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Funded by an IRDiRC member =

Research projects

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberHTS screening to identify molecules correcting connexon activity in CMTX disorder
CHU de Marseille - Hôpital de la Timone
Thérapie des Maladies Génétiques

ITALY

LOMBARDIA
MILANO

Novel outcome measures (6MWT and SAM) for Charcot Marie Tooth type 1A and 1B
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

AUSTRIA

TIROL
INNSBRUCK

Funded by an IRDiRC memberCMT-NET : Pregnancy assessment in Charcot-Marie-Tooth (CMT) neuropathy
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

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

Funded by an IRDiRC memberNeurofilaments in Health and Charcot-Marie-Tooth diseases
Institution: Information not provided - FR

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

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 memberCMT-NRG : Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease) - FR
CHU de Montpellier - Hôpital Saint-Eloi
Institut des Neurosciences de Montpellier - INSERM U1051

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberIdentification of novel genes in Charcot-Marie-Tooth disease in lebanese consanguineous families, through homozygous by descent analysis of whole genome sequence data
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

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

GERMANY

Nordrhein-Westfalen
AACHEN

Funded by an IRDiRC memberCMT-NET : Pathomechanisms of CMT: Relevance for human nerve pathology
Universitätsklinikum Aachen
Institut für Neuropathologie

GERMANY

Nordrhein-Westfalen
BONN

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
MÜNSTER

Funded by an IRDiRC memberCMT-NET : Natural history and risk factors during development study in adult CMT patients
Universitätsklinikum Münster
Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen

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

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 memberCMT national registry: towards definition of standards of care and clinical trials
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberModulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies
IRCCS Ospedale San Raffaele
Divisione di Genetica e Biologia Cellulare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT
Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali

NETHERLANDS

Zuid-Holland
LEIDEN

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberHereditary neuropathies in childhood and adolescence: genetic diagnosis and determinants of quality of life
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en patología neuromuscular y ataxias

SWEDEN

Stockholms läns landsting
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

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberGenCognition: Genetic basis of intellectual disability and other cognitive disorders
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

FRANCE

PAYS DE LA LOIRE
ANGERS

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

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

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

Multicentric Research projects