• Je něco špatně v tomto záznamu ?

SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder

U. Rudakou, NC. Futhey, L. Krohn, JA. Ruskey, K. Heilbron, P. Cannon, 23andMe Research Team, A. Alam, I. Arnulf, MTM. Hu, JY. Montplaisir, JF. Gagnon, A. Desautels, Y. Dauvilliers, M. Toffoli, GL. Gigli, M. Valente, B. Högl, A. Stefani, E....

. 2020 ; 93 (-) : 142.e5-142.e7. [pub] 20200418

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc21012223

Grantová podpora
J-0901 Parkinson's UK - United Kingdom
MC_EX_MR/N50192X/1 Medical Research Council - United Kingdom
MR/L023784/1 Medical Research Council - United Kingdom
MR/M024962/1 Medical Research Council - United Kingdom

Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.

Centre d'Études Avancées en Médecine du Sommeil Hôpital du Sacré Cœur de Montréal Montréal Quebec Canada

Clinical Neurology Unit Department of Neurosciences University Hospital of Udine Udine Italy

Department of Biomedical and Neuromotor Sciences Alma Mater Studiorum University of Bologna Bologna Italy

Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London UK

Department of Human Genetics McGill University Montréal Quebec Canada

Department of Medical Sciences and Public Health Sleep Disorder Research Center University of Cagliari Cagliari Italy

Department of Medicine University of Udine Udine Italy

Department of Neurological Sciences Università Vita Salute San Raffaele Milan Italy

Department of Neurology and Centre of Clinical Neuroscience Charles University 1st Faculty of Medicine and General University Hospital Prague Czech Republic

Department of Neurology and Neurosurgery McGill University Montréal Quebec Canada

Department of Neurology Mayo Clinic Rochester MN USA

Department of Neurology Philipps University Marburg Marburg Germany

Department of Neurology St Dimpna Regional Hospital Geel Belgium

Department of Neurology University Medical Centre Goettingen Goettingen Germany

Department of Neurosciences Université de Montréal Montréal Quebec Canada

Department of Psychiatry Université de Montréal Montréal Quebec Canada

Department of Psychology Université du Québec à Montréal Montréal Quebec Canada

Department of Sleep Medicine and Neuromuscular Disorders University of Muenster Muenster Germany

DMIF University of Udine Udine Italy

EuroMov University of Montpellier Montpellier France

IRCCS Institute of Neurological Sciences of Bologna Bologna Italy

Laboratory for Sleep Disorders St Dimpna Regional Hospital Geel Belgium

Me Inc Sunnyvale CA USA

Montreal Neurological Institute McGill University Montréal Quebec Canada

National Reference Center for Narcolepsy Sleep Unit Department of Neurology Gui de Chauliac Hospital CHU Montpellier University of Montpellier Inserm U1061 Montpellier France

Nuffield Department of Clinical Neurosciences University of Oxford Oxford UK

Oxford Parkinson's Disease Centre University of Oxford Oxford UK

Paracelsus Elena Klinik Kassel Germany

Sleep and Neurology Unit Beau Soleil Clinic Montpellier France

Sleep Disorder Unit Carémeau Hospital University Hospital of Nîmes Nîmes France

Sleep Disorders Clinic Department of Neurology Medical University of Innsbruck Innsbruck Austria

Sleep Disorders Unit Pitié Salpêtrière Hospital Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière Sorbonne University Paris France

University Lille North of France Department of Clinical Neurophysiology and Sleep Center CHU Lille Lille France

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc21012223
003      
CZ-PrNML
005      
20210507103902.0
007      
ta
008      
210420s2020 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.neurobiolaging.2020.04.005 $2 doi
035    __
$a (PubMed)32409254
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Rudakou, Uladzislau $u Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada
245    10
$a SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder / $c U. Rudakou, NC. Futhey, L. Krohn, JA. Ruskey, K. Heilbron, P. Cannon, 23andMe Research Team, A. Alam, I. Arnulf, MTM. Hu, JY. Montplaisir, JF. Gagnon, A. Desautels, Y. Dauvilliers, M. Toffoli, GL. Gigli, M. Valente, B. Högl, A. Stefani, E. Holzknecht, K. Sonka, D. Kemlink, W. Oertel, A. Janzen, G. Plazzi, E. Antelmi, M. Figorilli, M. Puligheddu, B. Mollenhauer, C. Trenkwalder, F. Sixel-Döring, VC. De Cock, CC. Monaca, A. Heidbreder, L. Ferini-Strambi, F. Dijkstra, M. Viaene, B. Abril, BF. Boeve, RB. Postuma, GA. Rouleau, Z. Gan-Or
520    9_
$a Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.
650    _2
$a ženské pohlaví $7 D005260
650    12
$a genetické asociační studie $7 D056726
650    12
$a genetická variace $7 D014644
650    _2
$a vysoce účinné nukleotidové sekvenování $7 D059014
650    _2
$a lidé $7 D006801
650    _2
$a mužské pohlaví $7 D008297
650    12
$a negativní výsledek $7 D000076723
650    _2
$a poruchy spánku a bdění $x genetika $x patofyziologie $7 D012893
650    _2
$a spánek REM $x genetika $7 D012895
650    _2
$a sfingomyelinfosfodiesterasa $x genetika $x fyziologie $7 D013108
655    _2
$a časopisecké články $7 D016428
700    1_
$a Futhey, Naomi C $u Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada
700    1_
$a Krohn, Lynne $u Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada
700    1_
$a Ruskey, Jennifer A $u Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada
700    1_
$a Heilbron, Karl $u 23andMe, Inc., Sunnyvale, CA, USA
700    1_
$a Cannon, Paul $u 23andMe, Inc., Sunnyvale, CA, USA
700    1_
$a Alam, Armaghan $u Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada
700    1_
$a Arnulf, Isabelle $u Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Sorbonne University, Paris, France
700    1_
$a Hu, Michele T M $u Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, UK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
700    1_
$a Montplaisir, Jacques Y $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Psychiatry, Université de Montréal, Montréal, Quebec, Canada
700    1_
$a Gagnon, Jean-François $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Psychology, Université du Québec à Montréal, Montréal, Quebec, Canada
700    1_
$a Desautels, Alex $u Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Neurosciences, Université de Montréal, Montréal, Quebec, Canada
700    1_
$a Dauvilliers, Yves $u National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, Montpellier, France
700    1_
$a Toffoli, Marco $u Department of Medicine (DAME), University of Udine, Udine, Italy; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK
700    1_
$a Gigli, Gian Luigi $u Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy; DMIF, University of Udine, Udine, Italy
700    1_
$a Valente, Mariarosaria $u Department of Medicine (DAME), University of Udine, Udine, Italy; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy
700    1_
$a Högl, Birgit $u Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
700    1_
$a Stefani, Ambra $u Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
700    1_
$a Holzknecht, Evi $u Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
700    1_
$a Sonka, Karel $u Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic
700    1_
$a Kemlink, David $u Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic
700    1_
$a Oertel, Wolfang $u Department of Neurology, Philipps-University Marburg, Marburg, Germany
700    1_
$a Janzen, Annette $u Department of Neurology, Philipps-University Marburg, Marburg, Germany
700    1_
$a Plazzi, Giuseppe $u Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy
700    1_
$a Antelmi, Elena $u Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy
700    1_
$a Figorilli, Michela $u Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy
700    1_
$a Puligheddu, Monica $u Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy
700    1_
$a Mollenhauer, Brit $u Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany
700    1_
$a Trenkwalder, Claudia $u Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany
700    1_
$a Sixel-Döring, Friederike $u Department of Neurology, Philipps-University Marburg, Marburg, Germany; Paracelsus-Elena-Klinik, Kassel, Germany
700    1_
$a De Cock, Valérie Cochen $u Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France; EuroMov, University of Montpellier, Montpellier, France
700    1_
$a Monaca, Christelle Charley $u University Lille North of France, Department of Clinical Neurophysiology and Sleep Center, CHU Lille, Lille, France
700    1_
$a Heidbreder, Anna $u Department of Sleep Medicine and Neuromuscular Disorders, University of Muenster, Muenster, Germany
700    1_
$a Ferini-Strambi, Luigi $u Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy
700    1_
$a Dijkstra, Femke $u Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium
700    1_
$a Viaene, Mineke $u Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium
700    1_
$a Abril, Beatriz $u Sleep Disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France
700    1_
$a Boeve, Bradley F $u Department of Neurology, Mayo Clinic, Rochester, MN, USA
700    1_
$a Postuma, Ronald B $u Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada
700    1_
$a Rouleau, Guy A $u Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada
700    1_
$a Gan-Or, Ziv $u Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mcgill.ca
710    2_
$a 23andMe Research Team
773    0_
$w MED00006329 $t Neurobiology of aging $x 1558-1497 $g Roč. 93, č. - (2020), s. 142.e5-142.e7
856    41
$u https://pubmed.ncbi.nlm.nih.gov/32409254 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20210420 $b ABA008
991    __
$a 20210507103900 $b ABA008
999    __
$a ok $b bmc $g 1650569 $s 1132602
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2020 $b 93 $c - $d 142.e5-142.e7 $e 20200418 $i 1558-1497 $m Neurobiology of aging $n Neurobiol Aging $x MED00006329
GRA    __
$a J-0901 $p Parkinson's UK $2 United Kingdom
GRA    __
$a MC_EX_MR/N50192X/1 $p Medical Research Council $2 United Kingdom
GRA    __
$a MR/L023784/1 $p Medical Research Council $2 United Kingdom
GRA    __
$a MR/M024962/1 $p Medical Research Council $2 United Kingdom
LZP    __
$a Pubmed-20210420
Zpět

Najít záznam

Citační ukazatele

Pouze přihlášení uživatelé

Možnosti archivace