomas; Stendel, Claudia; Boesch, Sylvia; Nachbauer, Wolfgang; Timmann-Braun, Dagmar; Thieme, Andreas Gustafsson; Kamm, Christoph; Dudesek, Ales; Tallaksen, Chantal Marie Elisabeth; Wedding, Iselin Marie; Filla, Alessandro; Schmid, Matthias; Synofzik, Matthis; Klockgether, Thomas.
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia. Movement Disorders 2023 s. 654-664
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2021
2 Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, S; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Durr, Alexandra; Stevanin, Giovanni; Brice, Alexis; Darios, Frédéric; Forlani, Sylvie; Site, Pitié-Salpêtrière; Banneau, Guillaume; Cazeneuve, Cécile; Charles, Perrine; Duyckaerts, C.; Fontaine, Bertrand; Azulay, Jean-Philippe; Boesfplug-Tanguy, Odile; Goizet, Cyril; Hannequin, Didier; Hazan, Jamilé; Burgo, Andrea; Verny, Christophe; Koenig, Michel; Labauge, Pierre; Marelli, Cecilia; N’guyen, Karine; Rodriguez, Diana; Belarbi, Soraya; Hamri, Abdelmadjid; Tazir, Meriem; Boesch, Sylvia; Pandolfo, Massimo; Laura, Jardim; Guergueltcheva, Velina; Tournev, Ivalo; Pedraza Linarès, Olga Lucia; Nielsen, Jørgen E.; Svenstrup, Kirsten; Zaki, Maha; Bauer, Peter; Schöls, Lüdger; Schüle, Rebecca; Lossos, A; Bassi, Maria-Teresa; Basso, Manuela; Bertini, Enrico; Brusco, Alfredo; Casali, Carlo; Casari, G; Criscuolo, Chiara; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo M.; Valente, Enza Maria; Vavla, Marinela; Vazza, Giovanni; Megarbane, André; Benomar, Ali; Kremer, Berry; Van Roon-Mom, Willeke; Roxburgh, Richard; Erichsen, Anne Kjersti; Tallaksen, Chantal; Alonso, Isabel; Coutinho, Paula; Loureiro, José Léal; Sequeiros, Jorge; Salih, Mustapha; Kostic, Vladimir S; Rouco Axpe, Idoia; Elsayed, Liena; Paucar, Martin Arce; Roumani, Samir; Bing-Wen, Soong; Reid, Evan; Suran, Nethisinghe; Warner, Thomas; Wood, Nicholas.
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x). Genetics in Medicine 2021 ;Volum 23.(10) s. 2021-
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3 Tallaksen, Chantal; Narverud, Sverre F..
Shoshin beriberi. Tidsskrift for Den norske legeforening 2021 ;Volum 141.(6) s. 1-2
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2020
4 Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Østergaard, Elsebet; de Coo, Irenaeus F.M.; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. The Journal of Inherited Metabolic Disease (JIMD) 2020 ;Volum 43.(4) s. 726-736
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5 Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence.
The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology 2020 ;Volum 7.(10) s. 2019-2025
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6 Hikmat, Omar; Vederhus, Bente Johanne; Benestad, Merete Røineland; Engeset, Ida Malén Eun; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Elgen, Irene Bircow; Bindoff, Laurence.
Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print) 2020 ;Volum 55. s. 95-99
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7 Prestsæter, Sjur; Koht, Jeanette; Lamari, Foudil; Tallaksen, Chantal; Hoven, Stian Tobias Juel; Vigeland, Magnus Dehli; Selmer, Kaja Kristine; Rydning, Siri Lynne.
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5. Journal of the Neurological Sciences 2020 ;Volum 419:117211. s. 1-4
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8 Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergen, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Darios, Frédéric; Forlani, Sylvie; Site, Pitié-Salpêtrière; Banneau, Guillaume; Cazeneuve, Cécile; Fontaine, Bertrand; Azulay, Jean-Philippe; Boesfplug-Tanguy, Odile; Hannequin, Didier; Hazan, Jamilé; Burgo, Andrea; Verny, Christophe; Koenig, Michel; Labauge, Pierre; Rodriguez, Diana; Belarbi, Soraya; Hamri, Abdelmadjid; Tazir, Meriem; Boesch, Sylvia; Pandolfo, Massimo; Laura, Jardim; Guergueltcheva, Velina; Tournev, Ivalo; Pedraza Linarès, Olga Lucia; Nielsen, Jørgen E.; Svenstrup, Kirsten; Zaki, Maha; Bauer, Peter; Schöls, Lüdger; Schüle, Rebecca; Lossos, Alexander; Bassi, Maria-Teresa; Basso, Manuela; Bertini, Enrico; Brusco, Alfredo; Casali, Carlo; Casari, Giorgio; Criscuolo, Chiara; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo M.; Valente, Enza Maria; Vavla, Marinela; Vazza, Giovanni; Megarbane, André; Benomar, Ali; Kremer, Berry; Van Roon-Mom, Willeke; Roxburgh, Richard; ERICHSEN, ANNE KJERSTI; Tallaksen, Chantal; Alonso, Isabel; Coutinho, Paula; Loureiro, José Léal; Sequeiros, Jorge; Salih, Mustapha; Kostic, Vladimir S; Rouco Axpe, Idoia; Elsayed, Liena; Paucar, Martin Arce; Roumani, Samir; Bing-Wen, Soong; Reid, Evan; Suran, Nethisinghe; Warner, Thomas; Wood, Nicholas.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in Medicine 2020 ;Volum 22.(11) s. 1851-1862
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2019
9 Lipka, Alexander F.; Boldingh, Marion; van Zwet, Erik W.; Schreurs, Marco W.J; Kuks, Jan B.M.; Tallaksen, Chantal; Titulaer, Maarten J.; Verschuuren, Jan J.G.M..
Long‐term follow‐up, quality of life, and survival of patients with Lambert‐Eaton myasthenic syndrome. Neurology 2019 ;Volum 94.(5) s. e511-e520
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10 Rydning, Siri Lynne; Koht, Jeanette; Sheng, Ying; Sowa, Piotr; Hjorthaug, Hanne Sagsveen; Wedding, Iselin Marie; ERICHSEN, ANNE KJERSTI; Hynås, Inger Anette; Backe, Paul Hoff; Tallaksen, Chantal; Vigeland, Magnus Dehli; Selmer, Kaja Kristine.
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain 2019 ;Volum 142:e12.(4) s. 1-5
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11 Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal; Bindoff, Laurence; Koht, Jeanette.
Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias 2019 ;Volum 6:2. s. 1-5
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2018
12 Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A.; Østern, Rune André Helland; Nebuchennykh, Maria; Braathen, Geir J.; Fagerheim, Toril.
Clinical characteristics, minimum prevalence and spectrum of SH3TC2 mutations in Norway. Peripheral Nerve Society Meeting; 2018-07-21 - 2018-07-25
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13 Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A.; Østern, Rune André Helland; Nebuchennykh, Maria; Braathen, Geir Julius; Fagerheim, Toril.
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence. Neuromuscular Disorders 2018 ;Volum 28.(8) s. 639-645
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14 Coutelier, Marie; Hammer, Monia B.; Stevanin, Giovanni; Monin, Marie-Lorraine; Davoine, Claire-Sophie; Mochel, Fanny; Labauge, Pierre; Ewenczyk, Claire; Ding, Jinhui; Gibbs, J Raphael; Hannequin, Didier; Melki, Judith; Toutain, Annick; Laugel, Vincent; Forlani, Sylvie; Charles, Perrine; Broussolle, Emmanuel; Thobois, Stéphane; Afenjar, Alexandra; Anheim, Mathieu; Calvas, Patrick; Castelnovo, Giovanni; de Broucker, Thomas; Vidailhet, Marie; Moulignier, Antoine; Ghnassia, Robert T.; Tallaksen, Chantal; Mignot, Cyril; Goizet, Cyril; Le Ber, Isabelle; Ollagnon-Roman, Elisabeth; Pouget, Jean; Brice, Alexis; Singleton, Andrew; Durr, Alexandra.
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurology 2018 ;Volum 75.(5) s. 591-599
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15 Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence.
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia 2018 ;Volum 59.(8) s. 1595-1602
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16 Parodi, Livia; Fenu, Silvia; Barbier, Mathieu; Banneau, Guillaume; Duyckaerts, Charles; du Montcel, Sophie Tezenas; Monin, Marie-Lorraine; Said, Samia Ait; Guegan, Justine; Tallaksen, Chantal; Sablonniere, Bertrand; Brice, Alexis; Stevanin, Giovanni; Depienne, Christel; Durr, Alexandra.
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain 2018 ;Volum 141.(12) s. 3331-3342
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17 Rydning, Siri Lynne; Dudesek, Ales; Rimmele, Florian; Funke, Claudia; Krüger, Stefanie; Biskup, Saskia; Vigeland, Magnus Dehli; Hjorthaug, Hanne Sagsveen; Sejersted, Yngve; Tallaksen, Chantal; Selmer, Kaja Kristine; Kamm, Christoph.
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. European Journal of Neurology 2018 ;Volum 25.(7) s. 943-948
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18 Samuelsson, Kristin; Radovic, Ana; Press, Rayomond; Auranen, Mari; Ylikallio, Emil; Tyynismaa, Henna; Kärppä, Mikko; Veteläinen, Matilda; Peltola, Niina; Mellgren, Svein Ivar; Mygland, Åse; Tallaksen, Chantal; Andersen, Henning; Terkelsen, Astrid Juhl; Fontain, Freja; Hietaharju, Aki.
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy. Muscle and Nerve 2018 ;Volum 59.(3) s. 354-357
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19 Sjaastad, Ottar; Blau, Nenad; Rydning, Siri Lynne; Peters, Verena; Rødningen, Olaug Kristin; Stray-Pedersen, Asbjørg; Krossnes, Bård Kronen; Tallaksen, Chantal; Koht, Jeanette.
Homocarnosinosis: A historical update and findings in the SPG11 gene. Acta Neurologica Scandinavica 2018 ;Volum 138.(3) s. 245-250
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2017
20 Boldingh, Marion; Maniaol, Angelina; Brunborg, Cathrine; Dekker, Luuk; Lipka, Alexander F.; Niks, Erik Harmen; Verschuuren, Jan; Tallaksen, Chantal.
Prevalence and clinical aspects of immigrants with myasthenia gravis in northern Europe. Muscle and Nerve 2017 ;Volum 55.(6) s. 819-827
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21 Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; MacHts, Judith; Schols, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin Marie; Boesch, Sylvia; Eigentler, Andreas; Van De Warrenburg, Bart; Van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas Du Montcel, Sophie; Klockgether, Thomas.
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology 2017 ;Volum 89.(10) s. 1043-1049
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22 Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence.
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (Journal of Inherited Metabolic Disease, (2017), 40, 6, (861-866), 10.1007/s10545-017-0084-9). The Journal of Inherited Metabolic Disease (JIMD) 2017 ;Volum 41.(1) s. 153-153
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23 Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence.
The presence of anaemia negatively influences survival in patients with POLG disease. The Journal of Inherited Metabolic Disease (JIMD) 2017 ;Volum 40.(6) s. 861-866
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24 Iqbal, Zafar; Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Pihlstrøm, Lasse; Rengmark, Aina Sylvia Haugen; Henriksen, Sandra Pilar; Tallaksen, Chantal; Toft, Harald Mathias Strøm.
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLOS ONE 2017 ;Volum 12:e0174667.(3) s. 1-19
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25 Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje Haug; Vigeland, Magnus Dehli; Bjørås, Magnar; Tallaksen, Chantal; Selmer, Kaja Kristine.
Corrigendum: Novel UCHL1 mutations reveal new insights into ubiquitin processing. Human Molecular Genetics 2017 ;Volum 26.(6) s. 1217-1218
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26 Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje Haug; Vigeland, Magnus Dehli; Bjørås, Magnar; Tallaksen, Chantal; Selmer, Kaja Kristine.
Novel UCHL1 mutations reveal new insights into ubiquitin processing. Human Molecular Genetics 2017 ;Volum 26.(6) s. 1031-1040
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27 Tallaksen, Chantal; Müller, Ulrich.
Cancer and neurodegeneration: Time to move beyond Janus?. Neurology 2017 ;Volum 88.(12) s. 1106-1107
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2016
28 Arntzen, Kjell Arne; Høyer, Helle; Ingebrigtsen, Monica; Busk, Øyvind Løvold; Holla, Øystein Lunde; Tveten, Kristian; Hilmarsen, Hilde T; Ørstavik, Kristin; Tallaksen, Chantal; Nebuchennykh, Maria; Jonsrud, Christoffer; Braathen, Geir; Fagerheim, Toril.
Prevalence and spectrum of SH3TC2 mutations in Norway. European Society of Human Genetics; 2016-05-21 - 2016-05-24
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29 Boldingh, Marion; Maniaol, Angelina; Brunborg, Cathrine; Weedon-Fekjær, Harald; Verschuuren, Jan J. G. M; Tallaksen, Chantal.
Increased risk for clinical onset of myasthenia gravis during the postpartum period. Neurology 2016 ;Volum 87.(20) s. 2139-2145
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30 Gilhus, Nils Erik; Kerty, Emilia; Løseth, Sissel; Mygland, Åse; Tallaksen, Chantal.
Myasthenia gravis - diagnostikk og behandling. Tidsskrift for Den norske legeforening 2016 ;Volum 136.(12/13) s. 1089-1094
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31 Horn, Morten Andreas; Müller, Karin Brigitte; Ferdinandusse, Sacha; Jørum, Ellen; Mellgren, Svein Ivar; Retterstøl, Lars; Wanders, Ronald J.A.; Tallaksen, Chantal.
Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report. Clinical Case Reports 2016 ;Volum 4.(2) s. 177-181
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32 Jahic, Amir; ERICHSEN, ANNE KJERSTI; Deufel, Thomas; Tallaksen, Chantal; Beetz, Christian.
A polymorphic Alu insertion that mediates distinct disease-associated deletions. European Journal of Human Genetics 2016 ;Volum 24.(9) s. 1371-1374
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33 Koht, Jeanette; Løstegaard, Sven Olav; Wedding, Iselin Marie; Vidailhet, Marie; Louha, Malek; Tallaksen, Chantal.
Benign hereditary chorea, not only chorea: a family case presentation. Cerebellum & ataxias 2016 ;Volum 3.
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34 Paap, Brigitte K.; Roeske, Sandra; Durr, Alexandra; Schöls, Ludger; Ashizawa, Tetsuo; Boesch, Sylvia; Bunn, Lisa M.; Delatycki, Martin B.; Giunti, Paola; Lehéricy, Stéphane; Mariotti, Caterina; Melegh, Jörg; Pandolfo, Massimo; Tallaksen, Chantal Marie Elisabeth; Timmann, Dagmar; Tsuji, Shoji; Schulz, Jörg Bela; van de Warrenburg, Bart P.; Klockgether, Thomas.
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement Disorders Clinical Practice 2016 ;Volum 3.(3) s. 230-240
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35 Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Chawla, Maninder Singh; Øye, Ane-Marte; Sheng, Ying; Vigeland, Magnus Dehli; Selmer, Kaja Kristine; Tallaksen, Chantal.
A founder mutation p.H701P identified as a major cause of SPG7 in Norway. European Journal of Neurology 2016 ;Volum 23.(4) s. 763-771
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36 Simonsen, Cecilia Smith; Celius, Elisabeth Gulowsen; Brunborg, Cathrine; Tallaksen, Chantal; Eriksen, Erik Fink; Holmøy, Trygve; Moen, Stine Marit.
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study. BMC Neurology 2016 ;Volum 16. s. -
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37 Stergiou, Christos; Lazaridis, Konstantinos; Zouvelou, Vasiliki; Tzartos, John; Mantegazza, Renato; Antozzi, Carlo; Andreetta, Francesca; Evoli, Amelia; Deymeer, Feza; Saruhan-Direskeneli, Güher; Durmuş, Hacer; Brenner, Talma; Vaknin, Adi; Berrih-Aknin, Sonia; Behin, Anthony; Sharshar, Tarek; De Baets, Marc H.; Losen, Mario; Martínez-Martínez, Pilar; Kleopa, Kleopas A.; Zamba-Papanicolaou, Eleni; Kyriakides, Theodoros; Kostera-Pruszczyk, Anna; Szczudlik, Piotr; Szyluk, Beata; Lavrnic, Dragana; Basta, Ivana; Peric, Sanja; Tallaksen, Chantal; Maniaol, Angelina; Gilhus, Nils Erik; Casasnovas Pons, Carlos; Pitha, Jan V.; Jakubíková, Michala; Hanisch, Frank; Bogomolovas, Julius; Labeit, Dietmar; Labeit, Sigfried Bernhard; Tzartos, Socrates J..
Titin antibodies in "seronegative" myasthenia gravis - A new role for an old antigen. Journal of Neuroimmunology 2016 ;Volum 292. s. 108-115
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2015
38 Boldingh, Marion Ingeborg; Dekker, Luuk; Maniaol, Angelina; Brunborg, Cathrine; Lipka, Alexander F.; Niks, Erik H.; Verschuuren, Jan J.G.M.; Tallaksen, Chantal.
An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts. Health and Quality of Life Outcomes 2015 ;Volum 13:115.
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39 Boldingh, Marion Ingeborg; Maniaol, Angelina; Brunborg, Cathrine; Dekker, Luuk; Heldal, Anne Taraldsen; Lipka, Alexander F.; Popperud, Trine Haug; Niks, Erik H.; Verschuuren, Jan J.G.M.; Tallaksen, Chantal.
Geographical distribution of myasthenia gravis in Northern Europe - Results from a population-based study from two countries. Neuroepidemiology 2015 ;Volum 44.(4) s. 221-231
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40 Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M.; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frédéric; Loureiro, José L.; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015 ;Volum 138.(8) s. 2191-2205
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41 Horn, Morten Andreas; Retterstøl, Lars; Abdelnoor, Michael; Skjeldal, Ola; Tallaksen, Chantal.
Age-dependent penetrance among females with X-linked adrenoleukodystrophy. Brain 2015 ;Volum 138.(1) s. e325-
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42 Monin, Marie-Lorraine; Tezenas du Montcel, Sophie; Marelli, Cecilia; Cazeneuve, Cecile; Charles, Perrine; Tallaksen, Chantal Marie Elisabeth; Forlani, Sylvie; Stevanin, Giovanni; Brice, Alexis; Durr, Alexandra.
Survival and severity in dominant cerebellar ataxias. Annals of clinical and translational neurology 2015 ;Volum 2.(2) s. 202-207
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43 Tsonis, Anastasios I.; Zisimopoulou, Paraskevi; Lazaridis, Konstantinos N.; Tzartos, John; Matsigkou, Eirini; Zouvelou, Vasiliki; Mantegazza, Renato; Antozzi, Carlo; Andreetta, Francesca; Evoli, Amelia; Deymeer, Feza; Saruhan-Direskeneli, Güher; Durmuş, Hacer; Brenner, Talma; Vaknin-Dembinsky, Adi; Berrih-Aknin, Sonia; Behin, Anthony; Sharshar, Tarek; De Baets, Marc H.; Losen, Mario; Martínez-Martínez, Pilar; Kleopa, Kleopas A.; Zamba-Papanicolaou, Eleni; Kyriakides, Theodoros; Kostera-Pruszczyk, Anna; Szczudlik, Piotr; Szyluk, Beata; Lavrnic, Dragana; Basta, Ivana; Perić, Stojan; Tallaksen, Chantal; Maniaol, Angelina; Pons, Carlos Casasnovas; Pitha, Jan V.; Jakubíková, Michala; Hanisch, Frank; Tzartos, Socrates J..
MuSK autoantibodies in myasthenia gravis detected by cell based assay - A multinational study. Journal of Neuroimmunology 2015 ;Volum 284. s. 10-17
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44 Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar; Selmer, Kaja Kristine; Fiskerstrand, Torunn; Knappskog, Per; Berge, Tone; Tallaksen, Chantal.
Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. Orphanet Journal of Rare Diseases 2015 ;Volum 10.(1) s. 1-17
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2014
45 Avidan, Nili; Panse, Rozen Le; Harbo, Hanne Flinstad; Bernasconi, Pia; Poulas, Konstantinos; Ginzburg, Elizabeta; Cavalcante, Paola; Colleoni, Lara; Baggi, Fulvio; Antozzi, Carlo; Truffault, Frederique; Horn-Saban, Shirley; Poschel, Simone; Zagoriti, Zoi; Maniaol, Angelina; Lie, Benedicte Alexandra; Bernard, Isabelle; Saoudi, Abdelhadi; Illes, Zsolt; Pons, Carlos Casasnovas; Melms, Arthur; Tzartos, Socrates; Willcox, Nicholas; Kostera-Pruszczyk, Anna; Tallaksen, Chantal; Mantegazza, Renato; Berrih-Aknin, S.; Miller, Ariel.
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis. Annals of clinical and translational neurology 2014 ;Volum 1.(5) s. 329-339
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46 Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg; ERICHSEN, ANNE KJERSTI; Gude, Einar; Koht, Jeanette; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal; Knappskog, Per; Johansson, Stefan.
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases 2014 ;Volum 9:146.
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47 Horn, Morten Andreas; Nilsen, Kristian Bernhard; Jørum, Ellen; Mellgren, Svein Ivar; Tallaksen, Chantal.
Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy. Neurology 2014 ;Volum 82.(19) s. 1678-1683
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48 Koht, Jeanette; Rengmark, Aina Sylvia Haugen; Opladen, Thomas; Bjørnarå, Kari Anne; Selberg, Tore; Tallaksen, Chantal; Blau, N.; Toft, Mathias.
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurologica Scandinavica 2014 ;Volum 129.(198) s. 7-12
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49 Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos.
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE 2014 ;Volum 9.(1)
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50 Zisimopoulou, P.; Evangelakou, P.; Tzartos, J.; Lazaridis, K.; Zouvelou, V.; Mantegazza, Renato; Antozzi, C.; Andreetta, F.; Evoli, A; Deymeer, F.; Saruhan-Direskeneli, G; Durmus, H.; Brenner, T.; Vaknin, A.; Berrih-Aknin, S.; Cuvelier, M. Frenkian; Stojkovic, T.; DeBaets, M.; Losen, M.; Martinez-Martinez, P.; Kleopa, K.A.; Zamba-Papanicolaou, E.; Kyriakides, Theodoros; Kostera-Pruszczyk, A.; Szczudlik, P.; Szyluk, B.; Lavrnic, D.; Basta, I.; Peric, S.; Tallaksen, Chantal; Maniaol, Angelina; Tzartos, S.J.
A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis. Journal of Autoimmunity 2014 ;Volum 52. s. 139-145
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