Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Ruzzo EK"'
Autor:
Hannibal MC, Ruzzo EK, Miller LR, Betz B, Buchan JG, Knutzen DM, Barnett K, Landsverk ML, Brice A, LeGuern E, Bedford HM, Worrall BB, Lovitt S, Appel SH, Andermann E, Bird TD, Chance PF, Hannibal, M C, Ruzzo, E K, Miller, L R
Publikováno v:
Neurology; 5/19/2009, Vol. 72 Issue 20, p1755-1759, 5p
Autor:
Cirnigliaro M; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Chang TS; Movement Disorders Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Arteaga SA; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Pérez-Cano L; STALICLA Discovery and Data Science Unit, World Trade Center, Barcelona 08039, Spain., Ruzzo EK; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Gordon A; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Bicks LK; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Jung JY; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA 94304.; Department of Biomedical Data Science, Stanford University, Stanford, CA 94305., Lowe JK; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095., Wall DP; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA 94304.; Department of Biomedical Data Science, Stanford University, Stanford, CA 94305., Geschwind DH; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095.; Movement Disorders Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Aug; Vol. 120 (31), pp. e2215632120. Date of Electronic Publication: 2023 Jul 28.
Autor:
Polioudakis D; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., de la Torre-Ubieta L; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Langerman J; Department of Biological Chemistry, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Elkins AG; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Shi X; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA., Stein JL; Department of Genetics & UNC Neuroscience Center, University of North Carolina, Chapel Hill, Chapel Hill, NC, USA., Vuong CK; Department of Microbiology, Immunology and Molecular Genetics, UCLA, Los Angeles, CA, USA., Nichterwitz S; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Gevorgian M; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Biology, CSUN, Northridge, CA, USA., Opland CK; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Lu D; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Connell W; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Ruzzo EK; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Lowe JK; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Hadzic T; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Hinz FI; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Sabri S; Department of Biological Chemistry, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Lowry WE; Department of Molecular, Cell and Developmental Biology, UCLA, Los Angeles, CA, USA., Gerstein MB; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA; Department of Computer Science, Yale University, New Haven, CT 06520, USA; Department of Statistics and Data Science, Yale University, New Haven, CT 06520, USA., Plath K; Department of Biological Chemistry, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Geschwind DH; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. Electronic address: dhg@mednet.ucla.edu.
Publikováno v:
Neuron [Neuron] 2019 Sep 04; Vol. 103 (5), pp. 785-801.e8. Date of Electronic Publication: 2019 Jul 11.
Autor:
Ruzzo EK; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Pérez-Cano L; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Jung JY; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Wang LK; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Kashef-Haghighi D; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Hartl C; Bioinformatics IDP, University of California, Los Angeles, Los Angeles, CA, USA., Singh C; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA., Xu J; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA., Hoekstra JN; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Leventhal O; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Leppä VM; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Gandal MJ; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Paskov K; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Stockham N; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Polioudakis D; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Lowe JK; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Prober DA; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA., Geschwind DH; Department of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. Electronic address: dhg@mednet.ucla.edu., Wall DP; Department of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. Electronic address: dpwall@stanford.edu.
Publikováno v:
Cell [Cell] 2019 Aug 08; Vol. 178 (4), pp. 850-866.e26.
Autor:
Oz-Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Olender T; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Bar-Joseph I; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Zhu Y; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Marek-Yagel D; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Barozzi I; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Department of Surgery and Cancer, Imperial College London, London, UK., Osterwalder M; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Ruzzo EK; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA., Han Y; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA., Vos ESM; Oncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Hartman C; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center, Petach Tikva, Israel., Shamir R; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center, Petach Tikva, Israel., Weiss B; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Shapiro R; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center, Petach Tikva, Israel., Pode-Shakked B; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Tatarskyy P; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Milgrom R; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Schvimer M; Department of Pathology, Sheba Medical Center, Ramat Gan, Israel., Barshack I; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pathology, Sheba Medical Center, Ramat Gan, Israel., Imai DM; Comparative Pathology Laboratory, University of California Davis, Davis, CA, USA., Coleman-Derr D; Plant Gene Expression Center, USDA ARS, Albany, CA, USA., Dickel DE; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Nord AS; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Center for Neuroscience, University of California Davis, Davis, CA, USA., Afzal V; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., van Bueren KL; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Barnes RM; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Black BL; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Mayhew CN; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kuhar MF; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Pitstick A; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Tekman M; Centre for Nephrology, University College London, London, UK., Stanescu HC; Centre for Nephrology, University College London, London, UK., Wells JM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Center for Stem Cell and Organoid Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kleta R; Centre for Nephrology, University College London, London, UK., de Laat W; Oncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Pras E; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Visel A; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; School of Natural Sciences, University of California, Merced, CA, USA.; US Department of Energy Joint Genome Institute, Walnut Creek, CA, USA., Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel. Doron.Lancet@weizmann.ac.il., Anikster Y; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Yair.Anikster@sheba.health.gov.il.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. Yair.Anikster@sheba.health.gov.il.; Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Israel. Yair.Anikster@sheba.health.gov.il., Pennacchio LA; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA. LAPennacchio@lbl.gov.; US Department of Energy Joint Genome Institute, Walnut Creek, CA, USA. LAPennacchio@lbl.gov.; Comparative Biochemistry Program, University of California Berkeley, Berkeley, CA, USA. LAPennacchio@lbl.gov.
Publikováno v:
Nature [Nature] 2019 Jul; Vol. 571 (7763), pp. 107-111. Date of Electronic Publication: 2019 Jun 19.
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
Autor:
Heimer G; Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; Pinchas Borenstein Talpiot Medical Leadership Program, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: md@gmail.com., Eyal E; Cancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel., Zhu X; Institute for Genomic Medicine, Columbia University Medical School, Columbia University Medical Center, New York, NY 10032, USA., Ruzzo EK; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, USA., Marek-Yagel D; The Metabolic Disorder Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel., Sagiv D; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Otolaryngology Head and Neck Surgery, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel., Anikster Y; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; The Metabolic Disorder Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel., Reznik-Wolf H; Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel., Pras E; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel., Oz Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel., Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Nissenkorn A; Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; The Service for Rare Disorders, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel. Electronic address: Andreea.nissenkorn@sheba.health.gov.il.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Jan; Vol. 22 (1), pp. 93-101. Date of Electronic Publication: 2017 Sep 15.
Autor:
Zhang YH; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Burgess R; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Malone JP; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Glubb GC; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Helbig KL; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Vadlamudi L; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Kivity S; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Afawi Z; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Bleasel A; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Grattan-Smith P; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Grinton BE; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Bellows ST; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Vears DF; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Damiano JA; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Goldberg-Stern H; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Korczyn AD; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Dibbens LM; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Ruzzo EK; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Hildebrand MS; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Berkovic SF; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia., Scheffer IE; From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia. scheffer@unimelb.edu.au.
Publikováno v:
Neurology [Neurology] 2017 Sep 19; Vol. 89 (12), pp. 1210-1219. Date of Electronic Publication: 2017 Aug 25.
Autor:
Ruzzo EK; Center for Neurobehavioral Genetics and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA., Geschwind DH; Center for Neurobehavioral Genetics and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Publikováno v:
Nature neuroscience [Nat Neurosci] 2016 Apr; Vol. 19 (4), pp. 523-5. Date of Electronic Publication: 2016 Mar 21.
Autor:
Heimer G; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Med. Ctr., Israel. Electronic address: galih.md@gmail.com., Oz-Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel., Eyal E; Cancer Research Center, Pediatric Hemato/Oncology Unit, Edmond and Lily Safra Children's, Hospital, The Chaim Sheba Med. Ctr., Israel., Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University, Med. Ctr., Jerusalem, Israel., Nissenkorn A; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel., Ruzzo EK; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, USA., Szeinberg A; Pediatric Sleep clinic, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel., Maayan C; Familial Dysautonomia Centre, Pediatric Department, Hadassah Hospital, Hebrew University Hadassah, Medical School, Jerusalem, Israel., Mai-Zahav M; Pulmonary Institute, Schneider Children's Med. Ctr., Sackler Faculty of Medicine, Tel Aviv University, Israel., Efrati O; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel; Pediatric Pulmonary Unit, The Edmond and Lily Safra Children's Hospital, Sheba Med. Ctr., Israel., Pras E; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel; Danek Gertner Institute of Human Genetics, Sheba Med. Ctr., Ramat Gan, Israel., Reznik-Wolf H; Danek Gertner Institute of Human Genetics, Sheba Med. Ctr., Ramat Gan, Israel., Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical School, Columbia University Med. Ctr., New York, NY 10032, USA., Anikster Y; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel., Shalev SA; Genetic Institute, Ha'Emek Med. Ctr., Afula 18101, Israel; Rappaport Faculty of Medicine, Technion, Israel., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University, Med. Ctr., Jerusalem, Israel., Ben Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address: bruria.benzeev@sheba.health.gov.il.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2016 Jan; Vol. 20 (1), pp. 69-79. Date of Electronic Publication: 2015 Oct 22.
Autor:
Zhu X; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Petrovski S; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.; Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Australia., Xie P; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.; Present address: Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Ruzzo EK; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Lu YF; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., McSweeney KM; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Ben-Zeev B; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Nissenkorn A; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Anikster Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Oz-Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Dhindsa RS; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Hitomi Y; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.; Present address: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan., Schoch K; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Spillmann RC; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Heimer G; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Pinchas Borenstein Talpiot Medical Leadership Program, Pediatric Neurology Unit, Chaim Sheba Medical Center, Tel HaShomer, Israel., Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Tzadok M; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Han Y; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Worley G; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Goldstein J; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Jiang YH; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.; Department of Neurobiology, Duke University, Durham, North Carolina, USA., Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Pras E; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel., Shashi V; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., McHale D; UCB NewMedicines, Slough, UK., Need AC; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.; Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK., Goldstein DB; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Oct; Vol. 17 (10), pp. 774-81. Date of Electronic Publication: 2015 Jan 15.