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Progetti di ricerca

GERMANIA

Nordrhein-Westfalen
KÖLN

Finanziato da un ente associato a IRDiRCTreatHSP-Net: Pathogenic mechanisms and therapeutic approaches for HSP diseases caused by mutations in SPG7
CECAD Research Center
Institute for Genetics, Faculty of Math. Nat. Sciences

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCStabilization of tRNAs as a therapeutic strategy for diseases due to mutations in mt-tRNAs
Sapienza Universitŕ di Roma - Facoltŕ di Medicina e Chirurgia
Dipartimento di Scienze Radiologiche, Oncologiche ed Anatomo Patologiche

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

TIROL
INNSBRUCK

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

CANADA

Québec
MONTRÉAL

Finanziato da un ente associato a IRDiRCEmerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes
CHUM Research Centre
Centre d'excellence en neuroscience de l'Université de Montréal

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
HELSINKI

Hereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program

GERMANIA

Baden-Württemberg
TÜBINGEN

Finanziato da un ente associato a IRDiRCTreatHSP-Net: Network for translational research on hereditary spastic paraplegia -coordination
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANIA

Baden-Württemberg
TÜBINGEN

Finanziato da un ente associato a IRDiRCTreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANIA

Bayern
ERLANGEN

Finanziato da un ente associato a IRDiRCTreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
Universitätsklinikum Erlangen - Kopfkliniken
Abteilung für Molekulare Neurologie

GERMANIA

Nordrhein-Westfalen
ESSEN

GERMANIA

Thüringen
JENA

Finanziato da un ente associato a IRDiRCTreatHSP-Net: Metabolomic investigations of selected mouse models for hereditary spastic paraplegia (HSP)
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

PORTOGALLO

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Modeling spastic paraplegia gene molecular function and pathology in Drosophila
Department of Genetics - University of Cambridge
Department of Genetics

SPAGNA

Cataluńa
L'HOSPITALET DE LLOBREGAT

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCDevelopment of a non-invasive diagnostic platform for OXPHOS diseases based on the detection of new protein biomarkers involved in mitochondrial dysfunction
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCClinical-genomic correlation, and cellular study of pathomechanisms and pharmacological screening in patients with OXPHOS mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCMitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

FINLANDIA

Finland
HELSINKI

Tissue-specific mitochondrial signaling and adaptations to mistranslation
University of Helsinki
Stem Cells and Metabolism Research Program

FINLANDIA

Finland
TAMPERE

Finanziato da un ente associato a IRDiRCMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

Finanziato da un ente associato a IRDiRCUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

GERMANIA

Bayern
MÜNCHEN

Finanziato da un ente associato a IRDiRCmitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Bayern
MÜNCHEN

Finanziato da un ente associato a IRDiRCmitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Niedersachsen
GÖTTINGEN

Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCIdentificazione e caratterizzazione di geni nucleari responsabili di malattie mitocondriali umane
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCPersonalized mitochondrial disease medicine: from genetic diagnosis to drug discovery through the use of suppressor genes as pharmacological targets
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCStudy of the therapeutic potential of physical exercise in mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNGHERIA

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCMalattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

SPAGNA

Cataluńa
BARCELONA

Identification of new disease-causing genes in patients with mitochondrial energy metabolism disorders and development of a platform
Institut d'Investigacions Biomčdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias

SPAGNA

Madrid
MADRID

CANADA

Ontario
OTTAWA

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
TORONTO

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCProgramma Italiano per lo screening neonatale esteso
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SVIZZERA

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

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