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Financiado por un miembro del IRDiRC = 
Miembro de una ERN = 
Proyectos de investigación
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Folding; misfolding; and function of pmp22
Institution: Information not provided - US
FRANCIA
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"
FRANCIA
NOUVELLE AQUITAINE
LIMOGES
Unravelling 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
FRANCIA
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)
ITALIA
LIGURIA
GENOVA
An 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
ITALIA
LOMBARDIA
MILANO
Unravelling mechanisms of axonal loss in late-onset genetic neuropathies
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche
PAISES BAJOS (LOS)
Utrecht
UTRECHT
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
Piet van Dommelenhuis
CBO - Kwaliteitsinstituut voor de gezondheidszorg
PAISES BAJOS (LOS)
Zuid-Holland
LEIDEN
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
LUMC - Leids Universitair Medisch Centrum
Afdeling Public Health en Eerstelijnsgeneeskunde
ESPAÑA
Comunidad Valenciana
VALENCIA
Caracterización genotípica y fenotípica en una serie de pacientes con neuropatías hereditarias de inicio tardío
Hospital Universitario y Politécnico La Fe
Unidad de Patología Neuromuscular
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A resource for mouse models of peripheral neuropathy
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
Genetic causes of axon degeneration diseases; axonal Charcot-Marie-Tooth neuropathy (CMT2) and hereditary spastic paraplegia
University of Helsinki
Stem Cells and Metabolism Research Program
FINLANDIA
Finland
HELSINKI
Hereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program
FRANCIA
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"
FRANCIA
OCCITANIE
MONTPELLIER
Neurofilaments in Health and Charcot-Marie-Tooth diseases
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
FRANCIA
PAYS DE LA LOIRE
NANTES
Pre-clinical and clinical development of IFB-088, a new chemical entity to treat Charcot-Marie-Tooth disease
InFlectis BioScience
HUNGRIA
Közép-Magyarország
BUDAPEST
Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALIA
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Misglycosylation in Charcot-Marie-Tooth neuropathies associated to MPZ mutations
Institution: Information not provided - IT
ITALIA
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Upper Limbs evaluation in hereditary NeuropAthies: the ULNA project
Institution: Information not provided - IT
ITALIA
LOMBARDIA
MILANO
Targeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina
SUECIA
Region Stockholm
ADDRESS: NOT PROVIDED - SE
The role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease
Institution: Information not provided - SE
ESPAÑA
Madrid
MADRID
RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : 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
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPON
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
Proyectos de investigación multicéntricos
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Neurogenetik
- ISCIII - Instituto de Salud Carlos III
- Centro de Investigación Biomédica en Red de Enfermedades Raras
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
ALEMANIA
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
ALEMANIA
Niedersachsen
GÖTTINGEN
CMT-NRG: Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease)
ESPAÑA
Madrid
MADRID
TREAT-CMT: Investigación Traslacional, Medicina Experimental y Terapéutica de la Enfermedad de Charcot-Marie-Tooth (coordinación)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
ESPAÑA
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA