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Funded by an IRDiRC member =

Research projects

FRANCE

ILE-DE-FRANCE
PARIS

Search for Charcot-Marie-Tooth disease type 2 autosomal dominant causative genes (axonal and spinal forms)
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Excitabilité, synapse & pathologies associées

SPAIN

Comunidad Valenciana
VALENCIA

Characterisation of MORC2, a new gene involved in peripheral neuropathies
Centro de Investigación Príncipe Felipe (CIPF)
Laboratorio de Genética y Genómica de Enfermedades Neuromusculares

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberRole of dynamin 2 in muscle under normal and pathological conditions
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

ITALY

PUGLIA
LECCE

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

UNITED STATES

Texas
DALLAS

Funded by an IRDiRC memberA drosophila model for charcot-marie-tooth 2b disease
Ut Southwestern Medical Center
Physiology

AUSTRIA

TIROL
INNSBRUCK

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

AUSTRIA

WIEN
WIEN

Genetic background of late onset inherited peripheral neuropathies
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Orthopädie

BELGIUM

ANTWERPEN
ANTWERPEN

FRANCE

ILE-DE-FRANCE
PARIS

Genetical basis of Charcot-Marie-Tooth disease and hereditary neuropathies
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Excitabilité, synapse & pathologies associées

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
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

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

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

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
Universitŕ 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 memberEnhancing diagnosis, prognosis and therapy of rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Laboratorio de Genética y Genómica de Enfermedades Neuromusculares

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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Universitŕ degli Studi di Napoli
Laboratorio di Genetica Medica

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

Multicentric Research projects