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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

REGNO UNITO; GRAN BRETAGNA

Lothian
EDINBURGH

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

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
ESPLUGUES DE LLOBREGAT

Finanziato da un ente associato a IRDiRCMitochondrial encephalomyopathies and secondary coenzyme Q10 deficiencies: Study in pediatric patients, in cellular and murine models
Hospital Universitari Sant Joan de Déu
Grupo de investigación de enfermedades neurológicas minoritarias de base genčtica en el ámbito pediátrico

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)

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

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

NOUVELLE AQUITAINE
BORDEAUX

GERMANIA

Niedersachsen
GÖTTINGEN

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

ITALIA

EMILIA ROMAGNA
FERRARA

Coinvolgimento di proteine mitocondriali in autofagia: una possibile implicazione in malattie mitocondriali
Universitŕ degli Studi di Ferrara
Dipartimento di Medicina Sperimentale e Diagnostica

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

Aragón
ZARAGOZA

Finanziato da un ente associato a IRDiRCNew mutations in the mitocondrial DNA associated to diseases: characterization in transmitochondrial cybrids differentiated to neurons and myocites
Universidad de Zaragoza. Facultad de Veterinaria
Departamento de Bioquímica y Biología Molecular y Celular (F. Veterinaria)

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

REGNO UNITO; GRAN BRETAGNA

Oxfordshire
BEGBROKE

SVEZIA

Stockholms läns landsting
STOCKHOLM

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

Progetti di ricerca multicentrici