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Funded by an IRDiRC member =

Research projects

CANADA

Ontario
OTTAWA

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberThe molecular pathogenesis of spinal muscular atrophy
Ottawa Hospital Research Institute
Regenerative Medicine

CANADA

Ontario
OTTAWA, ONTARIO

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
VANDOEUVRE LES NANCY CEDEX

FRANCE

ILE-DE-FRANCE
EVRY

Funded by an IRDiRC memberSEDUCE : Stem cells for drug screening targeting splices - FR
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

OCCITANIE
MONTPELLIER

Role of AnxA2 mRNA axonal trafficking in Spinal Muscular Atrophy (SMA)
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)
Assemblage et Trafic de Ribonucléoprotéines

GERMANY

Baden-Württemberg
FREIBURG

SMArtCARE : Clinical evaluation and monitoring of patients with spinal muscular atrophy
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen

GERMANY

Nordrhein-Westfalen
KÖLN

Spinal muscular atrophy: Molecular and functional analysis of a new SMA modifier
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberIdentification of new druggable targets and potential therapeutic compounds for Spinal Muscular Atrophy, using a C.elegans model of neurodegeneration
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Genetica Molecolare dei Nematodi

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberRegulation of SMN2 splicing in cell and mouse models of spinal muscular atrophy
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Laboratorio di Trasduzione del Segnale

ITALY

LAZIO
ROMA

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDevelopment of an italian clinical network for spinal muscular atrophy
Policlinico Universitario "A. Gemelli"
U.O.C. Neuropsichiatria Infantile

ITALY

LOMBARDIA
MILANO

Genetic correction of human induced pluripotent stem cells from patients with proximal spinal muscular atrophy
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberPeptide-conjugated morpholino for treatment of spinal muscular atrophy
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular mediators of the spinal muscular atrophy NMJ phenotype
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAn orally bioavailable drug candidate for spinal muscular atrophy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting a smn lncrna for the treatment of sma
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberLong-term effect of troponin activators for spinal muscular atrophy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSurvival motor neuron (smn) function in motoneuron development
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSmn post-translational modification in spinal muscular atrophy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProtein-mediated membrane remodeling
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
EVRY

GERMANY

Baden-Württemberg
FREIBURG

Natural History, Outcome measures in SMA type II and III
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberObservational longitudinal study of growth patterns, body composition, energy expenditure and dietary intake in Italian infants and children with spinal muscular atrophy type I and II
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Dipartimento di Scienze per gli Alimenti, la Nutrizione e l'Ambiente

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

ITALY

LOMBARDIA
PAVIA

Novel therapeutic strategies for Spinal Muscular Atrophy: testing the efficacy of cell-permeable peptides in preclinical models
Fondazione Salvatore Maugeri
Laboratorio di Ricerca sulle malattie Neurodegenerative

NETHERLANDS

Zuid-Holland
LEIDEN

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberCreation of a database of genetic variants in the gypsy population for the diagnosis and prevention of neuromuscular diseases
IBIS - Instituto de Biomedicina de Sevilla
Grupo de Fisiología molecular de la sinapsis

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHUMAn Neuromuscular Integrative System for drug discovery
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

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