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Wyszukujesz frazę ""Laridon, Annick"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł :
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Autorzy :
Marini, Carla
Porro, Alessandro
Rastetter, Agnès
Dalle, Carine
Rivolta, Ilaria
Bauer, Daniel
Oegema, Renske
Nava, Caroline
Parrini, Elena
Mei, Davide
Mercer, Catherine
Dhamija, Radhika
Chambers, Chelsea
Coubes, Christine
Thevenon, Julien
Kuentz, Paul
Julia, Sophie
Pasquier, Laurent
Dubourg, Christèle
Carré, Wilfrid
Rosati, Anna
Melani, Federico
Pisano, Tiziana
Giardino, Maria
Innes, A Micheil
Alembik, Yves
Scheidecker, Sophie
Santos, Manuela
Figueiroa, Sonia
Garrido, Cristina
Fusco, Carlo
Frattini, Daniele
Spagnoli, Carlotta
Binda, Anna
Granata, Tiziana
Ragona, Francesca
Freri, Elena
Franceschetti, Silvana
Canafoglia, Laura
Castellotti, Barbara
Gellera, Cinzia
Milanesi, Raffaella
Mancardi, Maria Margherita
Clark, Damien
Kok, Fernando
Helbig, Katherine
Ichikawa, Shoji
Sadler, Laurie
Neupauerová, Jana
Laššuthová, Petra
Šterbová, Katalin
Laridon, Annick
Brilstra, Eva
Koeleman, Bobby
Lemke, Johannes
Zara, Federico
Striano, Pasquale
Soblet, Julie
Smits, Guillaume
Deconinck, Nicolas
Barbuti, Andrea
DiFrancesco, Dario
Leguern, Eric
Guerrini, Renzo
Santoro, Bina
Hamacher, Kay
Thiel, Gerhard
Moroni, Anna
Difrancesco, Jacopo
Depienne, Christel
Pokaż więcej
Temat :
epilepsy
intellectual disability
HCN1
clinical spectrum
ion channel
[SDV]Life Sciences [q-bio]
Źródło :
Brain - A Journal of Neurology
Brain - A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Tytuł :
Can IQ predict parent-reported behavioral and emotional problems in children with neurological deficiencies?
Autorzy :
Peijnenborgh, Janneke C A W
van Abeelen, Sandra A M
Hurks, Petra P M
Laridon, Annick M
Klinkenberg, Sylvia
Aldenkamp, Albert P
Vles, Johan S H
Hendriksen, Jos G M
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Temat :
Children
Assessment
Neurology
IQ
Emotional functioning
Behavioral functioning
VERBAL-PERFORMANCE DISCREPANCIES
PEDIATRIC-PATIENTS
DISABILITIES
LATERALITY
PROFILES
LESIONS
Źródło :
European Journal of Paediatric Neurology, 21(2). ELSEVIER SCI LTD
Tytuł :
Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? - Report of two families
Autorzy :
Courtens, Winnie
Schramme, Inge
Laridon, Annick
Pokaż więcej
Źródło :
American Journal of Medical Genetics. Part A; March 2008, Vol. 146 Issue: 6 p758-763, 6p
Periodyk
Tytuł :
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Autorzy :
Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.; EuroEPINOMICS RES Consortium.
Porro A; Department of Biosciences, University of Milan, Milan, Italy.
Rastetter A; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Dalle C; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Rivolta I; School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy.
Bauer D; Computational Biology and Simulation Group, Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Nava C; EuroEPINOMICS RES Consortium.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris, France.
Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Mercer C; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Dhamija R; Department of Clinical Genomics and Neurology, Mayo Clinic, Phoenix, AZ, USA.
Chambers C; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA.
Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Montpellier, France.
Thévenon J; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
Kuentz P; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; Génétique Biologique Histologie, CHRU de Besançon, Besançon, France.
Julia S; Service de génétique médicale, Pôle de biologie, CHU de Toulouse - Hôpital Purpan, Toulouse, France.
Pasquier L; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de causes rares (CRDI), CHU Rennes, Rennes, France.
Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France.
Carré W; Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France.
Rosati A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Melani F; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Giardino M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Alembik Y; Laboratoires de génétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Scheidecker S; Laboratoires de génétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Santos M; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
Figueiroa S; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
Garrido C; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
Fusco C; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Frattini D; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Spagnoli C; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Binda A; School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy.
Granata T; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ragona F; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Castellotti B; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Milanesi R; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
Mancardi MM; Child Neuropsychiatry Unit, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Clark DR; Women's and Children's Hospital, Adelaide, Australia.
Kok F; Mendelics Genomic Analysis, Sao Paulo, SP, Brazil.
Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
Sadler L; Division of Genetics, Department of Pediatrics, Oishei Children's Hospital, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, State University of New York, Buffalo, NY, USA.
Neupauerová J; Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Laššuthova P; Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Šterbová K; EuroEPINOMICS RES Consortium.; Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Laridon A; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.
Brilstra E; EuroEPINOMICS RES Consortium.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Koeleman B; EuroEPINOMICS RES Consortium.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Lemke JR; EuroEPINOMICS RES Consortium.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Zara F; Laboratory of Neurogenetics and Neuroscience, Institute G Gaslini, Genova, Italy.
Striano P; EuroEPINOMICS RES Consortium.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G Gaslini' Institute, Genova, Italy.
Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
Smits G; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
Deconinck N; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, ULB, Brussels, Belgium.
Barbuti A; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
DiFrancesco D; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
LeGuern E; EuroEPINOMICS RES Consortium.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris, France.
Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.; EuroEPINOMICS RES Consortium.
Santoro B; Department of Neuroscience, Columbia University, New York, NY, USA.
Hamacher K; Computational Biology and Simulation Group, Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
Thiel G; Membrane Biophysics, Deparment of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
Moroni A; Department of Biosciences, University of Milan, Milan, Italy.
DiFrancesco JC; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Neurology, San Gerardo Hospital, University Milano-Bicocca, Monza, Italy.
Depienne C; EuroEPINOMICS RES Consortium.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
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Źródło :
Brain : a journal of neurology [Brain] 2018 Nov 01; Vol. 141 (11), pp. 3160-3178.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy, Generalized/*genetics
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/*genetics
Mutation/*genetics
Potassium Channels/*genetics
Spasms, Infantile/*genetics
Adolescent ; Adult ; Aged ; Animals ; CHO Cells ; Child ; Child, Preschool ; Cricetulus ; Electric Stimulation ; Female ; Genetic Association Studies ; Humans ; Infant ; Male ; Membrane Potentials/genetics ; Middle Aged ; Models, Molecular ; Mutagenesis, Site-Directed/methods ; Young Adult
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
Can IQ predict parent-reported behavioral and emotional problems in children with neurological deficiencies?
Autorzy :
Peijnenborgh JCAW; Kempenhaeghe, Department of Neurological Learning Disabilities, P.O. Box 61, 5590 AB Heeze, The Netherlands. Electronic address: .
van Abeelen SAM; Kempenhaeghe, Department of Neurological Learning Disabilities, P.O. Box 61, 5590 AB Heeze, The Netherlands. Electronic address: .
Hurks PPM; Maastricht University, Faculty of Psychology and Neuroscience, Universiteitssingel 40, 6229 ER Maastricht, The Netherlands. Electronic address: .
Laridon AM; Kempenhaeghe, Department of Neurological Learning Disabilities, P.O. Box 61, 5590 AB Heeze, The Netherlands. Electronic address: .
Klinkenberg S; Kempenhaeghe, Department of Neurological Learning Disabilities, P.O. Box 61, 5590 AB Heeze, The Netherlands; Department of Neurology, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands. Electronic address: .
Aldenkamp AP; Kempenhaeghe Epilepsy Centre, Department of Behavioral Sciences, P.O. Box 61, 5590 AB Heeze, The Netherlands. Electronic address: .
Vles JSH; Department of Neurology, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands. Electronic address: .
Hendriksen JGM; Kempenhaeghe, Department of Neurological Learning Disabilities, P.O. Box 61, 5590 AB Heeze, The Netherlands. Electronic address: .
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2017 Mar; Vol. 21 (2), pp. 336-343. Date of Electronic Publication: 2016 Sep 23.
Typ publikacji :
Journal Article
MeSH Terms :
Intelligence Tests*
Parents*
Affective Symptoms/*complications
Affective Symptoms/*psychology
Nervous System Diseases/*complications
Nervous System Diseases/*psychology
Problem Behavior/*psychology
Adolescent ; Aging/psychology ; Child ; Child, Preschool ; Female ; Humans ; Male ; Predictive Value of Tests ; Sex Characteristics ; Wechsler Scales
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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