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Funded by an IRDiRC member = Member of a ERN =

Research projects

BELGIUM

OOST-VLAANDEREN
GENT

Funded by an IRDiRC memberCharacterization of HINT1 knockout fly model for peripheral neuropathy
VIB headquarters
VIB (vlaams instituut voor biotechnologie) headquarters

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FINLAND

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

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FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberHereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program

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FRANCE

ILE-DE-FRANCE
GIF-SUR-YVETTE

Funded by an IRDiRC memberCore Molecular Mechanisms and Lipid Determinants of Mitofusin-mediated Mitochondrial Fusion
Institut de Biologie Intégrative de la Cellule (I2BC)
Lipid trafficking and membrane contact sites

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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"

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FRANCE

NOUVELLE AQUITAINE
LIMOGES

Funded by an IRDiRC memberInnovative strategy aimed at treating Charcot-Marie-Tooth patients: in vitro screening of read-through molecules using iPSc and CRISPR-Cas9 technologies
Université de Limoges
Équipe Maintenance Myélinique et Neuropathies Périphériques (MMNP)

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HUNGARY

Közép-Magyarország
BUDAPEST

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

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ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Funded by an IRDiRC memberMisglycosylation in Charcot-Marie-Tooth neuropathies associated to MPZ mutations
Institution: Information not provided - IT

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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

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ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberRole of the ER stress transcription factor XBP1 in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina

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SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberGenotypical and phenotypical characterization in a series of patients with late-onset hereditary neuropathies
Hospital Universitario y Politécnico La Fe
Unidad de Patología Neuromuscular

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SWEDEN

Region Stockholm
ADDRESS: NOT PROVIDED - SE

Funded by an IRDiRC memberThe role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease
Institution: Information not provided - SE

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UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA resource for mouse models of peripheral neuropathy
Institution: Information not provided - US

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SPAIN

Cataluña
BARCELONA

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas

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SPAIN

País Vasco
SAN SEBASTIÁN

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias

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FRANCE

NOUVELLE AQUITAINE
LIMOGES

Funded by an IRDiRC memberDevelopment of a nanoparticle curcumin-based treatment for patients with peripheral neuropathies
Université de Limoges
Équipe Maintenance Myélinique et Neuropathies Périphériques (MMNP)

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SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

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SPAIN

Madrid
MADRID

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

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CANADA

Colombie-Britannique
VICTORIA

Funded by an IRDiRC memberSilent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

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CANADA

Ontario
TORONTO

Funded by an IRDiRC memberBeyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

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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

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SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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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

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Multicentric Research projects