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208 Ergebnis(se)

Forschungsprojekt(e)

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children Oslo University Hospital, Ullevaal NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Theraputic drug monitoring of patients across the ages at a referral center SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

Noninvasive dynamic neuroimaging in epilepsy Instituto Superior Técnico LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

Innovative static magnetic field therapy for refractary epilepsy and Dravet syndrome: Experimental, numerical and clinical research Hospital Materno-Infantil Teresa Herrera Fundación Profesor Nóvoa Santos

Epilepsy genetics: To solve unsolvable cases with combined OMICs tools University Hospital Motol Department of Pediatric Neurology

Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders University of Oulu Biocenter Oulu

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathies Vall d'Hebron Institut de Recerca VHIR Vall d'Hebron Institut de Recerca

Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem) Antwerp University Hospital - UZA Pediatric neurology/Kinderneurologie

GAGA: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases Antwerp University Hospital - UZA Pediatric neurology/Kinderneurologie

Identification and characterisation of genes causing congenital anomalies and intellectual disability UZ Leuven - Campus Gasthuisberg Centrum Menselijke Erfelijkheid - UZ Leuven

Molecular and functional pathogenesis in NF1 and related diseases UZ Leuven - Campus Gasthuisberg Centrum Menselijke Erfelijkheid - UZ Leuven

MECPer-3D: Personalisierte MECP2-Gentherapie unter Verwendung der CRISPR / Cas9-Technologie gekoppelt mit AAV-vermittelter Abgabe in 3D-Zellkultur- und KI-Mäusen Zentralinstitut für Seelische Gesundheit (ZI) Zentralinstitut für Seelische Gesundheit

Charakterisierung HCMV-kodierter regulatorischen Proteine als Target für antivirale Therapie Virologisches Institut des Universitätsklinikums Erlangen Institut für Klinische und Molekulare Virologie

Interferenz der viralen Effektorproteine pp71 und IE1 mit der intrinsischen und nativen Immunität gegen Cytomegalovirus-Infektionen Virologisches Institut des Universitätsklinikums Erlangen Institut für Klinische und Molekulare Virologie

EpiScanGIS: Überwachung der Meningokokken-Infektionen in Deutschland Institut für Hygiene und Mikrobiologie der Universität Würzburg Nationales Referenzzentrum für Meningokokken

CONNECT-GENERATE: Nationaler Forschungsverbund zur Erklärung, Kategorisierung und Behandlung autoimmuner Hirnentzündungen (Enzephalitiden) und verwandter Erkrankungen Charité - Universitätsmedizin Berlin (CCM) Klinik für Neurologie (CCM)

Funktionelle Charakterisierung der Proteinkinase CDKL5 Max-Planck-Institut für molekulare Genetik Abteilung Human Molecular Genetics

Arbovirus-Surveillance und die Entwicklung von Risikokarten Bernhard-Nocht-Institut für Tropenmedizin Sektion Molekularbiologie und Immunologie - Arbeitsgruppe Schmidt-Chanasit

Entwicklung therapeutischer Strategien für das Rett Syndrom Universitätsmedizin Göttingen Klinik für Kinder- und Jugendmedizin

Klinische Forschung zur Prävalenz, Diagnose und klinischer Charakteristika zerebraler Herpesviruserkrankung Universitätsklinikum Aachen Klinik für Kinder- und Jugendmedizin

Genetische Mechanismen epileptischer Enzephalopathien (FOR 2715: Epileptogenese von genetischen Epilepsien) Universitätsklinikum Aachen Klinik für Neurologie

EuroEPINOMICS: Genetics of rare epilepsy syndromes - RES - DE Universitätsklinikum Essen Institut für Humangenetik

Erzeugung und Charakterisierung neuer Mausmodelle sowie transcription profiling (FOR 2715: Epileptogenese von genetischen Epilepsien) Cologne Center for Genomics (CCG) der Universität zu Köln Cologne Center for Genomics

Genetik der kortikalen Fehlbildungen Universitätsklinikum Carl Gustav Carus an der TU Dresden Institut für Klinische Genetik

Genetische Mechanismen epileptischer Enzephalopathien (FOR 2715: Epileptogenese von genetischen Epilepsien) Universitätsklinikum Schleswig-Holstein - Campus Kiel Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie

CONNECT-GENERATE: Nationaler Forschungsverbund zur Erklärung, Kategorisierung und Behandlung autoimmuner Hirnentzündungen (Enzephalitiden) und verwandter Erkrankungen Universitätsklinikum Schleswig-Holstein - Campus Kiel Klinik für Neurologie

CONNECT-GENERATE: Nationaler Forschungsverbund zur Erklärung, Kategorisierung und Behandlung autoimmuner Hirnentzündungen (Enzephalitiden) und verwandter Erkrankungen Universitätsklinikum Jena Klinik für Neurologie

Entwicklung therapeutischer Strategien für das Rett Syndrom Universitätsklinikum Jena Klinik für Neuropädiatrie

FinnDisMice- Mouse Models for Finnish Disease Heritage University of Helsinki

Clinical research study on neurofibromatosis type 1 in Finland University of Turku Institute of Biomedicine

Pharmacodynamic study of treatments used in congenital toxoplasmosis CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse Service de parasitologie et de mycologie médicale - Institut des Agents Infectieux

Neurofibromatosis type 1 Disease Model Faculty of Medicine and University Hospital Motol Department of Pediatrics

CliNeF1 : First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1 UPR4301 Centre de biophysique moléculaire (CBM) Equipe signalisation cellulaire et neurofibromatose

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates CHRU de Tours - Hôpital Bretonneau Service de Pneumologie et explorations fonctionnelles respiratoires

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - FR Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

Evalution of T. gondii (from maternofoetal or neonatal sampling) molecular typing therapeutic interest UFR de Médecine de Reims IFR 53 Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

Virulence factors in T. gondii; ABC binding protein; role of matricial metalloproteinases in cell invasion UFR de Médecine de Reims IFR 53 Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

Pharmacological approaches for the treatment of NF1 bone manifestations Hôpitaux Universitaires Henri Mondor CHU Henri Mondor

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases AP-HP.Centre - Université de Paris - Hôpital Cochin Service de Médecine Génomique des Maladies de Système et d'Organe

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1-FR ENS - École Normale Supérieure Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

Innate immune deficiencies in severe brainstem infections IMAGINE - Institut des Maladies Génétiques Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

Nano-droplet augmented brain therapy controlled by micro-machined capacitive transducers CLCC Institut Gustave Roussy Institut Gustave Roussy

Preclinical research on diseases caused by MI dysfunction Faculté de Médecine de la Timone Marseille Medical Genetics Center - Inserm U1251

TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - FR Faculté de Médecine de la Timone Marseille Medical Genetics Center - Inserm U1251

Pre-clinical research for diseases caused by KCNQ2 dysfunction Faculté de Médecine de la Timone Marseille Medical Genetics Center - Inserm U1251

TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - IT Azienda Ospedaliera Universitaria "Federico II" Dipartimento di Neuroscienze

Analysis of KDM5C mutations detected in patients with ASD and ID Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR Human Molecular Neurogenetics Laboratoty

Innovative therapeutic approaches for CDKL5 Deficiency Disorder, a rare neurodevelopmental disorder of genetic origin ISS - Istituto Superiore di Sanità Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

Innovative therapeutic approaches for Rett syndrome, a rare neurodevelopmental disorder of genetic origin ISS - Istituto Superiore di Sanità Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

Rescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway Consiglio Nazionale delle Ricerche Istituto di Neuroscienze

Congenital Rett Syndrome cellular and mouse models for the study of FOXG1 impact on forebrain neurogenesis IRCCS Ospedale San Raffaele Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

Exploiting whole-brain strategies of gene therapy and novel therapeutic targets in Rett syndrome mouse models IRCCS Ospedale San Raffaele Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures Consiglio Nazionale delle Ricerche - NEST Istituto di Nanoscienze

Analysis of HLA genes to assess genetic susceptibility to vaccines as a component of the pathogenesis of Rett syndrome Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte U.O.C. di Genetica Medica

Study of the moderating influence of the complex ENA / VASP on synaptic defects induced by mutations in MECP2 in neurons of mice and induced pluripotent stem cells obtained from patients (iPSC) Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte U.O.C. di Genetica Medica

Study protocol for the application of the test array-CGH in prenatal diagnosis in Rett syndrome Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte U.O.C. di Genetica Medica

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - IT Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte U.O.C. di Genetica Medica

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - IT FONDAZIONE TOSCANA LIFE SCIENCES Core Research Laboratory

Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures CNR - Istituto di Neuroscienze Istituto di Neuroscienze

Post-transcriptional regulation of functionally significant gene sets during neurodevelopment of Rett syndrome Hospital for Sick Children, Research Institute

Ticking on Pandora's box Amsterdam UMC Amsterdams UMC Multidisciplinair Lyme Centrum

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- NL Institution: Information not provided - NL

Drug discovery for GNAO1 mediated disease, elucidating the mechanisms underlying a spectrum of neurodevelopmental disorders LUMC - Leids Universitair Medisch Centrum

Effectiveness and safety of mTOR-inhibitor in patients with tuberous sclerosis complex Oslo University Hospital, Ullevaal NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Epitop Spezifität von MOG Antikörpern Medizinische Universität Innsbruck Universitätsklinik für Neurologie

Neuro-MIG: European Network on Brain Malformations - AT Institution: Information not provided - AT

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- AT Institution: Information not provided - AT

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- PL Institution: Information not provided - PL

LIMP-2 studies: from clinical genetics to functional genomics and back (studies in action myoclonus-renal failure syndrome (AMRF)) Instituto de Biologia Molecular e Celular Unidade de Biologia do Lisossoma e do Peroxissoma

From the GABA-B receptor structure to brain functions and therapeutic concepts Universitätsspital Basel Departement Biomedizin

Shedding light on the pathophysiology of pneumococcal and listeric meningitis by complementary disease models and non- invasive methods to evaluate novel therapeutics Universität Bern Institut für Infektionskrankheiten

Human antibodies to tick-borne flaviviruses Istituto di Ricerca in Biomedicina Istituto di Ricerca in Biomedicina (IRB)

Genetic investigations in Children with Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A collaborative, prospective, tertiary care center study Centre Médical Universitaire - CMU Département de médecine génétique et développement

Genetic investigations in Children with Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A collaborative, prospective, tertiary care center study Hôpital des Enfants - Hôpitaux Universitaires de Genève HUG Unité de neuropédiatrie

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal

NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital

NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico

LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

Innovative static magnetic field therapy for refractary epilepsy and Dravet syndrome: Experimental, numerical and clinical research
Hospital Materno-Infantil Teresa Herrera

Fundación Profesor Nóvoa Santos

Epilepsy genetics: To solve unsolvable cases with combined OMICs tools
University Hospital Motol

Department of Pediatric Neurology

Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu

Biocenter Oulu

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Vall d'Hebron Institut de Recerca VHIR

Vall d'Hebron Institut de Recerca

Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Antwerp University Hospital - UZA

Pediatric neurology/Kinderneurologie

GAGA: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
Antwerp University Hospital - UZA

Pediatric neurology/Kinderneurologie

Identification and characterisation of genes causing congenital anomalies and intellectual disability
UZ Leuven - Campus Gasthuisberg

Centrum Menselijke Erfelijkheid - UZ Leuven

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg

Centrum Menselijke Erfelijkheid - UZ Leuven

MECPer-3D: Personalisierte MECP2-Gentherapie unter Verwendung der CRISPR / Cas9-Technologie gekoppelt mit AAV-vermittelter Abgabe in 3D-Zellkultur- und KI-Mäusen
Zentralinstitut für Seelische Gesundheit (ZI)

Zentralinstitut für Seelische Gesundheit

Charakterisierung HCMV-kodierter regulatorischen Proteine als Target für antivirale Therapie
Virologisches Institut des Universitätsklinikums Erlangen

Institut für Klinische und Molekulare Virologie

Interferenz der viralen Effektorproteine pp71 und IE1 mit der intrinsischen und nativen Immunität gegen Cytomegalovirus-Infektionen
Virologisches Institut des Universitätsklinikums Erlangen

Institut für Klinische und Molekulare Virologie

EpiScanGIS: Überwachung der Meningokokken-Infektionen in Deutschland
Institut für Hygiene und Mikrobiologie der Universität Würzburg

Nationales Referenzzentrum für Meningokokken

CONNECT-GENERATE: Nationaler Forschungsverbund zur Erklärung, Kategorisierung und Behandlung autoimmuner Hirnentzündungen (Enzephalitiden) und verwandter Erkrankungen
Charité - Universitätsmedizin Berlin (CCM)

Klinik für Neurologie (CCM)

Funktionelle Charakterisierung der Proteinkinase CDKL5
Max-Planck-Institut für molekulare Genetik

Abteilung Human Molecular Genetics

Arbovirus-Surveillance und die Entwicklung von Risikokarten
Bernhard-Nocht-Institut für Tropenmedizin

Sektion Molekularbiologie und Immunologie - Arbeitsgruppe Schmidt-Chanasit

Entwicklung therapeutischer Strategien für das Rett Syndrom
Universitätsmedizin Göttingen

Klinik für Kinder- und Jugendmedizin

Klinische Forschung zur Prävalenz, Diagnose und klinischer Charakteristika zerebraler Herpesviruserkrankung
Universitätsklinikum Aachen

Klinik für Kinder- und Jugendmedizin

Genetische Mechanismen epileptischer Enzephalopathien (FOR 2715: Epileptogenese von genetischen Epilepsien)
Universitätsklinikum Aachen

Klinik für Neurologie

EuroEPINOMICS: Genetics of rare epilepsy syndromes - RES - DE
Universitätsklinikum Essen

Institut für Humangenetik

Erzeugung und Charakterisierung neuer Mausmodelle sowie transcription profiling (FOR 2715: Epileptogenese von genetischen Epilepsien)
Cologne Center for Genomics (CCG) der Universität zu Köln

Cologne Center for Genomics

Genetik der kortikalen Fehlbildungen
Universitätsklinikum Carl Gustav Carus an der TU Dresden

Institut für Klinische Genetik

Genetische Mechanismen epileptischer Enzephalopathien (FOR 2715: Epileptogenese von genetischen Epilepsien)
Universitätsklinikum Schleswig-Holstein - Campus Kiel

Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie

CONNECT-GENERATE: Nationaler Forschungsverbund zur Erklärung, Kategorisierung und Behandlung autoimmuner Hirnentzündungen (Enzephalitiden) und verwandter Erkrankungen
Universitätsklinikum Schleswig-Holstein - Campus Kiel

Klinik für Neurologie

CONNECT-GENERATE: Nationaler Forschungsverbund zur Erklärung, Kategorisierung und Behandlung autoimmuner Hirnentzündungen (Enzephalitiden) und verwandter Erkrankungen
Universitätsklinikum Jena

Klinik für Neurologie

Entwicklung therapeutischer Strategien für das Rett Syndrom
Universitätsklinikum Jena

Klinik für Neuropädiatrie

FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku

Institute of Biomedicine

Pharmacodynamic study of treatments used in congenital toxoplasmosis
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse

Service de parasitologie et de mycologie médicale - Institut des Agents Infectieux

Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol

Department of Pediatrics

CliNeF1 : First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)

Equipe signalisation cellulaire et neurofibromatose

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates
CHRU de Tours - Hôpital Bretonneau

Service de Pneumologie et explorations fonctionnelles respiratoires

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

Evalution of T. gondii (from maternofoetal or neonatal sampling) molecular typing therapeutic interest
UFR de Médecine de Reims IFR 53

Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

Virulence factors in T. gondii; ABC binding protein; role of matricial metalloproteinases in cell invasion
UFR de Médecine de Reims IFR 53

Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

Pharmacological approaches for the treatment of NF1 bone manifestations
Hôpitaux Universitaires Henri Mondor

CHU Henri Mondor

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin

Service de Médecine Génomique des Maladies de Système et d'Organe

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1-FR
ENS - École Normale Supérieure

Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

Innate immune deficiencies in severe brainstem infections
IMAGINE - Institut des Maladies Génétiques

Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

Nano-droplet augmented brain therapy controlled by micro-machined capacitive transducers
CLCC Institut Gustave Roussy

Institut Gustave Roussy

Preclinical research on diseases caused by MI dysfunction
Faculté de Médecine de la Timone

Marseille Medical Genetics Center - Inserm U1251

TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - FR
Faculté de Médecine de la Timone

Marseille Medical Genetics Center - Inserm U1251

Pre-clinical research for diseases caused by KCNQ2 dysfunction
Faculté de Médecine de la Timone

Marseille Medical Genetics Center - Inserm U1251

TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - IT
Azienda Ospedaliera Universitaria "Federico II"

Dipartimento di Neuroscienze

Analysis of KDM5C mutations detected in patients with ASD and ID
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR

Human Molecular Neurogenetics Laboratoty

Innovative therapeutic approaches for CDKL5 Deficiency Disorder, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità

Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

Innovative therapeutic approaches for Rett syndrome, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità

Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

Rescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
Consiglio Nazionale delle Ricerche

Istituto di Neuroscienze

Congenital Rett Syndrome cellular and mouse models for the study of FOXG1 impact on forebrain neurogenesis
IRCCS Ospedale San Raffaele

Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

Exploiting whole-brain strategies of gene therapy and novel therapeutic targets in Rett syndrome mouse models
IRCCS Ospedale San Raffaele

Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
Consiglio Nazionale delle Ricerche - NEST

Istituto di Nanoscienze

Analysis of HLA genes to assess genetic susceptibility to vaccines as a component of the pathogenesis of Rett syndrome
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte

U.O.C. di Genetica Medica

Study of the moderating influence of the complex ENA / VASP on synaptic defects induced by mutations in MECP2 in neurons of mice and induced pluripotent stem cells obtained from patients (iPSC)
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte

U.O.C. di Genetica Medica

Study protocol for the application of the test array-CGH in prenatal diagnosis in Rett syndrome
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte

U.O.C. di Genetica Medica

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - IT
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte

U.O.C. di Genetica Medica

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - IT
FONDAZIONE TOSCANA LIFE SCIENCES

Core Research Laboratory

Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
CNR - Istituto di Neuroscienze

Istituto di Neuroscienze

Post-transcriptional regulation of functionally significant gene sets during neurodevelopment of Rett syndrome
Hospital for Sick Children, Research Institute

Ticking on Pandora's box
Amsterdam UMC

Amsterdams UMC Multidisciplinair Lyme Centrum

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- NL
Institution: Information not provided - NL

Drug discovery for GNAO1 mediated disease, elucidating the mechanisms underlying a spectrum of neurodevelopmental disorders
LUMC - Leids Universitair Medisch Centrum

Effectiveness and safety of mTOR-inhibitor in patients with tuberous sclerosis complex
Oslo University Hospital, Ullevaal

NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Epitop Spezifität von MOG Antikörpern
Medizinische Universität Innsbruck

Universitätsklinik für Neurologie

Neuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- AT
Institution: Information not provided - AT

Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- PL
Institution: Information not provided - PL

LIMP-2 studies: from clinical genetics to functional genomics and back (studies in action myoclonus-renal failure syndrome (AMRF))
Instituto de Biologia Molecular e Celular

Unidade de Biologia do Lisossoma e do Peroxissoma

From the GABA-B receptor structure to brain functions and therapeutic concepts
Universitätsspital Basel

Departement Biomedizin

Shedding light on the pathophysiology of pneumococcal and listeric meningitis by complementary disease models and non- invasive methods to evaluate novel therapeutics
Universität Bern

Institut für Infektionskrankheiten

Human antibodies to tick-borne flaviviruses
Istituto di Ricerca in Biomedicina

Istituto di Ricerca in Biomedicina (IRB)

Genetic investigations in Children with Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A collaborative, prospective, tertiary care center study
Centre Médical Universitaire - CMU

Département de médecine génétique et développement

Genetic investigations in Children with Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A collaborative, prospective, tertiary care center study
Hôpital des Enfants - Hôpitaux Universitaires de Genève HUG

Unité de neuropédiatrie

Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genève

Département de Génétique et Evolution

Immunogenetics of Viral Infections - Focus on human herpes simplex virus I
Centre Hospitalier Universitaire Vaudois CHUV

Service des maladies infectieuses

Impact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1
Instituto de Investigación Germans Trias i Pujol

Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

MECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - ES
Vall d'Hebron Institut de Recerca VHIR

Grupo de Terapia Genética en el Sistema Nervioso