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Wyszukujesz frazę ""Fečíková, Anna"" wg kryterium: Autor


Wyświetlanie 1-20 z 20
Tytuł :
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Autorzy :
Khan, KamalAff1, Aff2, Aff3
Zech, MichaelAff4, Aff5
Morgan, Angela T.
Amor, David J.
Skorvanek, MatejAff7, Aff8
Khan, Tahir N.Aff1, Aff17
Hildebrand, Michael S.Aff6, Aff9
Jackson, Victoria E.
Scerri, Thomas S.
Coleman, Matthew
Rigbye, Kristin A.
Scheffer, Ingrid E.Aff9, Aff11
Bahlo, Melanie
Wagner, MatiasAff4, Aff5
Lam, Daniel D.
Berutti, Riccardo
Havránková, Petra
Fečíková, Anna
Strom, Tim M.Aff5, Aff12
Han, VladimirAff7, Aff8
Dosekova, PetraAff7, Aff8
Gdovinova, ZuzanaAff7, Aff8
Laccone, Franco
Jameel, Muhammad
Mooney, Marie R.
Baig, Shahid M.Aff2, Aff3
Jech, Robert
Davis, Erica E.
Katsanis, Nicholas
Winkelmann, JulianeAff4, Aff5, Aff15, Aff16
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(11):2532-2542
Czasopismo naukowe
Tytuł :
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
Autorzy :
Necpál, Ján
Zech, Michael
Škorvánek, Matej
Havránková, Petra
Fečíková, Anna
Winkelmann, Juliane
Jech, Robert
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Temat :
ATAXIA
TREATMENT of dystonia
PNEUMONIA treatment
BIOINFORMATICS
THERAPEUTICS
Źródło :
Movement Disorders Clinical Practice; Jan/Feb2018, Vol. 5 Issue 1, p89-91, 3p
Czasopismo naukowe
Tytuł :
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Autorzy :
Khan K; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Morgan AT; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
Hildebrand MS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Jackson VE; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
Scerri TS; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
Coleman M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Rigbye KA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.; University of Melbourne Department of Paediatrics, Royal Children's Hospital, and Florey and Murdoch Children's Research Institute, Parkville, VIC, Australia.
Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.
Lam DD; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Strom TM; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Han V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Dosekova P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Gdovinova Z; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Laccone F; Institute of Medical Genetics, Medical School of Vienna, Vienna, Austria.
Jameel M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Mooney MR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA. .
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany. .; Institut für Humangenetik, Technische Universität München, Munich, Germany. .; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany. .; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2532-2542. Date of Electronic Publication: 2019 Apr 30.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*genetics
Neurodevelopmental Disorders/*genetics
Trans-Activators/*genetics
Adolescent ; Adult ; Child ; Cohort Studies ; Computational Biology/methods ; Dystonia/genetics ; Family ; Female ; Humans ; Intellectual Disability/genetics ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Seizures/genetics ; Speech Disorders/genetics ; Trans-Activators/metabolism ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.
Autorzy :
Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, 81675, Germany.
Lam DD; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.
Weber S; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, Munich, 85764, Germany.
Poláková K; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Havránková P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Strom TM; Institut für Humangenetik, Helmholtz Zentrum München, Munich, 85764, Germany.; Institut für Humangenetik, Technische Universität München, Munich, 81675, Germany.
Růžička E; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, 120 00, Czech Republic.
Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, 85764, Germany.; Institut für Humangenetik, Technische Universität München, Munich, 81675, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, 80333, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, 81377, Germany.
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Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Dec 17; Vol. 4 (6). Date of Electronic Publication: 2018 Dec 17 (Print Publication: 2018).
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Calcium-Calmodulin-Dependent Protein Kinase Type 4/*genetics
Hyperkinesis/*genetics
Intellectual Disability/*genetics
Calcium-Calmodulin-Dependent Protein Kinase Type 4/metabolism ; Cerebellar Ataxia/genetics ; Codon, Nonsense/genetics ; Exome ; Exons/genetics ; Female ; Frameshift Mutation/genetics ; Gain of Function Mutation/genetics ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; RNA Splicing/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
Autorzy :
Necpál J; Department of Neurology Zvolen Hospital Zvolen Slovakia.
Zech M; Institut für Neurogenomik Helmholtz Zentrum München Munich Germany.; Klinik und Poliklinik für Neurologie Klinikum rechts der Isar Technische Universität München Munich Germany.
Škorvánek M; Department of Neurology Safarik University Kosice Slovakia.
Havránková P; Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
Fečíková A; Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
Winkelmann J; Institut für Neurogenomik Helmholtz Zentrum München Munich Germany.; Klinik und Poliklinik für Neurologie Klinikum rechts der Isar Technische Universität München Munich Germany.; Institut für Humangenetik Technische Universität München Munich Germany.; Munich Cluster for Systems Neurology SyNergy Munich Germany.
Jech R; Department of Neurology and Center of Clinical Neuroscience First Faculty of Medicine Charles University and General Faculty Hospital Prague Czech Republic.
Pokaż więcej
Źródło :
Movement disorders clinical practice [Mov Disord Clin Pract] 2017 Dec 03; Vol. 5 (1), pp. 89-91. Date of Electronic Publication: 2017 Dec 03 (Print Publication: 2018).
Typ publikacji :
Case Reports
Raport
    Wyświetlanie 1-20 z 20

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