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Progetti di ricerca terminati = Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of cognitive deficits in dystroglycanopathies
Institution: Information not provided - US

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Finanziato da un ente associato a IRDiRCNeuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT

FRANCIA

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Finanziato da un ente associato a IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum

GERMANIA

Niedersachsen
GÖTTINGEN

Finanziato da un ente associato a IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

GERMANIA

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

CANADA

Alberta
CALGARY

Finanziato da un ente associato a IRDiRCIdentifying Cellular and Molecular Modifiers of Muscular Dystrophy
University of Calgary
Department of Biochemistry and Molecular Biology

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

Finanziato da un ente associato a IRDiRCDifferential role of myogenic regulatory factors in establishing muscle-specific gene expression
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
OTTAWA

Finanziato da un ente associato a IRDiRCSatellite Stem Cells from Skeletal Muscle for the Treatment of Neuromuscular Disease
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

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

CANADA

Ontario
OTTAWA, ONTARIO

Finanziato da un ente associato a IRDiRCSIX family transcription factors in adult muscle regeneration.
University of Ottawa
Faculty of Medicine -

FRANCIA

ILE-DE-FRANCE
PARIS

FRANCIA

OCCITANIE
TOULOUSE

Finanziato da un ente associato a IRDiRCIntermuscular adipose tissue as a trigger of muscle wasting?
Institut des Maladies Métaboliques et Cardiovasculaires
Laboratoire de recherche sur les obésités

GIAPPONE

JAPAN
OSAKA

ISRAELE

ISRAEL
REHOVOT

Finanziato da un ente associato a IRDiRCMechanical signals transduced downstream of the LINC complex-mediated muscular dystrophies
Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science
Department of Molecular Genetics

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

LAZIO
ROMA

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

ITALIA

LAZIO
ROMA

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

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCCaratterizzazione del pathway di regolazione cellulare e trascrizione muscolo specifica: implicazioni terapeutiche per la rigenerazione muscolare
Parco Scientifico Biomedico di Roma San Raffaele
Laboratorio di Endocrinologia e Metabolismo Molecolare

ITALIA

LOMBARDIA
MILANO

ITALIA

PIEMONTE
TORINO

Finanziato da un ente associato a IRDiRCGLUD1 as a potential target in Muscular Dystrophy
Università degli Studi di Torino
Dipartimento di Biotecnologie Molecolari e Scienze Della Vita

SPAGNA

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAGNA

Madrid
MADRID

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
SOLNA

Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)

SVIZZERA

Suisse Alémanique
SCHWERZENBACH

Development of novel stem cell-based models to study myogenesis
Bewegung und Gesundheit Departement Gesundheitswissenschaften und Technologie
Department of Health Sciences and Technology - Laboratory of Regenerative and Movement Biology

SVIZZERA

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

CANADA

Ontario
TORONTO

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

ESTONIA

Tartu
TARTU

Finanziato da un ente associato a IRDiRCIDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu
Department of Clinical Genetics

FINLANDIA

Finland
HELSINKI

FRANCIA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Finanziato da un ente associato a IRDiRCIDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCDevelopment of a novel functional connectivity imager for early diagnosis of brain development disorders in newborns
Ecole Supérieure de Physique et de Chimie Industrielles (ESPCI Paris)
Ecole Supérieure de Physique et de Chimie Industrielles de la ville de Paris (ESPCI Paris)

GERMANIA

Nordrhein-Westfalen
BONN

ITALIA

TOSCANA
SESTO FIORENTINO (FIRENZE)

Finanziato da un ente associato a IRDiRCIDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze
Dipartimento di Biologia

NORVEGIA

Østlandet
OSLO

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

NORVEGIA

Østlandet
SANDVIKA

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

PAESI BASSI

Noord-Holland
AMSTERDAM

Finanziato da un ente associato a IRDiRCIDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc
Afdeling Fysiologie

PORTOGALLO

SUL
LISBOA

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

SPAGNA

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

Finanziato da un ente associato a IRDiRCIDOLS-G: Improved diagnostic output in large sarcomeric genes - ES
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica

SPAGNA

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCIdentification 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

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

UNGHERIA

Közép-Magyarország
BUDAPEST

Finanziato da un ente associato a IRDiRCIDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University
Department of Biophysics and Radiation Biology

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

SPAGNA

Cataluña
SABADELL

BELGIO

ANTWERPEN
ANTWERPEN

Finanziato da un ente associato a IRDiRCA preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken
Peripheral Neuropathy Research Group

CANADA

Ontario
OTTAWA, ONTARIO

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
GRENOBLE

Finanziato da un ente associato a IRDiRCEarly identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant
Laboratoire EFCR/Pneumologie

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

Finanziato da un ente associato a IRDiRCInterplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

Finanziato da un ente associato a IRDiRCAmino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

FRANCIA

ILE-DE-FRANCE
CRÉTEIL

FRANCIA

ILE-DE-FRANCE
CRÉTEIL

Finanziato da un ente associato a IRDiRCAn integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire

FRANCIA

ILE-DE-FRANCE
GARCHES

Finanziato da un ente associato a IRDiRCPatient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

FRANCIA

ILE-DE-FRANCE
PARIS

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCsPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

FRANCIA

PAYS DE LA LOIRE
NANTES

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCModelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCA quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université
Centre de Résonance Magnétique Biologique et Médicale

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCCellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"

STATI UNITI

California
PALO ALTO

Finanziato da un ente associato a IRDiRCsPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics

Progetti di ricerca multicentrici