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Funded by an IRDiRC member =

Research projects

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

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

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"

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberCMT-NET : Biomarkers, validation of selected outcome measures (CMTNSmod)
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberCMT-NET: Network for Research on Charcot-Marie-Tooth disease (coordination)
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

GERMANY

Nordrhein-Westfalen
AACHEN

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

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Funded by an IRDiRC memberUpper Limbs evaluation in hereditary NeuropAthies: the ULNA project
Institution: Information 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

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

CYPRUS

Cyprus
ADDRESS: NOT PROVIDED - CY

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

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

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
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

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

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)

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberCMT-NET : In vitro: Forward and reverse signaling using barcode sensors in a co-culture model system of CMT1A
Klinik für Psychiatrie und Psychotherapie
AG Molekulare Neurobiologie

GERMANY

Bayern
WÜRZBURG

Funded by an IRDiRC memberCMT-NET : Inflammation as risk factor and therapeutic option
Neurologische Klinik und Poliklinik des Universitätsklinikums Würzburg
Neurologische Klinik und Poliklinik

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberCMT-NET : Lipidtherapy in a transgenic rat model of CMT1A
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

ITALY

LIGURIA
GENOVA

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

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

Madrid
MADRID

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

CANADA

Ontario
TORONTO

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : 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

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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects