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Funded by an IRDiRC member =

Research projects

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

ITALY

LOMBARDIA
MILANO

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

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 Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Excitabilité, synapse & pathologies associées

HUNGARY

Közép-Magyarország
BUDAPEST

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

ITALY

CAMPANIA
NAPOLI

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

ITALY

LOMBARDIA
MILANO

Laminins receptors and signals in hereditary neuropathies
IRCCS Ospedale San Raffaele
Laboratorio di NeuroGlia

ITALY

VENETO
PADOVA

ITALY

VENETO
PADOVA

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

UNITED KINGDOM

Lothian
EDINBURGH

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

FRANCE

ILE-DE-FRANCE
PARIS

Search for phenotype modifier genes in Charcot-Marie-Tooth 1A
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Excitabilité, synapse & pathologies associées

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Tools for therapeutic evaluation in Charcot-Marie-Tooth disease type 1A: outcome measures and biomarkers (CMT-TOOLS) - FR
Université de médecine Aix-Marseille Université
Institut des Neurosciences de la Timone

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberCMT-NET : Exome sequencing of extreme phenotypes to identify genetic modifiers in CMT1A
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

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 : Skin biopsies as a tool to identify risk factors from CMT1A patients
Neurologische Klinik und Poliklinik des Universitätsklinikums Würzburg
Neurologische Klinik und Poliklinik

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

An 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 memberRole of prostaglandin D2 synthase in PNS myelination and remyelination
IRCCS Ospedale San Raffaele
Divisione di Genetica e Biologia Cellulare

ITALY

LOMBARDIA
MILANO

Functional analysis of the myotubularin-related-2 gene, mtmr2, responsible for Charcot-Marie-Tooth type 4b disease
IRCCS Ospedale San Raffaele
Istituto di Neurologia Sperimentale - Unità di Ricerca per la Clinica Pediatrica

ITALY

PUGLIA
LECCE

Role of the rab7 protein in hereditary sensory ulcero-mutilating neuropathies
Università degli Studi del Salento
Dipartimento di Scienze e Tecnologie Biologiche ed Ambientali

ITALY

PUGLIA
LECCE

Molecular basis of Charcot-Marie-Tooth type 2B disease
Università degli Studi del Salento
Dipartimento di Scienze e Tecnologie Biologiche ed Ambientali

SPAIN

Comunidad Valenciana
VALENCIA

BioMeder - Degenerative neuromuscular diseases: Charcot-Marie-Tooth neuropathy type 4A and Friedreich ataxia
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Genética y Medicina Molecular

UNITED STATES

Texas
DALLAS

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

Multicentric Research projects