Zobrazeno 1 - 10
of 151
pro vyhledávání: '"JM Hertz"'
Autor:
L Regeur, Lena E. Hjermind, JM Hertz, Lars Friberg, JE Nielsen, CB Lucking, RA Wevers, LG Johannsen, SA Sørensen, N Blau
Publikováno v:
Aktuelle Neurologie. 32
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4f4882382496e1b750bbbe04f6babeb0
http://europepmc.org/abstract/med/23582824
http://europepmc.org/abstract/med/23582824
Publikováno v:
Scopus-Elsevier
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 1993, 2 (3), pp.206-7
ResearcherID
Europe PubMed Central
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 1993, 2 (3), pp.206-7
ResearcherID
Europe PubMed Central
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4641f72f94f344db2f32655e200ec989
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028690583&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028690583&partnerID=MN8TOARS
Autor:
Jp, Jais, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Ko, Netzer, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Jm, Hertz, Schröder C, Sanak M, Marie-Claire Gubler
Publikováno v:
CIÊNCIAVITAE
Europe PubMed Central
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e748613fe947a7c9b656e6a9074ec6d
http://europepmc.org/abstract/med/10752524
http://europepmc.org/abstract/med/10752524
Autor:
Petersen SD; Faculty of Health and Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark., Belmouhand M; Faculty of Health and Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark., Hertz JM; Department of Clinical Research, Faculty of Health Science, University of Southern Denmark, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Fagerberg C; Department of Clinical Research, Faculty of Health Science, University of Southern Denmark, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Department of Clinical Research, Faculty of Health Science, University of Southern Denmark, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Grauslund J; Department of Clinical Research, Faculty of Health Science, University of Southern Denmark, Odense, Denmark.; Department of Ophthalmology, Vestfold University Trust, Tønsberg, Norway.; Department of Ophthalmology, Odense University Hospital, Odense, Denmark., Munier FL; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland., Larsen M; Faculty of Health and Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 281-288. Date of Electronic Publication: 2024 Jan 10.
Autor:
Savige J; Department of Medicine (MH and NH), The University of Melbourne, Parkville, VIC, Australia. jasavige@unimelb.edu.au., Storey H; Molecular Genetics, Viapath Laboratories, Guy's Hospital, London, UK., Watson E; Elizabeth Watson, South West Genomic Laboratory Hub, North Bristol Trust, Bristol, UK., Hertz JM; Jens Michael Hertz, Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Deltas C; Center of Excellence in Biobanking and Biomedical Research and Molecule Medicine Center, University of Cyprus, Nicosia, Cyprus., Renieri A; Medical Genetics, University of Siena, Siena, Italy., Mari F; Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium., Hilbert P; Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium., Plevova P; Department of Medical Genetics, and Department of Biomedical Sciences, University Hospital of Ostrava, Ostrava, Czech Republic., Byers P; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA., Cerkauskaite A; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Gregory M; Division of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, UT, USA., Cerkauskiene R; Clinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Ljubanovic DG; Department of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia., Becherucci F; Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy., Errichiello C; Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy., Massella L; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Aiello V; Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy., Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK., Hopkinson L; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK., Koziell A; School of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, UK., Lungu A; Fundeni Clinical Institute, Pediatric Nephrology Department, Bucharest, Romania., Rothe HM; Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany., Hoefele J; Institute of Human Genetics, Technical University of Munich, München, Germany., Zacchia M; Nephrology Unit, University of Campania, Naples, Italy., Martic TN; Department of Biology, School of Medicine University of Zagreb, Zagreb, Croatia., Gupta A; Birmingham Children's Hospital, Birmingham, UK., van Eerde A; Departments of Genetics and Center for Molecular Medicine, University Medical Center, Utrecht University, Utrecht, The Netherlands., Gear S; Alport UK, Gloucester, UK., Landini S; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Al-Rabadi L; Health Sciences Centre, University of UTAH, Salt Lake City, UT, USA., Claes K; Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Leuven, Belgium., Corveleyn A; Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium., Van Hoof E; Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium., van Geel M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Williams M; Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Bristol, UK., Ashton E; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK., Belge H; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Ars E; Inherited Kidney Disorders, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain., Bierzynska A; Bristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK., Gangemi C; Division of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy., Lipska-Ziętkiewicz BS; Centre for Rare Diseases, and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan; Vol. 32 (1), pp. 132.
Autor:
Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Chen C; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Stallworth J; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Turner JL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Slaats GG; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands., Hawks AL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Mabillard H; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Srikanth S; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Flanagan-Steet H; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Silver J; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Lerner-Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Morel C; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Mighton C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Sleutels F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Ham T; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dorresteijn EM; Department of Pediatric Nephrology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dahan K; Institute Pathology and Genetic, Center of Human Genetics, Charleroi, Belgium., Demoulin N; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Goffin EJ; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Olinger E; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, Utrecht, the Netherlands., Obeidová L; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Seeman T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Pediatrics, University Hospital Ostrava, Ostrava, Czech Republic; Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic., Stone HK; Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Kerecuk L; Birmingham Women's and Children's National Health Services (NHS) Foundation Trust, National Institute for Health Care and Research (NIHR) Clinical Research Network (CRN) West Midlands, Birmingham, UK., Gurgu M; Fundeni Clinical Institute, Bucharest, Romania., Yousef Yengej FA; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Ammerlaan CME; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Rookmaaker MB; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands., Hanna C; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Rogers RC; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Peters E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Sayer JA; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK; National Institute for Health and Care Research (NIHR) Biomedical Research Centre, Newcastle, UK., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris PC; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Ling K; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA. Electronic address: Ling.Kun@mayo.edu., Mason JM; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA. Electronic address: jmason4@clemson.edu., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: A.vanEerde@umcutrecht.nl., Steet R; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA. Electronic address: rsteet@ggc.org.
Publikováno v:
Kidney international [Kidney Int] 2023 Nov; Vol. 104 (5), pp. 995-1007. Date of Electronic Publication: 2023 Aug 19.
Autor:
Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark., Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark., Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA., Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain., Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA., Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands., Potgieter ST; Laurentius Hospital, Roermond, the Netherlands., Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK., Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland., Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan., Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany., Spranger S; Practice of Human Genetics, Bremen, Germany., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia., Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia., Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA., Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK., Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA., Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany., Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France., Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca., Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.
Autor:
Dembic M; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark. Maja.Dembic@rsyd.dk.; Department of Mathematics and Computer Science (IMADA), University of Southern Denmark, Campusvej 55, 5230, Odense M, Denmark. Maja.Dembic@rsyd.dk.; Department of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark. Maja.Dembic@rsyd.dk., van Brakel Andersen L; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.; Department of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.; Department of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark., Mechlenburg I; Department of Orthopedic Surgery, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark., Søballe K; Department of Orthopedic Surgery, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark., Hertz JM; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.; Department of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark.
Publikováno v:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 Mar; Vol. 298 (2), pp. 329-342. Date of Electronic Publication: 2022 Dec 01.
Autor:
Vollstedt EJ; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Schaake S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Padmanabhan S; Research Programs, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA., Brice A; Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Lesage S; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France., Tesson C; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France., Vidailhet M; Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Wurster I; Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Baden Wuerttemberg, Germany, Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases, Tuebingen, Germany., Hentati F; Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia., Mirelman A; Laboratory of Early Markers of Neurodegeneration, Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel., Giladi N; Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel., Marder K; Department of Neurology, Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA., Waters C; Department of Neurology, Columbia University, New York, New York, USA., Fahn S; Department of Neurology, Columbia University, New York, New York, USA., Kasten M; Department of Psychiatry and Psychotherapy and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Brüggemann N; Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Borsche M; Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Foroud T; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Tolosa E; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII), Barcelona, Spain., Garrido A; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII), Barcelona, Spain., Annesi G; Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy., Gagliardi M; Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy., Bozi M; Parkinson's and Movement Disorders Unit, 2nd Department of Neurology of the University of Athens, Attikon Hospital, Haidari, Athens, Greece; Psychiatry Hospital of Attica 'Dafni,' Neurology Department, Haidari, Athens, Greece., Stefanis L; First Department of Neurology, Medical School of the National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece., Ferreira JJ; Laboratory of Clinical Pharmacology and Therapeutics, University of Lisbon, Lisbon, Portugal; Instituto de Medicina Molecular João Lobo Antunes, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Correia Guedes L; Department of Neuroscience and Mental Health, Neurology Department, Hospital de Santa Maria, CHULN, Lisbon, Portugal; Instituto de Medicina Molecular João Lobo Antunes, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Avenali M; Neurorehabilitation Unit, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Petrucci S; Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy; Sant' Andrea University Hospital, Rome, Italy., Clark L; Department of Pathology and Cell Biology, Vagelos College of Physicians & Surgeons, Columbia University Irving Medical Center, New York, New York, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, New York, USA; Laboratory of Personalized Genomic Medicine, Vagelos College of Physicians & Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Fedotova EY; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia., Abramycheva NY; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia., Alvarez V; Laboratório de Genética, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain., Menéndez-González M; Servicio Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain., Jesús Maestre S; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain., Gómez-Garre P; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain., Mir P; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain., Belin AC; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden., Ran C; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden., Lin CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan., Kuo MC; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan., Crosiers D; Department of Neurology, Antwerp University Hospital, Edegem, Belgium; Born Bunge Institute, Department of Neurology, University of Antwerp, Wilrijk, Belgium; Center for Molecular Neurology, VIB, Wilrijk, Belgium., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Jankovic J; Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA., Nishioka K; Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan., Funayama M; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan., Clarimon J; Department of Neurology, Biomedical Research Institute IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain., Williams-Gray CH; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Camacho M; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru., Torres-Ramirez L; Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru., Wu YR; Department of Neurology, Chang Gung University, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan., Lee-Chen GJ; Department of Life Science, National Taiwan Normal University, Taipei, Taiwan., Morgadinho A; Movement Disorders Clinic, Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Pulkes T; Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Termsarasab P; Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Berg D; Department of Neurology, Christian-Albrechts-Universität, Kiel, Germany., Kuhlenbäumer G; Department of Neurology, Christian-Albrechts-Universität, Kiel, Germany., Kühn AA; Movement Disorder and Neuromodulation Unit, Charité, Universitätsmedizin Berlin, Department of Neurology, Berlin, Germany., Borngräber F; Movement Disorder and Neuromodulation Unit, Charité, Universitätsmedizin Berlin, Department of Neurology, Berlin, Germany., de Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., De Rosa A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Zimprich A; Department of Neurology, Medical University, Vienna, Austria., Puschmann A; Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden; Department of Neurology, Skåne University, Lund, Sweden., Mellick GD; Griffith Institute for Drug Discovery (GRIDD), School of Environment and Science, Griffith University, Brisbane, Queensland, Australia., Dorszewska J; Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland., Carr J; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa., Ferese R; IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy; Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', Urbino, Italy., Gambardella S; IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy; Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', Urbino, Italy., Chase B; Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA., Markopoulou K; Department of Neurology, NorthShore University HealthSystem, Evanston Illinois and Department of Neurology, University of Chicago, Chicago, Illinois, USA., Satake W; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina., Toda T; Department of Neurology, The University of Tokyo, Tokyo, Japan., Rossi M; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina., Merello M; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Argentina; Pontificia Universidad Católica Argentina (UCA), Buenos Aires, Argentina., Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland., Olszewska DA; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland., Lim SY; Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Ahmad-Annuar A; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tan AH; Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Al-Mubarak B; Behavioural Genetics Unit, Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hanagasi H; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Koziorowski D; Department of Neurology, Medical University in Warsaw, Warsaw, Poland., Ertan S; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey., Genç G; Department of Neurology, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey., de Carvalho Aguiar P; Hospital Israelita Albert Einstein, São Paulo, Brazil; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Barkhuizen M; DST/NWU Preclinical Drug Development Platform, North-West University, Potchefstroom, North-West, South Africa., Pimentel MMG; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Saunders-Pullman R; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA., van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands., Bressman S; Department of Neurology, Beth Israel Medical Center, New York, New York, USA; Department of Neurology at Albert Einstein College of Medicine, New York, New York, USA., Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Appel-Cresswell S; Pacific Parkinson's Research Centre, Division of Neurology, Department of Medicine, Vancouver, British Columbia, Canada., Lang AE; Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Toronto, Ontario, Canada., Skorvanek M; Department of Neurology, Pavol Jozef Šafárik University in Košice, Košice, Slovakia; Department of Neurology, University Hospital L. Pasteur, Kosice, Slovakia., Boon AJW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands., Krüger R; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Strassen, Luxembourg; Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), Luxembourg, Luxembourg., Sammler EM; Neurology Department, Ninewells Hospital and Medical School, Dundee, United Kingdom; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK., Tumas V; Behavioral and Movement Disorders Section, Ribeirão Preto Medical School, University of São Paulo, Brazil., Zhang BR; Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China., Garraux G; Department of Neurology, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium; MoVeRe Group, GIGA-CRC In Vivo Imaging, University of Liege, Liège, Belgium., Chung SJ; Medical Genetic Center, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea., Kim YJ; Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea; Department of Neurology, Yongin Severance Hospital, Yonsei University Health System, Yongin, South Korea., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany; Neurogenetics, Technische Universitaet Muenchen, Munich, Germany; Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Sue CM; Department of Neurogenetics, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Tan EK; Department of Neurology, National Neuroscience Institute, Duke NUS Medical School, Singapore General Hospital, Singapore, Singapore., Damásio J; Department of Neurology, Hospital de Santo António - Centro Hospitalar Universitário do Porto, Porto, Portugal; UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Portugal., Klivényi P; Department of Neurology, University of Szeged, Szeged, Hungary., Kostic VS; Department for Neurodegeneration, Clinic for Neurology CCS, Belgrade, Serbia., Arkadir D; Department of Neurology, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel., Martikainen M; Neurocenter, Turku University Hospital, Turku, Finland; Clinical Neurosciences, Faculty of Medicine, University of Turku, Turku, Finland., Borges V; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark., Brighina L; Department of Neurology, Milan Center for Neuroscience, University of Milano-Bicocca/San Gerardo Hospital, Monza, Italy., Spitz M; Neurology Service, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Suchowersky O; Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Das P; Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India., Mollenhauer B; Movement Disorder Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Gatto EM; Movement Disorders, Department of Neurology, Instituto de Neurosciencias Buenos Aires, Buenos Aires, Argentina., Petersen MS; Centre of Health Science, University of the Faroe Islands, Tórshavn, Faroe Islands; Department of Occupational Medicine and Public Health, The Faroese Hospital System, Tórshavn, Faroe Islands., Hattori N; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan., Wu RM; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan., Illarioshkin SN; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia., Valente EM; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Aasly JO; Department of Neurology, St. Olavs Hospital, Trondheim, Norway.; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway., Aasly A; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway., Alcalay RN; Department of Neurology, Columbia University, New York, New York, USA., Thaler A; Movement Disorders, Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Farrer MJ; Fixel Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA., Brockmann K; Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Baden Wuerttemberg, Germany, Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases, Tuebingen, Germany., Corvol JC; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Neurology, Paris, France., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Feb; Vol. 38 (2), pp. 286-303. Date of Electronic Publication: 2023 Jan 24.