D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.

Autor: Aledo-Serrano Á; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain. aaledo@synaptia.org.; Initiative for Neuroscience (INCE) Foundation, Madrid, Spain. aaledo@synaptia.org.; Neuroscience Institute, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain. aaledo@synaptia.org., Valls-Carbó A; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Initiative for Neuroscience (INCE) Foundation, Madrid, Spain., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Amplexa Genetics A/S (H.A.D.), Odense, Denmark., Groeppel G; Department of Paediatrics and Adolescent Medicine and Department of Neurology, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria., Hartlieb T; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen Clinic, Vogtareuth, Germany.; Research Institute 'Rehabilitation, ' PMU Salzburg, Transition, PalliationSalzburg, Austria., Pascual I; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain., Herraez E; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Department of Neurophysiology, Rey Juan Carlos University Hospital, Madrid, Spain., Cabal B; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Department of Neurology, Puerta de Hierro University Hospital, Madrid, Spain., García-Morales I; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Epilepsy Unit, Department of Neurology, Clinico San Carlos University Hospital, Madrid, Spain., Toledano R; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Epilepsy Unit, Department of Neurology, Clinico San Carlos University Hospital, Madrid, Spain., Budke M; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Department of Neurosurgery, Niño Jesus University Hospital, Madrid, Spain., Beltran-Corbellini Á; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain., Baldassari S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France., Coras R; Department of Neuropathology, University Hospital, Erlangen, Germany., Kobow K; Department of Neuropathology, University Hospital, Erlangen, Germany., Herrera DM; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Epilepsy Unit, Department of Neurology, Kennedy University Hospital, Bogota, Colombia., Del Barrio A; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain., Dahl HA; Amplexa Genetics A/S (H.A.D.), Odense, Denmark., Del Pino I; Institute of Neurosciences (IN), Higher Council for Scientific Research-Miguel Hernandez University, Alicante, Spain., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France., Blumcke I; Department of Neuropathology, University Hospital, Erlangen, Germany., Møller RS; Neuroscience Institute, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Gil-Nagel A; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Initiative for Neuroscience (INCE) Foundation, Madrid, Spain.

Publikováno v: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2023 Sep; Vol. 20 (5), pp. 1294-1304. Date of Electronic Publication: 2023 Jun 06.

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.

Autor: Frasca A; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Pavlidou E; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Bizzotto M; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Gao Y; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Balestra D; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Pinotti M; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Dahl HA; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Mazarakis ND; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Landsberger N; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom., Kinali M; Department of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.

Publikováno v: Neurology. Genetics [Neurol Genet] 2022 Mar 09; Vol. 8 (2), pp. e666. Date of Electronic Publication: 2022 Mar 09 (Print Publication: 2022).

Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.

Autor: Willimsky EK; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany., Munzig A; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany., Mayer K; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany., Biskup S; CeGaT GmbH, Tübingen, Germany., Abicht A; Medical Genetics Center-MGZ, Munich, Germany., Hoertnagel K; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany., Voss HV; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany., Klein HG; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany., Rost I; Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany., Larsen LHG; Amplexa Genetics, Odense, Denmark., Dahl HA; Amplexa Genetics, Odense, Denmark., Hoelz H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany., Stuelpnagel CV; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.; Paracelsus Medical University, Salzburg, Austria., Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.; Comprehensive Epilepsy Center (Pediatric section), Ludwig-Maximilians University of Munich, Munich, Germany.

Publikováno v: Neuropediatrics [Neuropediatrics] 2021 Apr; Vol. 52 (2), pp. 92-97. Date of Electronic Publication: 2020 Oct 21.

Identification of male heterogametic sex-determining regions on the Atlantic herring Clupea harengus genome.

Autor: Í Kongsstovu S; Amplexa Genetics A/S, Tórshavn, Faroe Islands.; Faculty of Science and Technology, University of the Faroe Islands, Tórshavn, Faroe Islands.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Dahl HA; Amplexa Genetics A/S, Tórshavn, Faroe Islands., Gislason H; Faculty of Science and Technology, University of the Faroe Islands, Tórshavn, Faroe Islands., Homrum E; Faroe Marine Research Institute, Tórshavn, Faroe Islands., Jacobsen JA; Faroe Marine Research Institute, Tórshavn, Faroe Islands., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Mikalsen SO; Faculty of Science and Technology, University of the Faroe Islands, Tórshavn, Faroe Islands.

Publikováno v: Journal of fish biology [J Fish Biol] 2020 Jul; Vol. 97 (1), pp. 190-201. Date of Electronic Publication: 2020 May 22.

Cryptic Relatedness among cases and controls in two isolated populations

Autor: Als, Thomas Damm, Dahl, HA, Wikman, Friedrik, Zacharov, Tracey Flint, Wang, AG, Marcheco-Teruel, B, Ørntoft, Torben Falck, Børglum, Anders, Vang, M, Kruse, TA, Mors, Ole

Publikováno v: Als, T D, Dahl, HA, Wikman, F, Zacharov, T F, Wang, AG, Marcheco-Teruel, B, Ørntoft, T F, Børglum, A, Vang, M, Kruse, TA & Mors, O 2006, Cryptic Relatedness among cases and controls in two isolated populations . in American Journal of Medical Genetics Part B-Neuropsychiatric Genetics . vol. 141B, pp. 744-744, Cagliari, Italy, 28/10/2006 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::766dd41545c8da741b4330df5bf16892
https://pure.au.dk/portal/da/publications/cryptic-relatedness-among-cases-and-controls-in-two-isolated-populations(18ae3280-85f6-11db-bee9-02004c4f4f50).html