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32 Resultaat/Resultaten
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Onderzoeksprojecten
DUITSLAND
Bayern
MÜNCHEN
mitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik
DUITSLAND
Bayern
MÜNCHEN
mitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik
DUITSLAND
Bayern
MÜNCHEN
GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - Patient Registry -DE (partner 2)
LMU Klinikum der Universität München - Campus Großhadern
Neurologische Klinik und Poliklinik
DUITSLAND
Niedersachsen
GÖTTINGEN
Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
FINLAND
Finland
TAMPERE
Molecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology
FRANKRIJK
ILE-DE-FRANCE
PARIS
Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales
FRANKRIJK
NOUVELLE AQUITAINE
BORDEAUX
Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
NICE
Identifying candidate drugs in mitochondrial cardiomyopathies: From Mouse to Human
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)
HONGARIJE
Közép-Magyarország
BUDAPEST
Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALIË
LOMBARDIA
MILANO
Identification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
ITALIË
LOMBARDIA
MILANO
GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - IT
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
ITALIË
VENETO
PADOVA
Enhancing Opa1-dependent cristae structure to combat mitochondrial diseases
Venetian Institute of Molecular Medicine
Fondazione per la ricerca Biomedica avanzata ONLUS
OOSTENRIJK
SALZBURG
SALZBURG
GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - AT
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Universitätsklinik für Kinder- und Jugendheilkunde
SPANJE
Cataluńa
BARCELONA
Development of a platform to demonstrate the pathogenicity of variants of uncertain significance and new disease-causing genes in patients with disorders of mitochondrial energy metabolism
Institut d'Investigacions Biomčdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias
DUITSLAND
Nordrhein-Westfalen
AACHEN
Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Aachen
Klinik für Neurologie
DUITSLAND
Schleswig-Holstein
KIEL
Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Genotypic and phenotypic analysis of early onset epileptic encephalopathies
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
ITALIË
CAMPANIA
NAPOLI
Finding new targets to counteract brain progenitor cells dysregulation in AGC1 deficiency hypomyelination a multi-disciplinary approach
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
ITALIË
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
USA
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
ZWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
ZWITSERLAND
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
SPANJE
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
USA
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentrische onderzoeksprojecten
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- AZM - Academisch Ziekenhuis Maastricht
- Laboratorium Clinical Genomics
- Oxford University Begbroke Science Park
- Zyoxel Limited
DUITSLAND
Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials
NEDERLAND
Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
VERENIGD KONINKRIJK
Oxfordshire
BEGBROKE