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Ufundowane przez członka IRDiRC =
Projekt badawczy

ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

CAMPANIA
NAPOLI
Programma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

LAZIO
ROMA
SPATAX: Network europeo per le atassie e paraplegie spastiche ereditarie
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare

JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

NORTE
PORTO
SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

NORTE
PORTO
Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

NORTE
PORTO
SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

NORTE
SANTA MARIA DA FEIRA
SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Hospital São Sebastião
Serviço de Neurologia

Greater London
LONDON
Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma

Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium

Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre

Washington
ADDRESS: NOT PROVIDED - US
Patholog-omics - essential tremor in the broader context of neurodegeneration
Institution: Information not provided - US

Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

HAUTS-DE-FRANCE
LILLE
ID2STOP Orphan: Technologie de Sélection Individualisée de Médicaments pour les patients orphelins
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

LIGURIA
GENOVA
Nuove tecnologie e nuove strategie per lo screening neonatale di massa
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

LOMBARDIA
MILANO
NEUROMICS: progetto europeo integrato di ricerca "omica" sulle malattie neuromuscolari e neurodegenerative - IT
Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali

Gelderland
NIJMEGEN

Zuid-Holland
LEIDEN
NEUROMICS: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

Galicia
SANTIAGO DE COMPOSTELA
Uso de la plataforma nCounter de Nanostring para detectar mutaciones que afectan la expresión génica en pacientes con enfermedades raras no diagnosticadas
Complejo Hospitalario Universitario de Santiago
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas

Stockholms läns landsting
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

Suisse Romande
LAUSANNE
Etude rétrospective portant sur les patients adultes avec Erreurs Innées du Métabolisme en Suisse Romande
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

Greater Manchester
ADDRESS: NOT PROVIDED - UK
Improving diagnostic and care pathways in progressive supranuclear palsy and corticobasal degeneration
Institution: Information not provided - UK

Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US

Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology

ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

CAMPANIA
NAPOLI
Programma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
Wieloośrodkowy projekt badawczy
- IRB Barcelona - Instituto de Investigación Biomédica
- Transportadores de aminoácidos y enfermedad
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- IURC - Institut Universitaire de Recherche Clinique
- Laboratoire de génétique moléculaire
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Universitätsklinikum Aachen
- GeNeMove - Netzwerksekretariat
- Fondazione EBRI
- Istituto di Neurobiologia e Medicina Molecolare
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de biochimie
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- St James's University Hospital
- Department of Biochemical Genetics
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Universitätsklinikum Bonn (AöR)
- Kompetenznetz Degenerative Demenzen - Geschäftsstelle
- Camden Mews Day Hospital
- North Thames DeNDRoN, Camden & Islington Mental Health Trust
- Wythenshawe Hospital
- Dementias & Neurodegenerative Diseases Research Network
- Moorgreen Hospital
- Memory & Assessment & Research Centre
- Julian Hospital
- Churchill Hospital
- Fulbrook Centre
- St Martin's Hospital
- Research Institute for the Care of the Elderly (RICE)
- Newcastle General Hospital
- Wolfson Research Centre
- Alzheimer Europe Office
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie

Cataluña
BARCELONA
EUGINDAT: Iniciativa genómica europea en trastornos de los transportadores de aminoácidos en la membrana plasmática

ILE-DE-FRANCE
PARIS
SPATAX: réseau européen des maladies héréditaires dégénératives spinocérébelleuses

OCCITANIE
MONTPELLIER
Euro-SCAR: Nosology and molecular diagnosis of the degenerative recessive ataxias

Baden-Württemberg
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias

Nordrhein-Westfalen
AACHEN
GeNeMove: Deutsches Netzwerk für vererbte Bewegungsstörungen

LAZIO
ROMA
ITASPA: Network Italiano per le Paraplegie Spastiche Ereditarie

Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network

OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme

Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT

South Yorkshire
SHEFFIELD
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism

South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network

West Yorkshire
LEEDS
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism

Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique

PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française

Baden-Württemberg
TÜBINGEN
Ataxia Study Group (ASG)

Bayern
MÜNCHEN
BNE: BrainNet Europe II: Europäische Hirngewebebank

LAZIO
ROMA
UnRareNet: network multicentrico di ricerca per le malattie rare non diagnosticate (terminato)

Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas

Nordrhein-Westfalen
BONN
Kompetenznetz Degenerative Demenzen

Greater London
LONDON
DENDRON - north Thames region: Dementias & Neurodegenerative Diseases Research Network

Greater Manchester
MANCHESTER
DENDRON - north west region: Dementias & Neurodegenerative Diseases Research Network

Hampshire
SOUTHAMPTON
DENDRON - south coast region: Dementias & Neurodegenerative Diseases Research Network

Norfolk
NORWICH
DENDRON - east Anglia region: Dementias & Neurodegenerative Diseases Research Network

Oxfordshire
OXFORD
DENDRON - Thames valley region: Dementias & Neurodegenerative Diseases Research Network

Somerset
BATH
DENDRON - south west region: Dementias & Neurodegenerative Diseases Research Network

Tyne & Wear
NEWCASTLE UPON TYNE
DENDRON - north east region: Dementias & Neurodegenerative Diseases Research Network

LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: base de données européenne sur les formes rares de démence

Niedersachsen
GÖTTINGEN