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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Published in:
2015
By:
- Panagiotakaki, Eleni;
- De Grandis, Elisa;
- Stagnaro, Michela;
- Heinzen, Erin L.;
- Fons, Carmen;
- Sisodiya, Sanjay;
- de Vries, Boukje;
- Goubau, Christophe;
- Weckhuysen, Sarah;
- Kemlink, David;
- Scheffer, Ingrid;
- Lesca, Gaëtan;
- Rabilloud, Muriel;
- Klich, Amna;
- Ramirez-Camacho, Alia;
- Ulate-Campos, Adriana;
- Campistol, Jaume;
- Giannotta, Melania;
- Moutard, Marie-Laure;
- Doummar, Diane
Publication type:
journal article
Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus.
Published in:
2009
By:
- Hallmayer, Joachim;
- Faraco, Juliette;
- Lin, Ling;
- Hesselson, Stephanie;
- Winkelmann, Juliane;
- Kawashima, Minae;
- Mayer, Geert;
- Plazzi, Giuseppe;
- Nevsimalova, Sona;
- Bourgin, Patrice;
- Hong, Sheng Seung-Chul;
- Honda, Yutaka;
- Honda, Makoto;
- Högl, Birgit;
- Longstreth, William T;
- Montplaisir, Jacques;
- Kemlink, David;
- Einen, Mali;
- Chen, Justin;
- Musone, Stacy L
Publication type:
Correction Notice
Narcolepsy is strongly associated with the T-cell receptor alpha locus.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 708, doi. 10.1038/ng.372
By:
- Hallmayer, Joachim;
- Faraco, Juliette;
- Ling Lin;
- Hesselson, Stephanie;
- Winkelmann, Juliane;
- Kawashima, Minae;
- Mayer, Geert;
- Plazzi, Giuseppe;
- Nevsimalova, Sona;
- Bourgin, Patrice;
- Sheng Seung-Chul Hong;
- Honda, Yutaka;
- Honda, Makoto;
- Högl, Birgit;
- Longstreth, William T.;
- Montplaisir, Jacques;
- Kemlink, David;
- Einen, Mali;
- Chen, Justin;
- Musone, Stacy L.
Publication type:
Article
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Published in:
Nature Genetics, 2008, v. 40, n. 8, p. 946, doi. 10.1038/ng.190
By:
- Schormair, Barbara;
- Kemlink, David;
- Roeske, Darina;
- Eckstein, Gertrud;
- Lan Xiong;
- Lichtner, Peter;
- Ripke, Stephan;
- Trenkwalder, Claudia;
- Zimprich, Alexander;
- Stiasny-Kolster, Karin;
- Oertel, Wolfgang;
- Bachmann, Cornelius G.;
- Paulus, Walter;
- Högl, Birgit;
- Frauscher, Birgit;
- Gschliesser, Viola;
- Poewe, Werner;
- Peglau, Ines;
- Vodicka, Pavel;
- Vávrová, Jana
Publication type:
Article
Sleep and Fasciculations in Amyotrophic Lateral Sclerosis.
Published in:
Somnologie, 2004, v. 8, n. 1, p. 25, doi. 10.1111/j.1439-054X.2003.00010.x
By:
- Šonka, Karel;
- Fiksa, Jan;
- Horváth, Eszter;
- Kemlink, David;
- Süssová, Jana;
- Böhm, Jiri;
- Šebesta, Václav;
- Volná, Jana;
- Nevšimalová, Sona
Publication type:
Article
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 16, p. 3543, doi. 10.3390/jcm10163543
By:
- Reková, Petra;
- Dostálová, Gabriela;
- Kemlink, David;
- Paulasová Schwabová, Jaroslava;
- Dubská, Zora;
- Vaneckova, Manuela;
- Mašek, Martin;
- Kodet, Ondřej;
- Poupětová, Helena;
- Mazurová, Stella;
- Rajdova, Aneta;
- Vlckova, Eva;
- Táboříková, Alena;
- Fafejtová, Štěpánka;
- Nevsimalova, Miroslava;
- Linhart, Aleš;
- Tomek, Aleš
Publication type:
Article
3D visual cueing shortens the double support phase of the gait cycle in patients with advanced Parkinson's disease treated with DBS of the STN.
Published in:
PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244676
By:
- Poláková, Kamila;
- Růžička, Evžen;
- Jech, Robert;
- Kemlink, David;
- Rusz, Jan;
- Miletínová, Eva;
- Brožová, Hana
Publication type:
Article
Narcolepsy: clinical differences and association with other sleep disorders in different age groups.
Published in:
Journal of Neurology, 2013, v. 260, n. 3, p. 767, doi. 10.1007/s00415-012-6702-4
By:
- Nevsimalova, Sona;
- Pisko, Juraj;
- Buskova, Jitka;
- Kemlink, David;
- Prihodova, Iva;
- Sonka, Karel;
- Skibova, Jelena
Publication type:
Article
Sleep characteristics in child and adolescent offspring of parents with bipolar disorder: a case control study.
Published in:
BMC Psychiatry, 2017, v. 17, p. 1, doi. 10.1186/s12888-017-1361-8
By:
- Sebela, Antonin;
- Novak, Tomas;
- Kemlink, David;
- Goetz, Michal
Publication type:
Article
Prepulse inhibition of the blink reflex is abnormal in functional movement disorders.
Published in:
2019
By:
- Hanzlíková, Zuzana;
- Kofler, Markus;
- Slovák, Matěj;
- Věchetová, Gabriela;
- Fečíková, Anna;
- Kemlink, David;
- Sieger, Tomáš;
- Růžička, Evžen;
- Valls‐Solé, Josep;
- Edwards, Mark J.;
- Serranová, Tereza;
- Valls-Solé, Josep
Publication type:
journal article
Poruchy dýchání ve spánku u nervosvalových onemocnění.
Published in:
Neurologie Pro Praxi, 2022, v. 23, n. 3, p. 211
By:
- Kemlink, David
Publication type:
Article
High-dose immunoablation with autologous haematopoietic stem cell transplantation in aggressive multiple sclerosis: a single centre 10-year experience.
Published in:
Multiple Sclerosis (13524585), 2010, v. 16, n. 6, p. 685, doi. 10.1177/1352458510364538
By:
- Krasulová, Eva;
- Trněný, Marek;
- Kozák, Tomáš;
- Vacková, Blanka;
- Pohlreich, David;
- Kemlink, David;
- Kobylka, Petr;
- Kovářová, Ivana;
- Lhotáková, Petra;
- Havrdová, Eva
Publication type:
Article
APOE ϵ4: A Potential Modulation Factor in Rett Syndrome.
Published in:
Journal of Child Neurology, 2010, v. 25, n. 5, p. 546, doi. 10.1177/0883073809346848
By:
- Zahorakova, Daniela;
- Jachymova, Marie;
- Kemlink, David;
- Baxova, Alice;
- Martasek, Pavel
Publication type:
Article
ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy.
Published in:
PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003270
By:
- Faraco, Juliette;
- Ling Lin;
- Rahbek Kornum, Birgitte;
- Kenny, Eimear E.;
- Trynka, Gosia;
- Einen, Mali;
- Rico, Tom J.;
- Lichtner, Peter;
- Yves Dauvilliers;
- Arnulf, Isabelle;
- Lecendreux, Michel;
- Javidi, Sirous;
- Geisler, Peter;
- Mayer, Geert;
- Pizza, Fabio;
- Poli, Francesca;
- Plazzi, Giuseppe;
- Overeem, Sebastiaan;
- Jan Lammers, Gert;
- Kemlink, David
Publication type:
Article
Smoking Prevalence and Its Clinical Correlations in Patients with Narcolepsy-cataplexy.
Published in:
Prague Medical Report, 2016, v. 117, n. 2/3, p. 81, doi. 10.14712/23362936.2016.8
By:
- Perinová, Pavla;
- Feketeová, Eva;
- Kemlink, David;
- Kovalská, Petra;
- Chlebušová, Karolína;
- Nepožitek, Jirí;
- Ibarburu, Veronika;
- Králíková, Eva;
- Nevšímalová, Sona;
- Šonka, Karel
Publication type:
Article
Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound.
Published in:
Journal of Ultrasound in Medicine, 2023, v. 42, n. 10, p. 2315, doi. 10.1002/jum.16254
By:
- Rekova, Petra;
- Dostalova, Gabriela;
- Rob, Daniel;
- Vaneckova, Manuela;
- Pavlicova, Martina;
- Linhart, Ales;
- Kemlink, David
Publication type:
Article
Validation of the REM sleep behavior disorder screening questionnaire in the Czech population.
Published in:
2019
By:
- Bušková, Jitka;
- Peřinová, Pavla;
- Miletínová, Eva;
- Dušek, Petr;
- Růžička, Evžen;
- Šonka, Karel;
- Kemlink, David
Publication type:
journal article
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Published in:
Neurogenetics, 2017, v. 18, n. 4, p. 195, doi. 10.1007/s10048-017-0521-9
By:
- Zech, Michael;
- Jech, Robert;
- Wagner, Matias;
- Mantel, Tobias;
- Boesch, Sylvia;
- Nocker, Michael;
- Jochim, Angela;
- Berutti, Riccardo;
- Havránková, Petra;
- Fečíková, Anna;
- Kemlink, David;
- Roth, Jan;
- Strom, Tim;
- Poewe, Werner;
- Růžička, Evžen;
- Haslinger, Bernhard;
- Winkelmann, Juliane
Publication type:
Article
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.
Published in:
Neurogenetics, 2008, v. 9, n. 2, p. 75, doi. 10.1007/s10048-007-0113-1
By:
- Kemlink, David;
- Plazzi, Giuseppe;
- Vetrugno, Roberto;
- Provini, Federica;
- Polo, Olli;
- Stiasny-Kolster, Karin;
- Oertel, Wolfgang;
- Nevsimalova, Sona;
- Sonka, Karel;
- Högl, Birgit;
- Frauscher, Birgit;
- Hadjigeorgiou, Georgios;
- Pramstaller, Peter;
- Lichtner, Peter;
- Meitinger, Thomas;
- Müller-Myshok, Bertram;
- Winkelmann, Juliane;
- Montagna, Pasquale
Publication type:
Article
KMT2B rare missense variants in generalized dystonia.
Published in:
2017
By:
- Zech, Michael;
- Jech, Robert;
- Havránková, Petra;
- Fečíková, Anna;
- Berutti, Riccardo;
- Urgošík, Dušan;
- Kemlink, David;
- Strom, Tim M.;
- Roth, Jan;
- Růžička, Evžen;
- Winkelmann, Juliane
Publication type:
journal article
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
Published in:
Movement Disorders, 2007, v. 22, n. 2, p. 207, doi. 10.1002/mds.21254
By:
- Kemlink, David;
- Polo, Olli;
- Montagna, Pasquale;
- Provini, Federica;
- Stiasny-Kolster, Karin;
- Oertel, Wolfgang;
- de Weerd, Al;
- Nevsimalova, Sona;
- Sonka, Karel;
- Högl, Birgit;
- Frauscher, Birgit;
- Poewe, Werner;
- Trenkwalder, Claudia;
- Pramstaller, Peter P.;
- Ferini-Strambi, Luigi;
- Zucconi, Marco;
- Konofal, Eric;
- Arnulf, Isabelle;
- Hadjigeorgiou, Georgios M.;
- Happe, Svenja
Publication type:
Article
Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.
Published in:
Movement Disorders, 2007, v. 22, n. S18, p. S449, doi. 10.1002/mds.21587
By:
- Winkelmann, Juliane;
- Polo, Oli;
- Provini, Federica;
- Nevsimalova, Sonja;
- Kemlink, David;
- Sonka, Karel;
- Högl, Birgit;
- Poewe, Werner;
- Stiasny-Kolster, Karin;
- Oertel, Wolfgang;
- de Weerd, Al;
- Strambi, Luigi Ferini;
- Zucconi, Marco;
- Pramstaller, Peter P.;
- Arnulf, Isabelle;
- Trenkwalder, Claudia;
- Klein, Christine;
- Hadjigeorgiou, Georgios M.;
- Happe, Svenja;
- Rye, David
Publication type:
Article
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.
Published in:
Journal of Sleep Research, 2021, v. 30, n. 2, p. 1, doi. 10.1111/jsr.13051
By:
- Příhodová, Iva;
- Nepožitek, Jiří;
- Kelifová, Silvie;
- Dostálová, Simona;
- Kemlink, David;
- Šonka, Karel;
- Tesařová, Markéta;
- Honzík, Tomáš;
- Kolářová, Hana
Publication type:
Article
Anterior hippocampus volume loss in narcolepsy with cataplexy.
Published in:
Journal of Sleep Research, 2019, v. 28, n. 4, p. N.PAG, doi. 10.1111/jsr.12785
By:
- Křečková, Martina;
- Kemlink, David;
- Šonka, Karel;
- Krásenský, Jan;
- Bušková, Jitka;
- Vaněčková, Manuela;
- Němcová, Veronika
Publication type:
Article
Fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder.
Published in:
Journal of Sleep Research, 2019, v. 28, n. 4, p. N.PAG, doi. 10.1111/jsr.12819
By:
- Nepozitek, Jiri;
- Dostalova, Simona;
- Kemlink, David;
- Friedrich, Latica;
- Prihodova, Iva;
- Ibarburu Lorenzo y Losada, Veronika;
- Dusek, Petr;
- Bezdicek, Ondrej;
- Nikolai, Tomas;
- Perinova, Pavla;
- Dall'Antonia, Irene;
- Dusek, Pavel;
- Ruml, Martin;
- Ruzicka, Evzen;
- Sonka, Karel
Publication type:
Article
Hypothalamo-pituitary-adrenal axis, glucose metabolism and TNF-α in narcolepsy.
Published in:
Journal of Sleep Research, 2014, v. 23, n. 4, p. 425, doi. 10.1111/jsr.12138
By:
- Maurovich‐Horvat, Eszter;
- Keckeis, Marietta;
- Lattová, Zuzana;
- Kemlink, David;
- Wetter, Thomas‐Christian;
- Schuld, Andreas;
- Sonka, Karel;
- Pollmächer, Thomas
Publication type:
Article
Narcolepsy and pregnancy: a retrospective European evaluation of 249 pregnancies.
Published in:
Journal of Sleep Research, 2013, v. 22, n. 5, p. 496, doi. 10.1111/jsr.12047
By:
- Maurovich‐Horvat, Eszter;
- Kemlink, David;
- Högl, Birgit;
- Frauscher, Birgit;
- Ehrmann, Laura;
- Geisler, Peter;
- Ettenhuber, Katharina;
- Mayer, Geert;
- Peraita‐Adrados, Rosa;
- Calvo, Elena;
- Lammers, Gert Jan;
- Heide, Astrid;
- Ferini‐Strambi, Luigi;
- Plazzi, Giuseppe;
- Poli, Francesca;
- Dauvilliers, Yves;
- Jennum, Poul;
- Leonthin, Helle;
- Mathis, Johannes;
- Wierzbicka, Aleksandra
Publication type:
Article

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