Búsqueda de un registro/biobanco
Otra(s) opcion(es) de búsqueda
380 Resultado(s)
Financiado por un miembro del IRDiRC = 
Miembro de una ERN = 
Registos y biobancos
ALEMANIA
Niedersachsen
GÖTTINGEN
ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK
ALEMANIA
Nordrhein-Westfalen
MÜNSTER
Brain-Net - brain tissue bank Munster (pediatric neuropathology)
Institut für Neuropathologie der Medizinischen Fakultät Münster
Institut für Neuropathologie
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases
ESPAÑA
Andalucía
SEVILLA
Registro de enfermedades raras de Andalucía
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento
ESPAÑA
Aragón
ZARAGOZA
Registro de enfermedades raras de la Comunidad Autónoma de Aragón
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria
ESPAÑA
Baleares
PALMA DE MALLORCA
Registro Poblacional de Enfermedades Raras de la Comunidad Autónoma de las Illes Balears
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología
ESPAÑA
Baleares
PALMA DE MALLORCA
Registro Poblacional de Enfermedades Raras de la Comunidad Autónoma de las Illes Balears
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo
ESPAÑA
Cantabria
SANTANDER
Registro poblacional de enfermedades raras y anomalias congenitas de Cantabria
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria
ESPAÑA
Comunidad Valenciana
VALENCIA
SIER-CV: Sistema de Información de Enfermedades Raras de la Comunitat Valenciana
FISABIO - Salud Pública
Área de Enfermedades Raras
ESPAÑA
Extremadura
MÉRIDA
Registro de enfermedades raras de Extremadura
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
ESPAÑA
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registro de enfermedades raras de Galicia
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial
ESPAÑA
Madrid
MADRID
SIERMA: Sistema de información de enfermedades raras de Madrid
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud
ESPAÑA
Madrid
MADRID
ReeR: Registro Estatal de Enfermedades Raras
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
ESPAÑA
Murcia
MURCIA
SIERrm: Sistema de Información sobre enfermedades raras de la Región de Murcia
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria
ESPAÑA
Navarra
PAMPLONA
Registro poblacional de enfermedades raras de Navarra
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles
FRANCIA
ILE-DE-FRANCE
PARIS
French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)
SUIZA
Suisse Alémanique
BERN
Swiss Rare Disease Registry
Institute of Social and Preventive Medicine (ISPM)
SUIZA
Suisse Alémanique
ZÜRICH
Swiss Rare Disease Registry
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
ALEMANIA
Baden-Württemberg
TÜBINGEN
ERN [RND] - ERN-RND Registry: The ERN-RND Rare Neurological Disease Registry
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ALEMANIA
Bayern
ERLANGEN
EEBB: European Epilepsy Brain Bank
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut
ALEMANIA
Bayern
ERLANGEN
German epilepsy registry
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut
ALEMANIA
Nordrhein-Westfalen
AACHEN
Brain-net - brain tissue bank Aachen
Universitätsklinikum Aachen
Institut für Neuropathologie
ALEMANIA
Nordrhein-Westfalen
BONN
Brain-Net - brain tissue bank Bonn (epilepsy, brain tumor)
Universitätsklinikum Bonn (AöR)
Hirntumor-Referenzzentrum der DGNN
AUSTRIA
SALZBURG
SALZBURG
ASCIS - The Austrian Spinal Cord Injury Study
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Universitätsklinik für Orthopädie und Traumatologie
BELGICA
ANTWERPEN
ANTWERPEN
Collection of FRA12A carrier DNA samples
University of Antwerp - UA
Medical Genetics Unit
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Belgian Neuromuscular Diseases Registry (BNMDR)
Sciensano
Health Services Research - Rare Diseases
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood
Secretariat Brussels, Postbus 10009
European Network for Research on Alternating Hemiplegia
BELGICA
VLAAMS BRABANT
LEUVEN
ERN [EpiCARE] - EPICARE-GRANT: An Operational EPICARE Registry for all Rare and Complex Epilepsies
KU Leuven
CANADA
Alberta
CALGARY
Canadian Neuromuscular Disease Registry
University of Calgary Health Science Centre
Department of Clinical Neurosciences
CHIPRE
Cyprus
NICOSIA
NMDcy: Cypriot Neuromuscular Diseases - contributes to TREAT-NMD
Institute of Medical Rehabilitation
ESLOVENIA
SLOVENIA
LJUBLJANA
Human tissue biobank of Neuromuscular diseases (EuroBioBank partner)
University Medical Center Ljubljana
Institute of Anatomy
ESPAÑA
Asturias
GIJÓN
ESPAÑA
Cataluña
BARCELONA
NMD-ES: Registro Español de Enfermedades Neuromusculares
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
ESPAÑA
Cataluña
ESPLUGUES DE LLOBREGAT
Biobanco del Hospital Infantil Sant Joan de Déu para la investigación (BHISJDI)
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco del Hospital Infantil Sant Joan de Déu para la investigación
ESPAÑA
Madrid
MADRID
REDAPED: Registro español de ataxias y paraparesias espásticas degenerativas
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Leukofrance database and biobank
Institution: Information not provided - FR
FRANCIA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RaDiCo-GenIDA: International social network for data collection on the natural history of rare monogenic forms of intellectual disabilities
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCIA
ILE-DE-FRANCE
EVRY
Human DNA and cell biobank of Genethon - genetic diseases, mainly neuromuscular diseases - part of the EuroBioBank network
Généthon
Centre de Recherche Généthon
FRANCIA
ILE-DE-FRANCE
GARCHES
French registry of neuromuscular diseases from reference centres
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Consultation Maladies Neuro Musculaires
FRANCIA
ILE-DE-FRANCE
PARIS
ERN [ITHACA] - ILIAD Rare Diseases patient registry: an International Library of Intellectual disability and Anomalies of Development
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
FRANCIA
ILE-DE-FRANCE
PARIS
European LeukoDataBase
CHU Paris - Hôpital Robert Debré
Centre de référence des leucodystrophies
FRANCIA
ILE-DE-FRANCE
PARIS
ERN [EURO-NMD] - EURO-NMD Registry: Patient centered and interoperable registry hub for Rare Neuromuscular Diseases
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
ITALIA
VENETO
PADOVA
Regional registry for neuromuscular disorders
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory
ITALIA
VENETO
PADOVA
Neuromuscular Tissue Bank (NMTB) (EuroBioBank partner)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
Dutch Neuromuscular Database CRAMP: Computer Registry of All Myopathies and Polyneuropathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie
PAISES BAJOS (LOS)
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Klinische Genetica
PAISES BAJOS (LOS)
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht
REINO UNIDO (EL)
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Familial Gastric Cancer - Addenbrookes
REINO UNIDO (EL)
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research
ALEMANIA
Baden-Württemberg
HEIDELBERG
iNTD (International Working Group on Neurotransmitter Related Disorders) Registry
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor
ALEMANIA
Baden-Württemberg
HEIDELBERG
EIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
ALEMANIA
Baden-Württemberg
TÜBINGEN
Niemann-Pick Type C Disease Gene Variation Database
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ALEMANIA
Baden-Württemberg
TÜBINGEN
GeNeMove: CP2 Central DNA-Bank
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ALEMANIA
Baden-Württemberg
ULM
ALS registry swabia
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Klinik für Neurologie
ALEMANIA
Bayern
MÜNCHEN
MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALEMANIA
Bayern
MÜNCHEN
TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALEMANIA
Bayern
MÜNCHEN
Biobank for patient with NBIA - subproject of TIRCON
Institut für Humangenetik der TU München
Institut für Humangenetik
ALEMANIA
Bayern
MÜNCHEN
Neurobiobank Munique
Zentrum für Neuropathologie und Prionforschung (ZNP)
Zentrum für Neuropathologie und Prionforschung der LMU München
ALEMANIA
Bayern
WÜRZBURG
Brain-Net - brain tissue bank Würzburg (Amyotrophic lateral sclerosis)
Institut für Pathologie der Universität Würzburg
Institut für Pathologie
ALEMANIA
Hamburg
HAMBURG
NCL-Registry: International neuronal ceroid lipofuscinoses patient registry
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten
ALEMANIA
Hamburg
HAMBURG
Mucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALEMANIA
Hamburg
HAMBURG
Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALEMANIA
Hessen
MARBURG
GeNeMove: German database for wilson disease
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik und Poliklinik für Neurologie
ALEMANIA
Mecklenburg-Vorpommern
ROSTOCK
ALEMANIA
Nordrhein-Westfalen
AACHEN
EUROFA - EFACT: European Friedreich Ataxia Registry
Universitätsklinikum Aachen
Klinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
AACHEN
EUROFA - EFACT: European Friedreich Ataxia Biobank
Universitätsklinikum Aachen
Klinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
BONN
GEPARD: genebank of Parkinson's disease
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
ESSEN
ALS registry Nordrhein-Westfalen
Alfried Krupp Krankenhaus Rüttenscheid
Klinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
MÜNSTER
Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases
Universitätsklinikum Münster
Herz-MRT-Zentrum
ALEMANIA
Rheinland-Pfalz
LUDWIGSHAFEN
ALS registry Rheinland-Pfalz
Klinikum der Stadt Ludwigshafen gGmbH
Rheinland-Pfälzisches ALS-Register
ALEMANIA
Schleswig-Holstein
KIEL
CONNECT-GENERATE: National registry for autoimmune encephalitis
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Neurologie
AUSTRALIA
New South Wales
NORTH SYDNEY
Australian Motor Neurone Disease Registry (AMNDR)
Research Institute of Australia
Motor Neurone Disease
AUSTRALIA
Queensland
SOUTH BRISBANE
Global Angelman Syndrome Registry
Centre for Children's Health Research
Developmental Paediatrics Group, Mater Research
AUSTRIA
TIROL
INNSBRUCK
EMSA-SG: central patient registry of the European multiple system atrophy network
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie
AUSTRIA
TIROL
INNSBRUCK
EMSA-SG: DNA bank of the European multiple system atrophy network
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie
BELGICA
ANTWERPEN
ANTWERPEN
Inherited Peripheral Neuropathies Mutation Database - IPNMD
University of Antwerp - UA
Inherited Peripheral Neuropathies Mutation Database
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)
Cliniques universitaires Saint-Luc - UCLouvain
Service de gastro-entérologie et hépatologie pédiatrique
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood
Secretariat Brussels, Postbus 10009
European Network for Research on Alternating Hemiplegia
BULGARIA
South Central region
PLOVDIV
National registry of patients with Wilson disease - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs
BULGARIA
South Central region
PLOVDIV
National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs
BULGARIA
South-West region
SOFIA
National registry of patients with phenylketonuria - BG
University hospital of Obstetrics and Gynecology
Laboratory of molecular pathology - National Genetics Laboratory
DINAMARCA
Hovedstaden
COPENHAGEN
Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics
DINAMARCA
Hovedstaden
HERLEV
Danish malignant hyperthermia registry - contributes to the European Malignant Hyperthermia Group (EMHG)
Herlev hospital - University of Copenhagen
Department of anaesthesiology - Danish Malignant Hyperthermia Centre - I 104 (LT)
DINAMARCA
Sjælland
COPENHAGEN
The PKU biobank as a national research source
Statens Serum Institut
Department of clinical biochemistry
ESPAÑA
Castilla - León
SALAMANCA
Banco Nacional de ADN: Colección de muestras de enfermedades raras
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN
ESTADOS UNIDOS
California
SAN FRANCISCO
Sjogren's International Collaborative Clinical Alliance registry
University of California
Department of Orofacial Sciences
ESTADOS UNIDOS
Massachusetts
CAMBRIDGE
HOS : Hunter Outcome Survey
Shire Human Genetics Therapies, Inc.
ESTADOS UNIDOS
Pennsylvania
EXTON
FARA: International Friedreich Ataxia Research Alliance registry
FARA - Friedreichs Ataxia Research Alliance
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
DNA and cells bank for alternating hemiplegia of childhood
Institution: Information not provided - FR
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
EDMUS: European Database for Multiple Sclerosis and other related diseases
CHU de Lyon HCL - GH Est
Service de Neurologie A - EDMUS Coordinating Center
FRANCIA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANCIA
ILE-DE-FRANCE
PARIS
EU-CHS: European central hypoventilation syndrome registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"
FRANCIA
ILE-DE-FRANCE
PARIS
French central hypoventilation syndrome registry - will contribute to the European CHS registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"
FRANCIA
ILE-DE-FRANCE
PARIS
RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service Explorations fonctionnelles Endocriniennes
FRANCIA
ILE-DE-FRANCE
PARIS
French Cohorts in Sneddon syndrome and suspected Sneddon syndrome livedo
Groupe hospitalier AP-HP.6 - Hôpital Tenon
Service de dermatologie, médecine vasculaire et allergologie
FRANCIA
ILE-DE-FRANCE
PARIS
UMD ATP7B (ATPase, Cu++ transporting, beta polypeptide) mutations database
Hôpital Necker-Enfants Malades
Biochimie Métabolomique et Protéomique
FRANCIA
ILE-DE-FRANCE
PARIS
Motor Function Measure database (Neuromuscular Diseases)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
FRANCIA
NOUVELLE AQUITAINE
LIMOGES
French Register of Amyotrophic Lateral Sclerosis
Faculté de médecine de Limoges
NeuroEpidémiologie Tropicale
FRANCIA
OCCITANIE
MONTPELLIER
French registry of rare hypersomnias
CHU de Montpellier - Hôpital Gui de Chauliac
Unité des Troubles du sommeil et de l'éveil
GRECIA
ATTIKI
ATHENS
PATIENT REGISTRY AND DNA BIOBANK ON NEUROGENETIC DISORDERS
University of Athens - Medical school
Neurogenetics Unit
HUNGRIA
Dél-Dunántúl
PECS
Friedreich ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics
IRLANDA
County Dublin
DUBLIN
Hunter Outcome Survey (HOS): patient registry
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders
IRLANDA
County Dublin
DUBLIN
Irish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders
IRLANDA
County Dublin
DUBLIN
Irish registry of amyotrophic lateral sclerosis and motor neurone disease - contributes to Euro-MOTOR
Trinity College Dublin
Department of Neurology - Trinity Biomedical Sciences Institute
ITALIA
CAMPANIA
NAPOLI
Bank for the Diagnosis and Research on neuromuscular Disorders (NHMGB) (EuroBioBank partner)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica
ITALIA
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
ITALIA
LOMBARDIA
BERGAMO
Angelman Syndrome Italian Registry (RISA)
ASST Papa Giovanni XXIII
Fondazione per la Ricerca dell'Ospedale di Bergamo
ITALIA
LOMBARDIA
BOSISIO PARINI
IBAHC: Italian biobank (DNA, RNA and Cellular Lines) for alternanting hemiplegia of childhood
IRCCS "E. Medea"
Laboratorio di Biologia Molecolare
ITALIA
LOMBARDIA
BOSISIO PARINI
IBAHC: Italian registry for alternating hemiplegia of childhood
IRCCS "E. Medea"
Laboratorio di Biologia Molecolare
ITALIA
LOMBARDIA
MILANO
Human DNA bank of patients affected by Parkinson disease and parkinsonisms
ASST Nord Milano
Parkinson Institute-Centro parkinson
ITALIA
LOMBARDIA
MILANO
DNA cell lines and nerve muscle cardiac tissues bank (EuroBioBank partner)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
U.O. Malattie Neuromuscolari
ITALIA
LOMBARDIA
MILANO
Movement Disorders Biobank (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
ITALIA
LOMBARDIA
SAN DONATO MILANESE
Italian registry of muscular channelopathy
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
ITALIA
PUGLIA
SAN GIOVANNI ROTONDO
Genetic Biobank from patients with Williams-Beuren syndrome and other genomic disorders
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica
ITALIA
SICILIA
CATANIA
EUROWILSON: Registry and network to improve the management of Wilson Disease
Presidio Ospedaliero Garibaldi-Nesima
Servizio di Genetica Medica - Centro di Riferimento per la Prevenzione, la Diagnosi e la Cura delle Malattie Genetiche Rare
ITALIA
TOSCANA
PISA
Italian Registry of Kernicterus and hyperbilirubinemia
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio
ITALIA
VENETO
AFFI
RESIDRAS - National Registry of Dravet Syndrome and other Syndromes correlated with genes on SCN1A and PCDH19
Dravet Italia ONLUS
NORUEGA
Nord-Norge
TROMSØ
HUE-MAN patient registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics
NORUEGA
Nord-Norge
TROMSØ
HUE-MAN mutation registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics
NORUEGA
Nord-Norge
TROMSØ
HUE-MAN biobank on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
PAISES BAJOS (LOS)
Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Neurologie
PAISES BAJOS (LOS)
Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
The ALD Connect Patient Portal
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
Biobank Inflammatory Neuromuscular Diseases (serum/peripheral bood cells/RNA/tissue/CSF)
Amsterdam UMC, locatie AMC
Afdeling Neurologie
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
E-HOD - European network and registry for homocystinurias and methylation defects (contributes to U-IMD)
Amsterdam UMC, locatie VUmc
Afdeling Interne Geneeskunde
PAISES BAJOS (LOS)
Noord-Holland
NAARDEN
Registry NXT - Genzyme's Rare Disease Registries
Genzyme Europe B.V.
PAISES BAJOS (LOS)
Utrecht
UTRECHT
ALS database
UMC Utrecht - Universitair Medisch Centrum Utrecht
Afdeling Neurologie
PAISES BAJOS (LOS)
Zuid-Holland
LEIDEN
Leiden Narcolepsy Biobank (DNA, serum, CSF and peripheral blood cells)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
PAISES BAJOS (LOS)
Zuid-Holland
LEIDEN
LUMC Biobank Hemiplegic Migraine (DNA/plasma/serum/cell lines/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
PAISES BAJOS (LOS)
Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
PAISES BAJOS (LOS)
Zuid-Holland
ROTTERDAM
OPPER: Postpartum Psychosis Biobank (whole blood, peripheral blood cells, serum, plasma, DNA and RNA)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Psychiatrie
POLONIA
Warszawa
WARSAW
Polish Registry of Patients with Neuromuscular Diseases contributes to the TREAT-NMD network
Warszawski Uniwersytet Medyczny - Medical University of Warsaw
Klinika Neurologii - Department of Neurology
PORTUGAL
NORTE
PORTO
MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research
REINO UNIDO (EL)
Cambridgeshire
CAMBRIDGE
European Prader-Willi syndrome database
Developmental Psychiatry - University of Cambridge
Learning Disabilities Research Group
REINO UNIDO (EL)
Greater London
LONDON
BPOLD: British Paediatric Orphan Lung Disease Registry
GOSH NHS Foundatin Trust
Respiratory Medicine Group
REINO UNIDO (EL)
Greater London
LONDON
Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Mutation Database: genes CLN10/CTSD; CLN1/PPT; CLN2/TPP1; CLN3; CLN4; CLN5; CLN6; CLN7/MFDS8; CLN8; CLN9; CLCN6; SGSH
UCL University College London
MRC Laboratory for Molecular Cell Biology
REINO UNIDO (EL)
Greater London
LONDON
Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry
UCL University College London
MRC Laboratory for Molecular Cell Biology
REINO UNIDO (EL)
Greater Manchester
MANCHESTER
Registry for Patients with Niemann-Pick Type C Disease
St Mary's Hospital
Manchester Cente for Genomic Medicine
REINO UNIDO (EL)
Lanarkshire
GLASGOW
PRoBaND: Parkinson's Repository of Biosamples and Network Datasets: Prospective observational study of Parkinson's disease with repeat clinical assessment and biobanking of blood samples.
Queen Elizabeth University Hospital
Institute of Neurological Sciences
REINO UNIDO (EL)
Lothian
EDINBURGH
BPOLD: British Paediatric Orphan Lung Disease Registry
Royal Hospital for Sick Children
Department of Respiratory, Sleep & General Medicine
REINO UNIDO (EL)
South Yorkshire
SHEFFIELD
EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)
REINO UNIDO (EL)
Staffordshire
STOKE ON TRENT
UK Registry for Central Hypoventilation Syndrome (CHS)
University Hospital of North Staffordshire - Cheethams Children's Centre
UK Central Hypoventilation Syndrome Registry
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE-UPON-TYNE
United Kingdom Primary Sjogren's Syndrome Registry
Faculty of Medical Sciences Newcastle University
Musculoskeletal Research Group Institute of Cellular Medicine
REINO UNIDO (EL)
West Midlands
BIRMINGHAM
EIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders
REINO UNIDO (EL)
West Midlands
BIRMINGHAM
International Niemann-Pick Disease Registry
Queen Elizabeth Hospital
Inherited Metabolic Disorders
REPUBLICA CHECA (LA)
South Moravia
BRNO
Autoimmune neuromuscular disease
Masaryk University
Department of Neurology
SUECIA
Region Skåne
LUND
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science
SUIZA
Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department
ALEMANIA
Baden-Württemberg
TÜBINGEN
MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease -terminated-
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALEMANIA
Baden-Württemberg
TÜBINGEN
MEFOPA-biobank for patients with rare Mendelian forms of Parkinson's Disease
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALEMANIA
Baden-Württemberg
TÜBINGEN
EUROSCA-R: European patient registry on spinocerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ALEMANIA
Baden-Württemberg
TÜBINGEN
EUROSCA-R: European biobank on spinocerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ALEMANIA
Baden-Württemberg
ULM
Enroll-HD Registry
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks
ALEMANIA
Baden-Württemberg
ULM
Enroll-HD Biobank
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks
ALEMANIA
Bayern
MÜNCHEN
German PAM/MFM registry: Patient registry for hereditary protein aggregate myopathies (PAM) / myofibrillar myopathies (MFM)
Friedrich-Baur-Institut
PAM/MFM-Patientenregister
ALEMANIA
Bayern
MÜNCHEN
German CMT-patient registry germany - part of the TREAT-NMD network
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALEMANIA
Bayern
MÜNCHEN
EHDN: neuroacanthocytosis patient registry
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Kognitive Neurologie - Neurologische Klinik und Poliklinik
ALEMANIA
Hamburg
HAMBURG
Registry for Patients with WT1 Mutation Associated Diseases
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALEMANIA
Niedersachsen
GÖTTINGEN
German TSE research platform: establishment of a national CJD sample bank
Universitätsmedizin Göttingen
Prionforschungsgruppe
ALEMANIA
Nordrhein-Westfalen
AACHEN
CMT- Net: National biobank
Universitätsklinikum Aachen
Institut für Neuropathologie
ALEMANIA
Nordrhein-Westfalen
BONN
EUROSCA-R: European patient registry on spinocerebellar ataxias
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
BONN
EUROSCA-R: European biobank on spinocerebellar ataxias
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
BONN
European registry of sporadic degenerative ataxia with adult onset
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
DÜSSELDORF
Neuromyelitis optica patient registry
Universitätsklinikum Düsseldorf
Neuromyelitis optica Studiengruppe (NEMOS)
ALEMANIA
Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell
ALEMANIA
Sachsen-Anhalt
MAGDEBURG
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ALEMANIA
Schleswig-Holstein
LÜBECK
DYSTRACT: German Dystonia Registry
Universität Lübeck
Institut für Neurogenetik
AUSTRALIA
New South Wales
WESTMEAD
RettBASE: RettSyndrome.org variation database
University of Sydney
Children's Hospital - Paediatrics and Child Health
AUSTRALIA
Victoria
MEKBOURNE
Myeloma and Related Diseases Registry (MRDR)
Monash University
Department of Epidemiology & Preventive Medicine
AUSTRIA
OBERÖSTERREICH
LINZ
Non-Interventional, web-based Registry for Histiocytic Disorders
Ordensklinikum Linz GmbH Elisabethinen
Interne 1 - Hämatologie mit Stammzelltransplantation, Hämostaseologie und medizinische Onkologie
AUSTRIA
STEIERMARK
GRAZ
Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen
BELGICA
ANTWERPEN
ANTWERPEN
Antwerpen registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen
BELGICA
HAINAUT
GOSSELIES
Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)
BELGICA
OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent
CANADA
Colombie-Britannique
VANCOUVER
Glomerulonephritis Registry
Centre for Health Evaluation and Outcome Sciences (CHEOS)
Department of Nephrology
DINAMARCA
Syddanmark
ODENSE
Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department
ESPAÑA
Asturias
OVIEDO
Registro MEN: Registro de Neoplasias Endocrinas Múltiples, Feocromocitomas y Paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición
ESPAÑA
Cataluña
BELLATERRA
Biobanco de reparación del DNA
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA
ESPAÑA
Comunidad Valenciana
VALENCIA
TREAT-CMT: Base de datos de mutaciones CMT en la población española
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de Genética y Genómica de Enfermedades Neuromusculares y Neurodegenerativas
ESPAÑA
Madrid
MADRID
Registro Nacional de Encefalopatías Espongiformes Transmisibles Humanas
Centro Nacional de Epidemiología (CNE)
Area de Epidemiología Aplicada
ESPAÑA
País Vasco
VITORIA-GASTEIZ
RACAV: Registro de anomalías congénitas del País Vasco - contribuye a la red EUROCAT
Gobierno Vasco. Departamento de Salud
ESTADOS UNIDOS
Georgia
ATLANTA
CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center
ESTADOS UNIDOS
Kansas
OLATHE
ESTADOS UNIDOS
Virginia
CHARLOTTESVILLE
GNAO1 International Patient Registry
University of Virginia Health System
Department of Neurology
FINLANDIA
Finland
HELSINKI
Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
French registry of Kabuki syndrome
Institution: Information not provided - FR
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
EDMUS - NOMADMUS: French biobank of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec
FRANCIA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Auvergne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale
FRANCIA
AUVERGNE-RHONE-ALPES
LYON
Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA
FRANCIA
BRETAGNE
RENNES
Bretagne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCIA
BRETAGNE
RENNES
French registry of Iron overload genetic rare diseases, non-related to the HFE gene
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie
FRANCIA
CENTRE-VAL DE LOIRE
TOURS
NF-France: genotype/phenotype database on neurofibromatosis 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps
FRANCIA
GRAND-EST
REIMS
CRB TOXOPLASMA: biological resources centre - Toxoplasma
UFR de Médecine de Reims IFR 53
Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)
FRANCIA
GRAND-EST
STRASBOURG
UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCIA
GRAND-EST
STRASBOURG
UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCIA
HAUTS-DE-FRANCE
LOMME
French registry of tetrahydrobiopterin deficiencies
Hôpital Saint-Philibert
Laboratoire de biochimie
FRANCIA
ILE-DE-FRANCE
CRÉTEIL
NF-France: genotype/phenotype database on neurofibromatosis 1
Hôpitaux Universitaires Henri Mondor
Service de dermatologie
FRANCIA
ILE-DE-FRANCE
PARIS
Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé
FRANCIA
ILE-DE-FRANCE
PARIS
SYRENE: Rett syndrome network - French database of clinical and genetic aspects of Rett syndrome
Hôpital Necker-Enfants Malades
Service de Neurologie pédiatrique
FRANCIA
OCCITANIE
TOULOUSE
RaDiCo-AC-OEIL: National cohort on congenital defects of the eye : natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management
CHU de Toulouse - Hôpital Purpan
Service de génétique médicale
FRANCIA
OUTRE-MER
FORT DE FRANCE
French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDP)
FRANCIA
OUTRE-MER
SAINT-PIERRE
La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale
HUNGRIA
Dél-Dunántúl
PECS
Huntington disease biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HUNGRIA
Dél-Dunántúl
PECS
Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HUNGRIA
Dél-Dunántúl
PECS
Rett syndrome biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HUNGRIA
Dél-Dunántúl
PECS
Spinocerebellar ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HUNGRIA
Dél-Dunántúl
PECS
Tuberous sclerosis biobank
Clinical Center - University of Pécs
Department of Medical Genetics
IRLANDA
County Cork
CORK
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health
IRLANDA
County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
HSE Registry of Congenital Anomalies (East)
IRLANDA
County Kilkenny
KILKENNY
South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies
ITALIA
CAMPANIA
BENEVENTO
Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica
ITALIA
EMILIA ROMAGNA
REGGIO EMILIA
Ring14 Clinical database
Associazione Internazionale Ring 14 ONLUS
ITALIA
LAZIO
ROMA
Italian registry of Creutzfeldt-Jakob disease and correlated syndromes
ISS - Istituto Superiore di Sanità
Dipartimento di Biologia Cellulare e Neuroscienze
ITALIA
SICILIA
CATANIA
ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite
ITALIA
TOSCANA
PISA
Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
ITALIA
TOSCANA
SIENA
Cells lines and DNA bank of Rett syndrome and other X-linked mental retardation
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
ITALIA
TOSCANA
SIENA
Rett Syndrome Database
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
ITALIA
VENETO
PADOVA
North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica
ITALIA
VENETO
PADOVA
North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica
MALTA
MALTA
G'MANGIA
MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
PAISES BAJOS (LOS)
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PAISES BAJOS (LOS)
Zuid-Holland
LEIDEN
LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
POLONIA
Poznan
POZNAN
PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej
PORTUGAL
NORTE
PORTO
Portuguese Rett syndrome registry
Hospital de Santo António - Centro Hospitalar do Porto
Serviço de Pediatria Médica
PORTUGAL
SUL
LISBOA
RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia
REINO UNIDO (EL)
East Sussex
BRIGHTON
TuberOus SClerosis registry to increase disease Awareness (TOSCA)
Royal Sussex County Hospital
Sussex Kidney Unit
REINO UNIDO (EL)
Greater Manchester
MANCHESTER
CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK
St Mary's Hospital
Manchester Cente for Genomic Medicine
REINO UNIDO (EL)
Gwent
CARDIFF
UK Huntington disease registry (collaborating with the EHDN/Euro HD Registry)
Cardiff School of Biosciences
REINO UNIDO (EL)
Gwent
CARDIFF
UK Huntington disease biobank (collaborating with the EHDN/Euro HD Biobank)
Cardiff School of Biosciences
REINO UNIDO (EL)
Gwent
CARDIFF
Huntington's Disease Fetal Tissue Collection: The collection of Huntington's Disease positive fetal tissue from elective termination of pregnancy
Cardiff School of Biosciences
REINO UNIDO (EL)
Hampshire
SOUTHAMPTON
WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network
Princess Anne Hospital
Paediatric Endocrinology and the Wessex Clinical Genetics Service
REINO UNIDO (EL)
Merseyside
LIVERPOOL
United Kingdom neuromyelitis optica registry
The Walton Centre NHS Foundation Trust
The Walton Centre for Neurology and Neurosurgery
REINO UNIDO (EL)
Nottinghamshire
NOTTINGHAM
Ataxia-Telangiectasia International Registry (A-T Society)
William Whitehouse
Pediatric Neurology Department
REINO UNIDO (EL)
Oxfordshire
OXFORD
UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine
REINO UNIDO (EL)
South Yorkshire
SHEFFIELD
EHDN: registry of juvenile Huntington's disease
The Sheffield Children's Hospital
Sheffield Clinical Genetics Department (part of the Sheffield Clinical Genetics Service)
REINO UNIDO (EL)
Tayside
EDINBURGH
Rett Syndrome Mutation Database: MeCP2 gene
MRC Centre for Regenerative Medicine
Institute for Stem Cell Research
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
The International GNE Myopathy Registry - Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease (part of the TREAT-NMD network) - UK
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
International A-T Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
SUECIA
Region Skåne
LUND
MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
CD59base: Mutation registry for CD59 deficiency
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
TLR3base: Mutation registry for Influenza-associated encephalopathy
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lund University
Department of Experimental Medical Science
SUIZA
Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)
SUIZA
Suisse Alémanique
ZÜRICH
BH4: international mutation registry of tetrahydrobiopterin deficiency
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SUIZA
Suisse Romande
LAUSANNE
Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries)
Centre Hospitalier Universitaire Vaudois CHUV
Swiss registries for Interstitial and Orphan Lung Diseases
SUIZA
Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité
ALEMANIA
Bayern
MÜNCHEN
German DMD- and SMA-patient registry : Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
BULGARIA
South-West region
SOFIA
Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network
University Hospital Alexandrovska
Clinic of neurology
CANADA
Québec
MONTRÉAL
Canadian Inflammatory Myopathy Study (CIMS)
Hôpital général juif - Jewish General Hospital
Rheumatology Department, Suite A 725
CANADA
Québec
MONTRÉAL
Canadian Inflammatory Myopathy Study (CIMS)
Montreal Neurological Institute and Hospital
Clinical Research Unit (CRU)
CROACIA
CROATIA
ZAGREB
Registry for neuromuscular disease
University Hospital Centre Zagreb
Department of Child Neurology
ESPAÑA
Cataluña
BARCELONA
Registro de pacientes Atrofia Muscular Espinal España - parte de la red TREAT-NMD
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAÑA
Madrid
MADRID
Plataforma MYO-SPAIN: Registro de pacientes con miopatía inflamatoria idiopática de España
Sociedad Española de Reumatología
FRANCIA
GRAND-EST
STRASBOURG
Mutation registry of the Coffin-Lowry syndrome
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCIA
ILE-DE-FRANCE
PARIS
RaDiCo-PP: National cohort on periodic paralysis : clinical, genetic and medico-economic studies involving m-health monitoring tools
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Unité Neurogénétique et métabolisme
FRANCIA
ILE-DE-FRANCE
PARIS
French registry for macrophagic myofasciitis
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Département de Médecine Interne et Immunologie Clinique (DMIIC)
FRANCIA
ILE-DE-FRANCE
PARIS
French auto-immunity and Rituximab (AIR) registry: prospective study of patients treated with Rituximab
CHU Paris Centre - Hôpital Cochin, Site Cochin
Unité fonctionnelle de Médecine interne et centre de référence maladies rares
HUNGRIA
Dél-Dunántúl
PECS
Epilepsy biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HUNGRIA
Közép-Magyarország
BUDAPEST
SMA registry Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics
IRLANDA
County Dublin
DUBLIN
Irish Dystonia DNA Biobank
St. Vincent's University Hospital
Department of Neurology
ITALIA
CAMPANIA
NAPOLI
Naples Human Mutation Gene Biobank
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica
ITALIA
LAZIO
ROMA
Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network
Parent Project aps
ITALIA
LOMBARDIA
MILANO
RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to Treat-NMD european network
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche
ITALIA
PIEMONTE
NOVARA
BIODEF-International Database of tetrahydrobiopterin Deficiencies
Università degli Studi del Piemonte Orientale
Laboratorio di Patologia Genetica
ITALIA
SICILIA
MESSINA
Transthyretin amyloid neuropathy (TTR-FAP) italian registry
A.O.U. Policlinico "G. Martino"
Centro Clinico Nemo Sud - Centro ad alta specializzazione per le malattie neuromuscolari
ITALIA
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
PAISES BAJOS (LOS)
Groningen
GRONINGEN
L1CAM Mutation Database
UMCG - Universitair Medisch Centrum Groningen
Laboratorium DNA Diagnostiek
PAISES BAJOS (LOS)
Zuid-Holland
ROTTERDAM
Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC
REINO UNIDO (EL)
Greater London
LONDON
MCRN078 (E2080-E044-401): European Registry of Anti-Epileptic Drug Use in Patients with Lennox-Gastaut Syndrome - UK
The Wolfson Centre
Neurosciences Unit
REINO UNIDO (EL)
Greater Manchester
SALFORD
EuroMyositis registry
Hope Hospital, University of Manchester
The University of Manchester Rheumatic Diseases Centre
REINO UNIDO (EL)
Surrey
SUTTON
FCLL - A Genetic Study of Chronic Lymphocytic Leukaemia and Other Lymphoproliferative Disease
The Institute of Cancer Research
Section of Epidemiology
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD network)
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD network)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
REPUBLICA CHECA (LA)
South Moravia
BRNO
Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT-NMD network
University hospital Brno
Institute of Biostatistics and Analyses
SUECIA
Region Skåne
LUND
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)
Lund University
Department of Experimental Medical Science
SUECIA
Region Västerbotten
UMEÅ
Swedish Registry for Familial Amyloid Polyneuropathy
University Hospital of Umeå
Department of Medicine
SUIZA
Suisse Alémanique
BASEL
Swiss Registry for Neuromuscular Disorders
Universitäts-Kinderspital beider Basel UKBB
Die Abteilung für Neuro- und Entwicklungspädiatrie
SUIZA
Suisse Alémanique
BERN
Swiss Registry for Neuromuscular Disorders
Institute of Social and Preventive Medicine (ISPM)
TURQUIA
TURKEY
ANKARA
Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network
Hacettepe University Faculty of Medicine
Department of physical therapy and rehabilitation
TURQUIA
TURKEY
ISTANBUL
Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network
Acibadem University
Department of neurology
UCRANIA
UKRAINE
KHARKIV
Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network
Academy of medical science of Ukraine
Institute of Neurology, Psychiatry and Narcology
ALEMANIA
Bayern
MÜNCHEN
German IBM registry: Patient registry for aquired or sporadic inclusion body myositis
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALEMANIA
Bayern
MÜNCHEN
German DM registry: Patient registry for myotonic dystrophy (DM)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALEMANIA
Hessen
FRANKFURT AM MAIN
Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
ALEMANIA
Hessen
MARBURG
German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie
AUSTRALIA
Western Australia
CRAWLEY
Nemaline myopathy variant database
University of Western Australia and Western
Centre for MedicalResearch
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: registry of the European network for the study of orphan nephropathies
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
CANADA
Ontario
TORONTO
The Lafora progressive myoclonus epilepsy mutation and polymorphism database
The Centre for Applied Genomics
ESPAÑA
Asturias
OVIEDO
RenalTube: Base de datos de pacientes con tubulopatías primarias
Hospital Universitario Central de Asturias
Servicio de Pediatría
ESPAÑA
Cataluña
BARCELONA
EUROMAC: Registro de pacientes afectados por la enfermedad de McArdle
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
FRANCIA
BRETAGNE
RENNES
French cohort of rhombencephalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique
FRANCIA
BRETAGNE
RENNES
French biological collection of rhombencephalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique
FRANCIA
ILE-DE-FRANCE
CRÉTEIL
DM Scope: Myotonic dystrophy patient registry in France - part of the TREAT-NMD network
Hôpitaux Universitaires Henri Mondor
Service de neurologie
FRANCIA
ILE-DE-FRANCE
PARIS
French cohort in genetic microcephalies
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
FRANCIA
ILE-DE-FRANCE
PARIS
CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un système complexe
FRANCIA
ILE-DE-FRANCE
PARIS
CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Service de Génétique
FRANCIA
ILE-DE-FRANCE
PARIS
UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCIA
ILE-DE-FRANCE
PARIS
FRANCIA
OCCITANIE
MONTPELLIER
French cohort of focal dystonia famillies
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
ITALIA
LAZIO
ROMA
RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALIA
LAZIO
ROMA
V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALIA
LAZIO
ROMA
Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to european Treat-NMD network
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. Neuropsichiatria Infantile
ITALIA
LOMBARDIA
MILANO
INNCB MG Registry
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
U.O. Neurologia IV - Malattie Neuromuscolari e Neuroimmunologia
ITALIA
LOMBARDIA
SAN DONATO MILANESE
Italian registry of myotonic dystrophies
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
REINO UNIDO (EL)
Greater London
LONDON
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
GOSH NHS Foundatin Trust
Juvenile Dermatomyositis Research Centre
REINO UNIDO (EL)
Greater London
LONDON
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
GOSH NHS Foundatin Trust
Rheumatology Unit
REINO UNIDO (EL)
Greater London
LONDON
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
The Institute of Child Health & The Division of Medicine, UCL
The Institute of Child Health & The Division of Medicine
REINO UNIDO (EL)
Merseyside
LIVERPOOL
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Alder Hey Children's Hospital
Department of Rheumatology
REINO UNIDO (EL)
South Glamorgan
CARDIFF
Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network
University Hospital of Wales
Institute of Medical Genetics
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
SUECIA
Region Skåne
LUND
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lund University
Department of Experimental Medical Science
ALEMANIA
Bayern
MÜNCHEN
German FSHD registry: Patient registry for Facioscapulohumeral dystrophy (FSHD)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALEMANIA
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche
ALEMANIA
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
AUSTRALIA
New South Wales
MARRICKVILLE
DuchenneConnect Australia patient registry
Save Our Sons Duchenne Foundation
ESPAÑA
Cataluña
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad
ESTADOS UNIDOS
Washington
SEATTLE
The Dysferlin Registry/LGMD2B/Miyoshi Myopathy 1
Jain Foundation Inc.
FRANCIA
ILE-DE-FRANCE
PARIS
Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires
FRANCIA
ILE-DE-FRANCE
PARIS
Laminopathies and emerinopathies patient registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"
FRANCIA
OCCITANIE
MONTPELLIER
Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCIA
PAYS DE LA LOIRE
ANGERS
eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
UF de Biologie Moléculaire
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
UMD-DYSF, a locus-specific database for the compilation and interactive analysis of mutations in the Dysferlin gene.
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
French National FSHD Registry
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
HUNGRIA
Közép-Magyarország
BUDAPEST
DMD registry - Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics
ITALIA
EMILIA ROMAGNA
MODENA
Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - contributes to european Treat-NMD network
Università degli Studi di Modena e Reggio Emilia
Miogen
ITALIA
LOMBARDIA
MILANO
Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to european Treat-NMD network
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
FSHD registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie
PAISES BAJOS (LOS)
Zuid-Holland
LEIDEN
Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of the TREAT-NMD network
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
PORTUGAL
NORTE
PORTO
Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network
CGMJM - Centro de Genética Médica Jacinto Magalhães
Centro de Genética Médica Jacinto Magalhães
REINO UNIDO (EL)
Greater London
LONDON
UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the TREAT-NMD network)
Action Duchenne
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
The MTM and CNM Registry - The Myotubular and Centronuclear Myopathy Patient Registry
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
The Global Registry for COL6-related dystrophies
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
The MTM and CNM Registry - The Myotubular and Centronuclear Myopathy Patient Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
UK facioscapulohumeral muscular dystrophy patient registry (part of the TREAT-NMD network)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
REPUBLICA CHECA (LA)
South Moravia
BRNO
Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and Slovakia - contributes to the TREAT-NMD network
University hospital Brno
Institute of Biostatistics and Analyses
ALEMANIA
Hamburg
HAMBURG
Pompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ESPAÑA
Cataluña
BARCELONA
Registro español de pacientes con distrofia muscular tipo Duchenne - parte de la red TREAT-NMD
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAÑA
Comunidad Valenciana
VALENCIA
Registro español de pacientes con distrofia muscular tipo Duchenne - parte de la red TREAT-NMD
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica
ESPAÑA
Madrid
MADRID
Registro español de pacientes con la enfermedad de McArdle
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
ESPAÑA
Madrid
VILLAVICIOSA DE ODÓN
Registro español de pacientes con la enfermedad de McArdle
Universidad Europea de Madrid. Facultad de Ciencias de la Salud
Laboratorio de Fisiología del Ejercicio
FRANCIA
ILE-DE-FRANCE
PARIS
UMD DMD (Dystrophin) mutations database
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires
FRANCIA
ILE-DE-FRANCE
PARIS
UMD EMD (Emerin) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCIA
ILE-DE-FRANCE
PARIS
French certified registry of glycogen storage disease type 2
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
FRANCIA
OCCITANIE
MONTPELLIER
UMD DMD (Dystrophin) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
ITALIA
LOMBARDIA
MILANO
Bank of cells, tissues and DNA from patients with neuromuscular diseases (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Laboratorio di Biologia della Cellula Muscolare
REINO UNIDO (EL)
Essex
LONDON
North Star database
Great Ormond Street Hospital
Dubowitz Neuromuscular Centre
SUECIA
Region Skåne
LUND
TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science
SUIZA
Suisse Alémanique
BERN
Swiss Pompe Registry
Inselspital Universitätsspital
Centre for Neuromuscular Diseases
Redes de registos y biobancos
ALEMANIA
Bayern
MÜNCHEN
BNE: BRAINNET EUROPE II (Network of European Brain and Tissue Banks for Clinical and Basic Neuroscience)
Zentrum für Neuropathologie und Prionforschung (ZNP)
Zentrum für Neuropathologie und Prionforschung der LMU München
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (registries)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
ALEMANIA
Baden-Württemberg
HEIDELBERG
iNTD Network - International Working Group on Neurotransmitter Related Disorders
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
E-HOD - European network and registry for homocystinurias and methylation defects
Amsterdam UMC, locatie VUmc
Afdeling Interne Geneeskunde
REINO UNIDO (EL)
South Yorkshire
SHEFFIELD
EUROWILSON: European network on Wilson disease (registries)
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
EURORETT: European network on Rett syndrome (registry)
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
REINO UNIDO (EL)
Antrim and Newtownabbey
NEWTOWNABBEY