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Progetti di ricerca

CANADA

Québec
MONTRÉAL

Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCLEUKOTREAT: ethical impacts of therapeutic challenges in leukodystrophies (WP5) - FR
Centre Universitaire des Saints-Pčres - Faculté de Médecine
Laboratoire d'éthique médicale et médecine légale

GERMANIA

Niedersachsen
GÖTTINGEN

Clinical and molecular characterization of genetically determined unclear white matter disorders
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCLEUKOTREAT:terapie geniche e cellulari innovativi in leucodistrofie (WP4) - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unitŕ di Ricerca Clinica Pediatrica

FRANCIA

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

REGNO UNITO; GRAN BRETAGNA

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

SPAGNA

Comunidad Valenciana
VALENCIA

FRANCIA

PAYS DE LA LOIRE
ANGERS

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
Azienda Ospedaliera Universitaria - Seconda Universitŕ degli Studi di Napoli
Laboratorio di Genetica Medica

SPAGNA

Cataluńa
BARCELONA

Finanziato da un ente associato a IRDiRCGenetic-molecular approach of mitochondrial diseases of the OXPHOS system: identification of phenotype conditioning factors
Vall d'Hebron Institut de Recerca VHIR
Unidad de Patología Neuromuscular y Mitocondrial

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCWhole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

SPAGNA

Madrid
MADRID

Using induced pluripotent stem cells (iPS) for the study and treatment of mitochondrial diseases
Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCMitochondrial diseases: new study strategies, progress in diagnosis and approach to therapy
Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCSearching and characterization of biomarkers of mitochondrial diseases associated with enzymatic deficits of the OXPHOS system
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

AUSTRIA

SALZBURG
SALZBURG

Finanziato da un ente associato a IRDiRCGENOMIT - Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - AT
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Universitätsklinik für Kinder- und Jugendheilkunde

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCMitochondria, metabolism and disease
Biocenter 1, University of Helsinki
Institute of Biotechnology

FINLANDIA

Finland
HELSINKI

Molecular basis of mitochondrial disorders
University of Helsinki
Molecular Neurology

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCMechanisms and consequences of mitochondrial translation defects
University of Helsinki
Molecular Neurology

FINLANDIA

Finland
TAMPERE

Finanziato da un ente associato a IRDiRCMitochondria, metabolism and disease
University of Tampere
Institute of Biomedical Technology

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

FRANCIA

ILE-DE-FRANCE
PARIS

Research on the differential effect of Pioglitazone in mitochondrial diseases
CHU Paris - Hôpital Robert Debré
INSERM U1141- Physiopathologie et thérapie des maladies mitochondriale

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique des maladies mitochondriales"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCIdentification of nuclear genes of mitochondrial diseases with neurological involvement
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
NICE

Finanziato da un ente associato a IRDiRCIdentification of new genes and possible de novo mutations in early-onset mitochondrial disorders
Faculté de médecine de Nice Sophia-Antipolis
Institut de Recherche sur le Cancer et le Vieillissement

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

ITALIA

VENETO
PADOVA

Finanziato da un ente associato a IRDiRCMitCare-2
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCGenetic and pharmacogenomic diagnosis of mitochondrial diseases by massive sequencing and functional complementation
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCTraining as modulator inducer of myokines and neurotrophins in mitochondrial diseases: a therapeutic strategy
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

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
OTTAWA, ONTARIO

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCIA

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALIA

LIGURIA
GENOVA

Nuove tecnologie e nuove strategie per lo screening neonatale di massa
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SVEZIA

Stockholms läns landsting
STOCKHOLM

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

Progetti di ricerca multicentrici