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Research projects

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Madrid
MADRID

BELGIUM

ANTWERPEN
ANTWERPEN

BELGIUM

OOST-VLAANDEREN
GENT

Funded by an IRDiRC memberCharacterization of HINT1 knockout fly model for peripheral neuropathy
VIB headquarters
VIB (vlaams instituut voor biotechnologie) headquarters

FINLAND

Finland
HELSINKI

FINLAND

Finland
HELSINKI

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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
PARIS

Genetical basis of Charcot-Marie-Tooth disease and hereditary neuropathies
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCE

NOUVELLE AQUITAINE
LIMOGES

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberAnalysis of the first phenotypical mouse model for Giant Axonal Neuropathy
CHU de Montpellier - Hôpital Saint-Eloi
Institut des Neurosciences de Montpellier - INSERM U1051

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberNeurofilaments in Health and Charcot-Marie-Tooth diseases
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

HUNGARY

Közép-Magyarország
BUDAPEST

Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberTargeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberRole of the ER stress transcription factor XBP1 in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberGenotypical and phenotypical characterization in a series of patients with late-onset hereditary neuropathies
Hospital Universitario y Politécnico La Fe
Unidad de Patología Neuromuscular

SWEDEN

Region Stockholm
ADDRESS: NOT PROVIDED - SE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA resource for mouse models of peripheral neuropathy
Institution: Information not provided - US

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Funded by an IRDiRC memberENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (coordinator)
European Commission
DG Research - Directorate General for Research

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Funded by an IRDiRC memberENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
European Commission
DG Research - Directorate General for Research

FINLAND

Finland
HELSINKI

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberIn vivo and in vitro direct lineage reprogramming of neuronal and somatic cells to corticospinal motor neurons
Université de Nice Sophia-Antipolis - Faculté des sciences
iBV - Institut de Biologie Valrose

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Nordrhein-Westfalen
AACHEN

GERMANY

Nordrhein-Westfalen
AACHEN

PORTUGAL

NORTE
PORTO

Dissecting nerve regeneration and the neuritogenic activity of TTR
Instituto de Biologia Molecular e Celular
Nerve Regeneration Group

PORTUGAL

NORTE
PORTO

Phenotypic variability and modifier genes in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

Therapies in familial amyloidotic polyneuropathy
Instituto de Biologia Molecular e Celular
Unidade de Neurobiologia Molecular

PORTUGAL

NORTE
PORTO

Molecular basis of nervous system dysfunction on amyloid neuropathies
Instituto de Biologia Molecular e Celular
Unidade de Neurobiologia Molecular

PORTUGAL

SUL
LISBOA

TTR amyloid fibril formation in vivo - Looking beyond genetic factors
Faculdade de Ciências da Universidade de Lisboa
Laboratório de Enzimologia

SPAIN

Cataluña
BARCELONA

Neurofilament detection in patients with rare neuroimmune diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberDiagnostic and tissue-damage biomarkers in autoimmune neuropathies
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SWEDEN

Region Västerbotten
UMEÅ

Mechanistic and structural elucidation of amyloid and its cytotoxic propensity
Umeå University
Department of medical biochemistry and biophysics

SWITZERLAND

Suisse Alémanique
ZURICH

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

WIEN
WIEN

Serum neurofilament as a potential therapy monitoring marker in patients with immune-mediated neuropathies
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Neurologie

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Understanding the molecular mechanisms underlying familial dysautonomia
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille

GERMANY

Thüringen
JENA

Functional analysis of the FAM134 gene family and pathophysiology of the FAM134B related sensory and autonomic neuropathy type 2
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberMolecular Mechanisms of Autophagy and Membranes Dynamics
TIGEM - Telethon Institute of Genetics and Medicine
Cell Biology and Disease Mechanisms

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Funded by an IRDiRC memberDevelopment of Exon Specific U1 snRNA-based therapy for Familial Dysautonomia
International Centre For Genetic Engineering And Biotechnology - ICGEB
Human Molecular Genetics Laboratory

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Funded by an IRDiRC memberA novel exon-specific U1 snRNA strategy to correct splicing in Familial Dysautonomia
International Centre For Genetic Engineering And Biotechnology - ICGEB
Human Molecular Genetics Laboratory

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberMuscular RNA and transcriptome analysis as a tool for the identification of biomarkers in spinal muscular atrophy
Policlinico Umberto I
Dipartimento di Biotecnologie Cellulari ed Ematologia

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

Funded by an IRDiRC memberMICA: An iPSC based screen for candidate pain modulating compounds
Institution: Information not provided - UK

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CYPRUS

Cyprus
ADDRESS: NOT PROVIDED - CY

Funded by an IRDiRC memberA gene therapy approach for treating CMT4C
Institution: Information not provided - CY

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
PARIS

Search for Charcot-Marie-Tooth disease type 2 autosomal dominant causative genes (axonal and spinal forms)
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Funded by an IRDiRC memberUnravelling mechanisms of axonal loss in late-onset genetic neuropathies - partner 1
CHU de Limoges - Hôpital Dupuytren
Service de neurologie - Centre de Référence Neuropathies Périphérique Rares

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANY

Niedersachsen
OLDENBURG

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular mechanisms of disturbed thermoregulation exemplified by Crisponi syndrome
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberUnravelling mechanisms of axonal loss in late-onset genetic neuropathies
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberCharacterising new genes and protein biomarkers to progress in the diagnosis, prognosis and therapy of axonal hereditary neuropathy (CMT2)
Centro de Investigación Príncipe Felipe (CIPF)
Servicio de Genómica y Genética Traslacional

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberStudy of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models
Génétique Moléculaire Génomique Microbiologie - GMGM
Trafic membranaire et signalisation lipidique

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberInnate immune deficiencies in severe brainstem infections
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

FRANCE

ILE-DE-FRANCE
PARIS

Search for phenotype modifier genes in Charcot-Marie-Tooth 1A
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberDynaMitoQ10: An unexpected link between mitochondrial dynamics and the mevalonate pathway: a new pathophysiological mechanism in mitochondrial disease
Institut de Biochimie et Génétique Cellulaires - UMR 5095
IBGC - Institut de Biochimie et Génétique Cellulaires - UMR 5095

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberIdentification of phospholipid effectors and potential biomarkers in Charcot-Marie-Tooth type 4B neuropathie
CHU de Toulouse - Hôpital Purpan
Département oncogenèse, signalisation et innovation thérapeutique

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

CMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules
Université de médecine Aix-Marseille Université
Thérapie des Maladies Génétiques (EA 1263)

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberAn in vitro model of myelin protein zero mutations in schwann cells: from pathogenesis to therapy
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberKnockdown and Replacement of MFN2: a Gene Therapy to treat Dominantly Inherited Peripheral Neuropathy CMT2A
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

ITALY

PUGLIA
LECCE

Funded by an IRDiRC memberCharcot-Marie-Tooth type 2B: Role of the Rab7 GTPase and of Rab7 interacting proteins
Università degli Studi del Salento
Dipartimento di Scienze e Tecnologie Biologiche ed Ambientali

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCharcot-marie-tooth (cmt) disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFolding; misfolding; and function of pmp22
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects