Luba Kalaydjieva

Br J Psychiatry 2018 09;213(3):535-541

Division of Psychiatry and Institute of Cognitive Neuroscience,University College London and Institute of Psychiatry, Psychology and Neuroscience, King's College London and South London and Maudsley NHS Foundation Trust,UK.

Neurology 2018 07 27;91(4):e339-e348. Epub 2018 Jun 27.

From the Unidad de Enfermedades Neuromusculares, Department of Neurology (M.C.-S., C.P.), Instituto de Biomedicina de Sevilla (IBiS) (M.C.-S., F.M., C.P.), and Department of Pathology, Neuropathology Unit (E.R.), Hospital Universitario Virgen del Rocío, Sevilla, Spain; Laboratoire Diagnostic Génétique (V.B.), Faculté de Médecine-CHRU, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (V.B., R.Á., J.L.), Illkirch, France; Harry Perkins Institute of Medical Research and Centre for Medical Research (B.M., N.G.L., L.K.), University of Western Australia, Nedlands; Department of Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre, Madrid Research Institute; Neuropathology Unit (M.O.), Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Department of Neurology and IIS La Fe (N.M., J.J.V.), Hospital Universitari i Politècnic La Fe, Valencia; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (N.M., J.D.-M., J.J.V.); Department of Neurology (E.K.), Consulta de Enfermedades Neuromusculares y Unidad de ELA, Hospital General Universitario Santa Lucía, Cartagena, Murcia; Department of Neurology (A.C.), Hospital Virgen de las Nieves, Granada; Department of Neurology (P.Q.), Hospital Torrecárdenas, Almería; Unidad de Enfermedades Neuromusculares (J.D.-M.), Department of Neurology, Universidad Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Perth, Australia; Department of Neurology (C.D.), Hospital 12 de Octubre, Madrid, Spain; Unité de Morphologie Neuromusculaire (N.B.R.), Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris; Université Sorbonne (N.B.R.), UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Medicine (J.J.V.), Universitat de Valencia; Department of Experimental and Health Sciences (D.C.), Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain; Centre National de la Recherche Scientifique (J.L.), UMR7104, Illkirch; and Institut National de la Santé et de la Recherche Médicale (J.L.), U964, Illkirch, France.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 29;177(1):21-34. Epub 2017 Aug 29.

Division of Psychiatry, University College London, London, UK.

J Clin Invest 2017 12 6;127(12):4421-4436. Epub 2017 Nov 6.

Feinberg Cardiovascular Research Institute and.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

Mov Disord 2016 12 27;31(12):1929-1931. Epub 2016 Oct 27.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Blood Transfus 2016 11 11;14(6):580-581. Epub 2016 May 11.

Harry Perkins Institute of Medical Research, The University of Western Australia, Nedlands, WA, Australia.

Hum Mol Genet 2016 10 9;25(19):4302-4314. Epub 2016 Aug 9.

Harry Perkins Institute of Medical Research and Centre for Medical Research, Level 7, QQ Block, QEII Medical Centre, 6 Verdun Street, and School of Chemistry and Biochemistry, The University of Western Australia, Crawley, WA 6009, Australia,

J Clin Invest 2016 07 6;126(7):2575-87. Epub 2016 Jun 6.

Eur J Hum Genet 2016 06 16;24(6):937-43. Epub 2015 Sep 16.

Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.

Behav Neurol 2015 28;2015:639539. Epub 2015 Apr 28.

Clinic of Neurology, University Hospital "Alexandrovska", 1431 Sofia, Bulgaria ; Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria.

Mov Disord 2015 Nov 19;30(13):1858-9. Epub 2015 Oct 19.

Medical University of Sofia, Faculty of Medicine, Department of Neurology, Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

Mol Genet Metab 2014 Sep-Oct;113(1-2):76-83. Epub 2014 Jul 21.

Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia. Electronic address:

Mov Disord 2015 May 15;30(6):854-8. Epub 2015 Mar 15.

Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.

Neurology 2014 Oct 3;83(15):1337-44. Epub 2014 Sep 3.

From the Friedrich-Baur Institute (M.C.W.), Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Gottfried von Preyer'sches Kinderspital (G.B.), Vienna; Ambulatorium Wiental (U.Z.), Center for Developmental Neurology, Vienna; Department of Ophthalmology (A.M.-E., E.M.), University of Vienna, Austria; Harry Perkins Institute for Medical Research and Centre for Medical Research (L.K.), The University of Western Australia, Perth; Institute of Genetic Medicine (H.L.), Newcastle University, Newcastle-upon-Tyne, UK; and Department of Neuropaediatrics (W.M.-F.), Dr. von Hauner'sches Kinderspital, University of Munich, Germany.

Nat Commun 2014 Jul 3;5:4287. Epub 2014 Jul 3.

Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

F1000Res 2013 13;2:46. Epub 2013 Feb 13.

Western Australian Institute for Medical Research and Centre for Diabetes Research, University of Western Australia, Perth, 6000, Australia ; Centre for Medical Research, University of Western Australia, Perth, 6000, Australia ; The Walter and Eliza Hall Institute of Medical Research, Victoria, 3065, Australia.

Biol Psychiatry 2014 Mar 17;75(5):386-97. Epub 2013 Jul 17.

J Cell Biol 2014 Mar;204(7):1219-36

Neuroscience Institute and 2 Departments of Neuroscience and Physiology and Neurology, NYU Langone Medical Center, New York, NY 10016.

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

Nat Genet 2013 Oct 25;45(10):1150-9. Epub 2013 Aug 25.

1] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3].

Mol Genet Genomic Med 2013 Jul 22;1(2):71-6. Epub 2013 Apr 22.

Laboratory for Molecular Genetics, Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia Perth, WA, Australia.

PLoS One 2012 25;7(7):e41803. Epub 2012 Jul 25.

Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.

Am J Hum Genet 2012 Sep 16;91(3):553-64. Epub 2012 Aug 16.

Department of Neurology, Medical University, Sofia 1431, Bulgaria.

PLoS One 2012 20;7(3):e32849. Epub 2012 Mar 20.

Western Australian Institute for Medical Research/UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

Am J Med Genet B Neuropsychiatr Genet 2012 Jun 14;159B(4):392-404. Epub 2012 Mar 14.

Centre for Medical Research, Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

J Neurol 2012 May 19;259(5):906-11. Epub 2011 Oct 19.

Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.

Eur J Hum Genet 2011 Dec 29;19(12):1218-25. Epub 2011 Jun 29.

Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

Epilepsy Res 2011 Nov 13;97(1-2):198-207. Epub 2011 Sep 13.

Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

Epilepsy Res 2011 Sep 8;96(1-2):101-8. Epub 2011 Jun 8.

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, QEII Medical Centre, B block, Nedlands, WA 6009, Australia.

Neurobiol Dis 2011 Jun 12;42(3):368-80. Epub 2011 Feb 12.

Department of Clinical Neurosciences, Institute of Neurology, UCL, London NW3 2PF, UK.

Eur J Hum Genet 2011 Mar 17;19(3):326-33. Epub 2010 Nov 17.

Laboratory for Molecular Genetics, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Perth, Western Australia, Australia.

Am J Med Genet B Neuropsychiatr Genet 2011 Mar 13;156(2):204-14. Epub 2011 Jan 13.

SA Pathology, Women's and Children's Hospital, Adelaide, South Australia 5006, Australia.

BMC Genomics 2011 Mar 21;12:156. Epub 2011 Mar 21.

Department of Biology, ETH Zurich, 8092 Zurich, Switzerland.

Epileptic Disord 2010 Jun;12(2):117-24

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

Am J Med Genet B Neuropsychiatr Genet 2010 Mar;153B(2):428-437

Centre for Clinical Research in Neuropsychiatry and School of Psychiatry and Clinical Neurosciences, Graylands Hospital, The University of Western Australia, Perth, Australia.

Eur J Hum Genet 2009 Dec 17;17(12):1606-14. Epub 2009 Jun 17.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

Epilepsia 2009 Jul 23;50(7):1679-88. Epub 2009 Mar 23.

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

Am J Hum Genet 2009 May 9;84(5):664-71. Epub 2009 Apr 9.

Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

Am J Med Genet B Neuropsychiatr Genet 2009 Mar;150B(2):191-201

Medical University of Sofia, Bulgaria.

Am J Med Genet B Neuropsychiatr Genet 2008 Oct;147B(7):1159-66

Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

Genet Test 2007 ;11(4):455-8

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia.

Mol Immunol 2008 Jan 20;45(2):479-84. Epub 2007 Jul 20.

Servicio de Inmunología, Hospital Universitario 12 de Octubre, Avda Córdoba s/n, 28041 Madrid, Spain.

Eur J Pediatr 2007 Jul 30;166(7):747-9. Epub 2006 Dec 30.

Department of Neurology, P & A Kyriakou Children's Hospital, Thivon and Levadeias str, 115 27 Athens, Greece.

Brain 2007 Apr 14;130(Pt 4):1050-61. Epub 2007 Mar 14.

Department of Neurology, Medical University, Sofia, Bulgaria.

Nat Genet 2007 Apr;39(4):427-8

Orphanet J Rare Dis 2006 Aug 29;1:32. Epub 2006 Aug 29.

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Hospital Avenue, WA 6009 Nedlands, Australia.

Neuromuscul Disord 2006 Jul 27;16(7):449-53. Epub 2006 Jun 27.

Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain.

Mol Genet Metab 2006 May 8;88(1):93-5. Epub 2006 Feb 8.

Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria.

J Child Neurol 2006 Jan;21(1):20-5

Department of Neurology, Sofia Medical University, Bulgaria.

Am J Hum Genet 2005 Dec 2;77(6):1102-11. Epub 2005 Nov 2.

Institute of Human Genetics, Life & Brain Center, University of Bonn, D-53105 Bonn, Germany.

Bioessays 2005 Oct;27(10):1084-94

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Perth, Australia.

Am J Hum Genet 2005 Sep 12;77(3):468-76. Epub 2005 Jul 12.

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA.

Biochem Biophys Res Commun 2005 Jul;332(4):982-92

Laboratory for Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands 6009, Australia.

Neuromuscul Disord 2005 Jan 26;15(1):65-71. Epub 2004 Nov 26.

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia.

Am J Hum Genet 2004 Oct 20;75(4):596-609. Epub 2004 Aug 20.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

Ophthalmology 2004 Jul;111(7):1415-23

Department of Ophthalmology, University Hospital of Vienna, Vienna, Austria.

Psychiatr Genet 2004 Jun;14(2):101-6

Laboratory of Molecular Pathology, University Hospital of Obstetrics, Medical University Sofia, Bulgaria.

Am J Hum Genet 2004 Jan 19;74(1):50-61. Epub 2003 Dec 19.

N. I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.

Neuromuscul Disord 2003 Nov;13(9):729-36

Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

Genetics 2003 Nov;165(3):1579-86

Laboratoire Ecologie, Systématique et Evolution, Université Paris-Sud, F-91405 Orsay, France.

Nat Genet 2003 Oct 21;35(2):185-9. Epub 2003 Sep 21.

Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.

Hum Mutat 2003 Aug;22(2):129-35

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Australia.

Rapid Commun Mass Spectrom 2003 ;17(11):1195-202

Centre for Human Genetics, Edith Cowan University, Perth, Australia.

Am J Psychiatry 2003 Mar;160(3):425-9

Brain 2003 Feb;126(Pt 2):361-75

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

Nat Genet 2002 Jul 24;31(3):272-5. Epub 2002 Jun 24.

Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.

Pediatr Res 2002 May;51(5):602-6

Centre for Human Genetics, Edith Cowan University, Perth, W.A., Australia.

Neuromuscul Disord 2002 May;12(4):378-85

Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria.

Hum Mutat 2002 Mar;19(3):240-50

Centre for Human Genetics, Edith Cowan University, Joondalup, Australia.