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Funded by an IRDiRC member =

Research projects

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

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

Funded by an IRDiRC memberFaSMALS : Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases - FR
CHU de Montpellier - Hôpital Saint-Eloi
Institut des Neurosciences de Montpellier - INSERM U1051

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

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

FRIULI VENEZIA GIULIA
UDINE

Finalization of a new methodology for characterization of healthy carriers of muscular spinal atrophy
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Laboratorio di Neurogenetica - Istituto di Patologia Clinica

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

Funded by an IRDiRC memberNeuroprotection in Spinal Muscular Atrophy using neural stem cells as a therapeutic approach
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

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

SPAIN

Cataluña
LLEIDA

Mechanisms of neurodegeneration in animal models of spinal muscular atrophy and neuroprotective assays with lithium
Universitat de Lleida. Campus de Ciències de la Salut
Unidad de Neurología Celular

SPAIN

Madrid
ADDRESS: NOT PROVIDED - ES

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

UNITED KINGDOM

Lothian
EDINBURGH

Identification of muscle-specific molecular therapeutic targets for Spinal Muscular Atrophy through proteomic techniques
Old Medical School
Centre for Integrative Physiology & Euan MacDonald Centre for Motor Neurone Disease Resarch

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Funded by an IRDiRC memberSMN Replacement Therapy for Spinal Muscular Atrophy: Clinical Development
Sheffield Institute of Translational Neuroscience, University of Sheffield
Department of Neuroscience

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

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 memberThe role of p38 mapk activation in 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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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"

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

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

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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

ITALY

VENETO
CONEGLIANO

Functional study of the Senataxin gene in Drosophila, responsible of motoneuron disease
IRCCS "E. Medea" - Polo Regionale di Conegliano
Associazione ''La Nostra Famiglia''

ITALY

VENETO
CONEGLIANO

Development of motoneuron disease models in Drosophila
IRCCS "E. Medea" - Polo Regionale di Conegliano
Associazione ''La Nostra Famiglia''

ITALY

VENETO
PADOVA

Modelling the role of Atlastin in physiology and moton neuron pathology
Università degli Studi di Padova
Dipartimento di Farmacologia

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

UNITED KINGDOM

Lothian
EDINBURGH

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

BOURGOGNE-FRANCHE-COMTE
STRASBOURG

Funded by an IRDiRC memberClinical and psychopathological approach of neuromuscular disease on gender identity
Université de Strasbourg
Subjectivité, lien social et modernité (EA3071)

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberChildbirth and parenthood in women with motor disability related to rare diseases
Fondation hospitalière Sainte-Marie
Service d'Aide à la Parentalité des Personnes en Situation de Handicap

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

Greater London
LONDON

Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
Guy's Hospital
Health Psychology Section, Psychology Department, Institute of Psychiatry

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Funded by an IRDiRC memberNewcastle University Single Cell Functional Genomics Unit (NUSCU)
Newcastle University
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
PEALS Research Centre, Newcastle University, 4th Floor
Policy, Ethics and Life Sciences (PEALS) Research Centre

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
ADDRESS : NOT PROVIDED - JP

UNITED KINGDOM

Lothian
EDINBURGH

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

Multicentric Research projects