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365 Résultat(s)
Financé par un membre IRDiRC = 
Membre d'un ERN = 
Registres et biobanques
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Registre Central des Maladies Rares / Centraal Register Zeldzame Ziekten
Sciensano
Health Services Research - Rare Diseases
ESPAGNE
Andalucía
SEVILLA
Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Subdirección Técnica Asesora de Gestión de la Información
ESPAGNE
Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria
ESPAGNE
Cantabria
SANTANDER
Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria
ESPAGNE
Comunidad Valenciana
VALENCIA
SIER-CV: Information System on rare diseases in Valencian Community (Spain)
Generalitat Valenciana. Conselleria de Sanitat
Servicio de Estudios Epidemiológicos y Vigilancia de Enfermedades No Transmisibles
ESPAGNE
Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
ESPAGNE
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Atención Hospitalaria
ESPAGNE
Madrid
MADRID
RePER: Rare Diseases Patient Registry
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
ESPAGNE
Murcia
MURCIA
SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria
ESPAGNE
Navarra
PAMPLONA
RERNA: Population-based Rare Disease Registry of Navarre (Spain)
Instituto de Salud Pública y Laboral de Navarra
ESPAGNE
País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco
ESPAGNE
País Vasco
VITORIA-GASTEIZ
Rare Diseases Registry of the Basque Country
Gobierno Vasco. Departamento de Salud
Registro de Enfermedades Raras de la Comunidad Autónoma de Euskadi
ETATS-UNIS
South Dakota
SIOUX FALLS
CORDS Registry: Coordination of Rare Diseases at Sanford Registry
Sanford Research
Standford Research
FRANCE
ILE-DE-FRANCE
PARIS
Banque Nationale de Données Maladies Rares (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)
ITALIE
LAZIO
ROMA
RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIE
TOSCANA
PISA
Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio
ITALIE
VENETO
PADOVA
Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto
SUISSE
Suisse Alémanique
BERN
Swiss Rare Disease Registry (SRSK)
Institute of Social and Preventive Medicine (ISPM)
SUISSE
Suisse Alémanique
ZÜRICH
Swiss Rare Disease Registry (SRSK)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
ERN [RND] - ERN-RND Registry: The ERN-RND Rare Neurological Disease Registry
ZSE Tübingen
Zentrum für Seltene Erkrankungen (ZSE) Tübingen
ALLEMAGNE
Nordrhein-Westfalen
BONN
DZNE Brain Bank - Biomaterial Bank of Postmortem Brain Tissue for the Research on Neurodegenerative Diseases
DZNE-Standort Bonn
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V.
AUTRICHE
SALZBURG
SALZBURG
ASCIS - The Austrian Spinal Cord Injury Study
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Universitätsklinik für Orthopädie und Traumatologie
BELGIQUE
ANTWERPEN
ANTWERPEN
Collection of FRA12A carrier DNA samples
University of Antwerp - UA, Campus Drie Eiken
Medical Genetics Unit
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Registre belge des maladies neuromusculaires / Belgisch register van neuromusculaire aandoeningen
Sciensano
Health Services Research - Rare Diseases
BELGIQUE
VLAAMS BRABANT
LEUVEN
CANADA
Alberta
CALGARY
Canadian Neuromuscular Disease Registry
University of Calgary Health Science Centre
Department of Clinical Neurosciences
ESPAGNE
Cataluña
BARCELONA
NMD-ES: Spanish Registry of Neuromuscular Diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Pediatric Biobank for Research
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco Pediátrico para la Investigación
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RaDiCo-GenIDA: Réseau Social international pour le recueil d'informations sur l'histoire naturelle de formes monogéniques rares de déficience intellectuelle (DI)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCE
ILE-DE-FRANCE
EVRY
Banque d'ADN et de cellules humaines de Généthon - maladies génétiques, principalement les maladies neuromusculaires - partenaire du réseau EuroBioBank
Généthon
Centre de Recherche Généthon
FRANCE
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
FRANCE
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
ITALIE
VENETO
PADOVA
Neuromuscular Tissue Bank (NMTB)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Tissue Bank
PAYS-BAS
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Afdeling Klinische Genetica
PAYS-BAS
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Biobank Klinische Genetica Maastricht
ROYAUME-UNI
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Familial Gastric Cancer - Addenbrookes
ROYAUME-UNI
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research
SLOVENIE
SLOVENIA
LJUBLJANA
Human tissue biobank of Neuromuscular diseases (EuroBioBank partner)
University Medical Center Ljubljana
Institute of Anatomy
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
iNTD (International Working Group on Neurotransmitter Related Disorders) Registry
Dietmar-Hopp-Stoffwechselzentrum
Klinik Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
EIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: HSP Registry
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALLEMAGNE
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
ALLEMAGNE
Baden-Württemberg
ULM
ALS registry swabia
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Klinik für Neurologie
ALLEMAGNE
Bayern
MÜNCHEN
MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALLEMAGNE
Bayern
MÜNCHEN
TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALLEMAGNE
Bayern
MÜNCHEN
Neurobiobank Munich
Zentrum für Neuropathologie und Prionforschung (ZNP)
Zentrum für Neuropathologie und Prionforschung der LMU München
ALLEMAGNE
Hamburg
HAMBURG
DEM-CHILD : International neuronal ceroid lipofuscinoses patient registry
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten
ALLEMAGNE
Hamburg
HAMBURG
Mucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALLEMAGNE
Hamburg
HAMBURG
Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALLEMAGNE
Mecklenburg-Vorpommern
ROSTOCK
ALLEMAGNE
Nordrhein-Westfalen
AACHEN
EUROFA - EFACT: Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Universitätsklinikum Aachen
Klinik für Neurologie
ALLEMAGNE
Nordrhein-Westfalen
BONN
GEPARD: genebank of Parkinson's disease
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALLEMAGNE
Nordrhein-Westfalen
MÜNSTER
Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases
Universitätsklinikum Münster
Herz-MRT-Zentrum
ALLEMAGNE
Rheinland-Pfalz
MAINZ
ESPED: Rare Paediatric Diseases Survey Unit in Germany
Universitätsmedizin der Johannes Gutenberg-Universität Mainz
ESPEDGeschäftsstelle
ALLEMAGNE
Sachsen
LEIPZIG
Angelman syndrome Online Registry
Institut für Humangenetik am Universitätsklinikum Leipzig
Institut für Humangenetik
ALLEMAGNE
Schleswig-Holstein
KIEL
CONNECT-GENERATE: National registry for autoimmune encephalitis
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Neurologie
AUSTRALIE
New South Wales
WESTMEAD
MiNDAUS Clinical Registry: Australian Motor Neurone Disease Registry
University of Sydney
MiNDAUS Registry
AUSTRALIE
Queensland
SOUTH BRISBANE
Global Angelman Syndrome Registry
Centre for Children's Health Research
Developmental Paediatrics Group, Mater Research
AUTRICHE
TIROL
INNSBRUCK
EMSA-SG: central patient registry of the European multiple system atrophy network
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie
BELGIQUE
ANTWERPEN
ANTWERPEN
Inherited Peripheral Neuropathies Mutation Database - IPNMD
University of Antwerp - UA, Campus Drie Eiken
Inherited Peripheral Neuropathies Mutation Database
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EuRRECa: European Registries for Rare Endocrine Conditions - Belgian contribution (HUDERF)
Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF
Unité d'endocrinologie - HUDERF
BULGARIE
South Central region
PLOVDIV
National registry of patients with Wilson disease in Bulgaria
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs
BULGARIE
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
BULGARIE
South-West region
SOFIA
National registry of patients with phenylketonuria in Bulgaria
University hospital of Obstetrics and Gynecology
Laboratory of molecular pathology - National Genetics Laboratory
DANEMARK
Hovedstaden
COPENHAGEN
Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics
DANEMARK
Sjælland
COPENHAGEN
The PKU biobank as a national research source
Statens Serum Institut
Department of clinical biochemistry
ESPAGNE
Baleares
PALMA DE MALLORCA
RERIB: Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Consejería de Salud y Consumo
Servicio de Epidemiología
ESPAGNE
Castilla - León
SALAMANCA
National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN
ESPAGNE
Cataluña
BARCELONA
Registry of patients with Wilson disease in Spain
Hospital Clínic de Barcelona
Servicio de Hepatología
ESPAGNE
Madrid
MADRID
SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Direccion General de Salud Publica
Subdirección General de Vigilancia en Salud Pública
ETATS-UNIS
California
SAN FRANCISCO
The SICCA registry: Sjogren's International Collaborative Clinical Alliance registry
University of California
Department of Orofacial Sciences
ETATS-UNIS
Pennsylvania
DOWNINGTOWN
FAGPR: Friedreich Ataxia global patient registry
FARA - Friedreichs Ataxia Research Alliance
ETATS-UNIS
Texas
DALLAS
Glucose transporter type 1 deficiency (G1D) Registry
Ut Southwestern Medical Center
Department of Neurology and Neurotherapeutics
FRANCE
AUVERGNE-RHONE-ALPES
BRON
EDMUS - NOMADMUS: cohorte française de neuro-optico-myélite aiguë de Devic et des syndromes neurologiques apparentés
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec
FRANCE
AUVERGNE-RHONE-ALPES
BRON
EDMUS: banque de données européenne sur la sclérose en plaques et autres maladies apparentées
CHU de Lyon HCL - GH Est
Service de Neurologie A - EDMUS Coordinating Center
FRANCE
AUVERGNE-RHONE-ALPES
BRON
Consortium international pour la recherche sur l'hémiplégie alternante de l'enfance
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Banque d'ADN et de cellules pour l'hémiplégie alternante de l'enfant
Institution: Information not provided - FR
FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
RaDiCo-IDMet: Cohorte nationale et européenne sur les pathologies d'empreinte et leurs conséquences métaboliques
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANCE
ILE-DE-FRANCE
PARIS
Cohortes françaises de malades atteints de syndrome de Sneddon et de livédo suspect de syndrome de Sneddon
AP-HP Sorbonne Université - Hôpital Tenon
Service de dermatologie, allergologie etmédecine vasculaire
FRANCE
ILE-DE-FRANCE
PARIS
RaDiCo-IDMet: Cohorte nationale et européenne sur les pathologies d'empreinte et leurs conséquences métaboliques
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Endocrinologie Moléculaire et Pathologies d'empreinte
FRANCE
ILE-DE-FRANCE
PARIS
EU-CHS: Registre français du syndrome d'Ondine - contribuant au registre européen CHS
CHU Paris - Hôpital Robert Debré
Equipe 'Physiopathologie et neuroprotection des atteintes du cerveau en développement'
FRANCE
ILE-DE-FRANCE
PARIS
Registre MATHEC-SFGM-TC
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Unité de Médecine Interne (UF 04): CRMR MATHEC, Maladies Auto-immunes et Thérapie Cellulaire
FRANCE
ILE-DE-FRANCE
PARIS
Wilson France Register
Hôpital Fondation Adolphe de Rothschild
Service de Neurologie - CRMR Wilson
FRANCE
ILE-DE-FRANCE
PARIS
Registre de mutations d'UMD ATP7B (ATPase, Cu++ transporting, beta polypeptide)
Hôpital Necker-Enfants Malades
Biochimie Métabolomique et Protéomique
FRANCE
ILE-DE-FRANCE
PARIS
Base de données des mesures de la fonction motrice (maladies neuromusculaires)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
FRANCE
ILE-DE-FRANCE
PARIS
FRANCE
NOUVELLE AQUITAINE
LIMOGES
FRALIM: Registre Français des cas de Sclérose Latérale Amyotrophique
Faculté de médecine de Limoges
NeuroEpidémiologie Tropicale
GRECE
ATTIKI
ATHENS
PATIENT REGISTRY AND DNA BIOBANK ON NEUROGENETIC DISORDERS
University of Athens - Medical school
Neurogenetics Unit
HONGRIE
Dél-Dunántúl
PECS
Friedreich ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics
IRLANDE
County Dublin
DUBLIN
Hunter Outcome Survey (HOS): patient registry
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders
IRLANDE
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
IRLANDE
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
ITALIE
CAMPANIA
NAPOLI
Naples Human Mutation Gene Bank (NHMGB) (EuroBioBank partner)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
UOSD Genetica Medica
ITALIE
LOMBARDIA
BERGAMO
Angelman Syndrome Italian Registry (RISA)
ASST Papa Giovanni XXIII
Fondazione per la Ricerca dell'Ospedale di Bergamo
ITALIE
LOMBARDIA
BOSISIO PARINI
IBAHC: Italian biobank (DNA, RNA and Cellular Lines) for alternanting hemiplegia of childhood
IRCCS "E. Medea"
Laboratorio di Biologia Molecolare
ITALIE
LOMBARDIA
BOSISIO PARINI
IBAHC: Italian registry for alternating hemiplegia of childhood
IRCCS "E. Medea"
Laboratorio di Biologia Molecolare
ITALIE
LOMBARDIA
BRESCIA
Biobank IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli (BioBank FBF)
IRCCS Centro S.Giovanni di Dio - Fatebenefratelli
Biobank Service
ITALIE
LOMBARDIA
MILANO
Movement Disorders Biobank (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
S.S. Genetica dei Disturbi del Movimento e Disordini del Metabolismo Energetico
ITALIE
LOMBARDIA
SAN DONATO MILANESE
Italian registry of muscular channelopathy
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
ITALIE
PIEMONTE
ORBASSANO
CRESM Biobank (BB-CRESM)
Azienda Ospedaliero-Universitaria San Luigi Gonzaga
Laboratorio di Neurobiologia Clinica
ITALIE
TOSCANA
PISA
Italian Registry of Kernicterus and hyperbilirubinemia (RIKI)
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio
ITALIE
TOSCANA
SESTO FIORENTINO (FIRENZE)
Da Vinci European Biobank
Università degli Studi di Firenze
Da Vinci European Biobank
ITALIE
TOSCANA
SIENA
Siena Genetic Biobank
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
ITALIE
VENETO
AFFI
RESIDRAS - National Registry of Dravet Syndrome and other Syndromes correlated with genes on SCN1A and PCDH19
Dravet Italia ONLUS
NORVEGE
Nord-Norge
TROMSØ
HUE-MAN mutation registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics
NORVEGE
Nord-Norge
TROMSØ
HUE-MAN biobank on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics
PAYS-BAS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAYS-BAS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
PAYS-BAS
Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
Maastricht UMC+
Afdeling Neurologie
PAYS-BAS
Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
Maastricht UMC+
Biobank Klinische Genetica Maastricht
PAYS-BAS
Noord-Holland
AMSTERDAM
Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
The MLD initiative
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
The ALD Connect Patient Portal
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
ALD Mutation Database
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
PAYS-BAS
Noord-Holland
AMSTERDAM
Biobank Inflammatory Neuromuscular Diseases (serum/peripheral bood cells/RNA/tissue/CSF)
Amsterdam UMC, locatie AMC
Afdeling Neurologie
PAYS-BAS
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
PAYS-BAS
Utrecht
UTRECHT
Biobank Neuromuscular Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
ALS Centrum Nederland
PAYS-BAS
Zuid-Holland
LEIDEN
Leiden Narcolepsy Biobank (DNA, serum, CSF and peripheral blood cells)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
PAYS-BAS
Zuid-Holland
LEIDEN
LUMC Biobank Hemiplegic Migraine (DNA/plasma/serum/cell lines/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
PAYS-BAS
Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
PAYS-BAS
Zuid-Holland
ROTTERDAM
OPPER: Postpartum Psychosis Biobank (whole blood, peripheral blood cells, serum, plasma, DNA and RNA)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Psychiatrie
POLOGNE
Warszawa
WARSAW
Polish Registry of Patients with Neuromuscular Diseases
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
ROYAUME-UNI
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
ROYAUME-UNI
Greater London
LONDON
Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry
UCL University College London
MRC Laboratory for Molecular Cell Biology
ROYAUME-UNI
Greater Manchester
MANCHESTER
Registry for Patients with Niemann-Pick Type C Disease
St Mary's Hospital
Manchester Cente for Genomic Medicine
ROYAUME-UNI
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
ROYAUME-UNI
Staffordshire
STOKE ON TRENT
EU-CHS: UK Registry for Central Hypoventilation Syndrome (CHS) - part of the European CHS Registry
University Hospital of North Staffordshire - Cheethams Children's Centre
UK Central Hypoventilation Syndrome Registry
ROYAUME-UNI
Tyne & Wear
WASHINGTON
INPDR : International Niemann-Pick Disease Registry
Niemann-Pick (UK)
INPDR Registry
ROYAUME-UNI
West Midlands
BIRMINGHAM
EIMD: European registry and network for intoxication type metabolic diseases - UK
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders
SUEDE
Region Skåne
LUND
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Stockholm
SOLNA
RMMS: Registry of Inherited Metabolic Diseases
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases
SUEDE
Region Stockholm
STOCKHOLM
Swedish neuroregisters - Registry of motor neuron disease
Kvalitetsregistercentrum Stockholm
Regional Registry Centre, Stockholm (QRC Stockholm)
SUEDE
Region Stockholm
STOCKHOLM
Swedish neuro registries -registry of parkesonian disorders
Kvalitetsregistercentrum Stockholm
Regional Registry Centre, Stockholm (QRC Stockholm)
SUISSE
Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Kardiologische Klinik - Spezial-Sprechstunden
SUISSE
Suisse Alémanique
BERN
Swiss Pediatric Inflammatory Bain Disease Cohort Study
Institute of Social and Preventive Medicine (ISPM)
Swiss-Ped-IBrainD
SUISSE
Suisse Romande
GENÈVE
Brain Health Registry Suisse BHR
Hôpitaux Universitaires de Genève HUG
Brain Health Registry Suisse BHR
ALLEMAGNE
Baden-Württemberg
ULM
Enroll-HD Registry
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks
ALLEMAGNE
Baden-Württemberg
ULM
Enroll-HD Biobank
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks
ALLEMAGNE
Bayern
MÜNCHEN
German PAM/MFM registry: Patient registry for hereditary protein aggregate myopathies (PAM) / myofibrillar myopathies (MFM)
Friedrich-Baur-Institut
PAM/MFM-Patientenregister
ALLEMAGNE
Bayern
MÜNCHEN
German CMT-patient registry germany
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALLEMAGNE
Nordrhein-Westfalen
BONN
EUROSCA-R: European patient registry on spinocerebellar ataxias
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALLEMAGNE
Nordrhein-Westfalen
BONN
European registry of sporadic degenerative ataxia with adult onset
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie
ALLEMAGNE
Nordrhein-Westfalen
DÜSSELDORF
Neuromyelitis optica patient registry
Universitätsklinikum Düsseldorf
Neuromyelitis optica Studiengruppe (NEMOS)
ALLEMAGNE
Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Geburtenregister Mainzer Modell
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
AUSTRALIE
New South Wales
WESTMEAD
RettBASE: RettSyndrome.org variation database
University of Sydney
Children's Hospital - Paediatrics and Child Health
AUSTRALIE
Victoria
MEKBOURNE
Myeloma and Related Diseases Registry (MRDR)
Monash University
Department of Epidemiology & Preventive Medicine
AUTRICHE
OBERÖSTERREICH
LINZ
Non-Interventional, web-based Registry for Histiocytic Disorders
Ordensklinikum Linz GmbH Elisabethinen
Interne 1 - Hämatologie mit Stammzelltransplantation, Hämostaseologie und medizinische Onkologie
BELGIQUE
ANTWERPEN
ANTWERPEN
Antwerp registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen
BELGIQUE
HAINAUT
GOSSELIES
Registre des anomalies congénitales du Hainaut et de Namur - contribution au réseau EUROCAT
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)
CANADA
Colombie-Britannique
VANCOUVER
Glomerulonephritis Registry
Centre for Health Evaluation and Outcome Sciences (CHEOS)
Department of Nephrology
ESPAGNE
Asturias
OVIEDO
REGMEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas/paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición
ESPAGNE
Cataluña
BARCELONA
Collection of samples of DNA repair syndromes integrated into the National Biobank of Rare Diseases (BioNER)
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Servicio de análisis de fragilidad cromosómica
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
RiTHHa: Computerized registry of patients with hemorrhagic hereditary telangiectasia
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Enfermedades Sistémicas, Vasculares y Envejecimiento
ESPAGNE
Comunidad Valenciana
VALENCIA
TREAT-CMT: Database of CMT mutations in Spanish population
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de investigación en enfermedades raras neurodegenerativas
ESPAGNE
Madrid
MADRID
RNEETH: Spanish patient registry of transmissible spongiform encephalopathies
Centro Nacional de Epidemiología (CNE)
Area de Epidemiología Aplicada
ESPAGNE
País Vasco
VITORIA-GASTEIZ
RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco. Departamento de Salud
Registro de anomalías congénitas del País Vasco
ETATS-UNIS
Virginia
CHARLOTTESVILLE
GNAO1 International Patient Registry
University of Virginia Health System
Department of Neurology
FINLANDE
Finland
HELSINKI
Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FRANCE
AUVERGNE-RHONE-ALPES
BRON
EDMUS - NOMADMUS: biobanque française de neuro-optico-myélite aiguë de Devic et des syndromes neurologiques apparentés
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec
FRANCE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
CEMC-Auvergne - Centre d'Etude des Malformations Congénitales en Auvergne - contribuant au réseau EUROCAT
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Cohorte Lyonnaise des Toxoplasmoses Maternelles et Congénitales
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse
Service de parasitologie et de mycologie médicale - Institut des Agents Infectieux
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Registre des anomalies congénitales de la région Rhône-Alpes (REMERA) - contribuant au réseau EUROCAT
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA
FRANCE
BRETAGNE
RENNES
Registre des anomalies congénitales de la région Bretagne - contribuant au réseau EUROCAT
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCE
BRETAGNE
RENNES
ReMaBreizh: Registre des malformations congénitales de Bretagne
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCE
CENTRE-VAL DE LOIRE
TOURS
NF-France: banque de données génotype/phénotype sur la neurofibromatose 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps
FRANCE
GRAND-EST
REIMS
CRB TOXOPLASMA: centre de ressources biologiques - Toxoplasma
UFR de Médecine de Reims IFR 53
Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)
FRANCE
GRAND-EST
STRASBOURG
Registre de mutations d'UMD CSA (ERCC8)
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCE
GRAND-EST
STRASBOURG
Registre de mutations d'UMD CSB (ERCC6)
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCE
ILE-DE-FRANCE
CRÉTEIL
NF-France: banque de données génotype/phénotype sur la neurofibromatose 1
Hôpitaux Universitaires Henri Mondor
Service de dermatologie
FRANCE
ILE-DE-FRANCE
PARIS
REMAPAR - Registre des anomalies congénitales de Paris - contribuant au réseau EUROCAT
APHP - HUPC - Site Cochin
Equipe EPOPé
FRANCE
ILE-DE-FRANCE
PARIS
SYRENE: syndrome de Rett network - base de données française clinico-génétiques sur le syndrome de Rett
Hôpital Necker-Enfants Malades
Service de Neurologie pédiatrique
FRANCE
OCCITANIE
TOULOUSE
RaDiCo-AC-OEIL: Cohorte nationale sur les anomalies congénitales de l'oeil : histoire naturelle, déterminismes génétiques et amélioration de la prise en charge des patients
CHU de Toulouse - Hôpital Purpan
Service de génétique médicale
FRANCE
OUTRE-MER
FORT DE FRANCE
Registre des anomalies congénitales des Antilles françaises - contribuant au réseau EUROCAT
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDPN)
FRANCE
OUTRE-MER
SAINT-PIERRE
Registre des anomalies congénitales de l'île de La Réunion - contribuant au réseau EUROCAT
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale
HONGRIE
Dél-Dunántúl
PECS
Huntington disease biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HONGRIE
Dél-Dunántúl
PECS
Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HONGRIE
Dél-Dunántúl
PECS
Rett syndrome biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HONGRIE
Dél-Dunántúl
PECS
Spinocerebellar ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HONGRIE
Dél-Dunántúl
PECS
Tuberous sclerosis biobank
Clinical Center - University of Pécs
Department of Medical Genetics
IRLANDE
County Cork
CORK
Cork and Kerry South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health
IRLANDE
County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)
IRLANDE
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
ITALIE
CAMPANIA
BENEVENTO
Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "San Pio" - P.O. "G. Rummo"
U.O.S.D. di Genetica Medica
ITALIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Registry of Neurofibromatosis
Institution: Information not provided - IT
ITALIE
LAZIO
ROMA
Italian registry of Creutzfeldt-Jakob disease and related syndromes
ISS - Istituto Superiore di Sanità
Dipartimento di Biologia Cellulare e Neuroscienze
ITALIE
LOMBARDIA
MILANO
SATURNE, Cardiovascular Research Biobank
Istituto di Ricerche Farmacologiche Mario Negri - IRCCS
Dipartimento di Danno Cerebrale e Cardiovascolare Acuto
ITALIE
LOMBARDIA
SAN GENESIO ED UNITI
IReg-PIK3CA Registry
Associazione Italiana Macrodattilia e PROS - APS
ITALIE
PIEMONTE
TORINO
IReg-PIK3CA Registry
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Unità di Genetica Clinica Pediatrica
ITALIE
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
ITALIE
TOSCANA
PISA
Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
ITALIE
TOSCANA
SIENA
Rett Syndrome Database
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
ITALIE
VENETO
PADOVA
North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica ed Epidemiologia Clinica
PAYS-BAS
Gelderland
NIJMEGEN
ERN [GENTURIS] - GENTURIS registry: The Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica
PAYS-BAS
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
PAYS-BAS
Zuid-Holland
LEIDEN
LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
POLOGNE
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
Centro Hospitalar Universitário de Santo António, EPE - CHUdSA, EPE/CMIN
Serviço de Neuropediatria - CHUdSA, EPE/CMIN
PORTUGAL
SUL
LISBOA
RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Doutor Ricardo Jorge - INSA- Lisboa
Departamento de Epidemiologia
ROYAUME-UNI
Tayside
EDINBURGH
Rett Syndrome Mutation Database: MeCP2 gene
MRC Centre for Regenerative Medicine
Institute for Stem Cell Research
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
Global FKRP registry (Global Fukutin-Related Protein defects registry)
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
Global FKRP registry (Global Fukutin-Related Protein defects registry)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
International GNE Myopathy Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
SUEDE
Region Blekinge
LUND
MMCUP: Quality Registry for MMC, other neuraltube defect and hydrocephalus
Registercentrum Syd
Regional Registry Centre, South Sweden
SUEDE
Region Skåne
LUND
MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
CD59base: Mutation registry for CD59 deficiency
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
TLR3base: Mutation registry for Influenza-associated encephalopathy
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Uppsala
UPPSALA
Swedish neuroregistries - narcolepsia registry
Akademiska Sjukhuset
Department of Medical Sciences
SUISSE
Suisse Alémanique
ZÜRICH
BH4: international mutation registry of tetrahydrobiopterin deficiency
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SUISSE
Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registre des malformations congénitales du canton de Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité
ALLEMAGNE
Baden-Württemberg
FREIBURG
National registry for Blackfan-Diamond disease
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
Rare anaemia Registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
ALLEMAGNE
Bayern
MÜNCHEN
German DMD- and SMA-patient registry : Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALLEMAGNE
Hessen
FRANKFURT AM MAIN
Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
ALLEMAGNE
Hessen
MARBURG
German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie
ALLEMAGNE
Niedersachsen
HANNOVER
German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
ALLEMAGNE
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
ALLEMAGNE
Nordrhein-Westfalen
MÜNSTER
NEOCYST patient registry for childhood cystic kidney disease
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche
ALLEMAGNE
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
NSEuroNet database: Online mutation registry for RASopathy genes
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
AUSTRALIE
Victoria
PARKVILLE
Australian Neuromuscular Disease Registry (ANMDR)
Murdoch Children's Research Institute
Australian Neuromuscular Disease Registry
AUTRICHE
SALZBURG
SALZBURG
European SYNGAP1 Registry
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Universitätsklinik für Kinder- und Jugendheilkunde
AUTRICHE
STEIERMARK
GRAZ
Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Registre belge des patients atteints de drépanocytose et d'anémies rares (BR-ScRa)
Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF
Service d'hémato-oncologie, d'immunologie et de rhumatologie pédiatrique
BELGIQUE
OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - BE - Flanders contribution (Ghent university hospital)
Universitair ziekenhuis Gent (UZ Gent)
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent
BULGARIE
South-West region
SOFIA
Bulgarian Patient registry for neuromuscular diseases
University Hospital Alexandrovska
Clinic of neurology
CROATIE
CROATIA
ZAGREB
Croatian NMD Registry for Pediatrics
University Hospital Centre Zagreb
Department of Child Neurology
DANEMARK
Jylland
ARHUS C
Danish registry for neuromuscular diseases
National Danish Rehabilitation Centre for Neuromuscular Diseases
ESPAGNE
Asturias
OVIEDO
RenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Área de Gestión Clínica de Pediatría
ESPAGNE
Cataluña
BARCELONA
Spanish patient registry for spinal muscular atrophy
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAGNE
Cataluña
BARCELONA
Spanish registry of Duchenne muscular dystrophy
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAGNE
Cataluña
BARCELONA
EUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de patología neuromuscular y mitocondrial
ESPAGNE
Comunidad Valenciana
VALENCIA
Spanish registry of Duchenne muscular dystrophy
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de Biomedicina molecular, celular y genómica
ESPAGNE
Galicia
VIGO
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes -ES
Universidade de Vigo
Departamento de Bioquímica, Genética e Inmunología
ESPAGNE
Madrid
MADRID
Registry of xeroderma pigmentoso of the Spanish Academy of Dermatology and Venereology (AEDV) integrated in the Rare Diseases Patient Registry ISCIII (RePER)
Academia Española de Dermatología y Venereología
ESPAGNE
Madrid
MADRID
Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético
ESPAGNE
Madrid
MADRID
GenRaRe: Low prevalence and genetic diseases registry
Consorcio Centro de Investigación Biomédica en Red M.P.
Registro de Enfermedades Genéticas y de baja prevalencia
ESPAGNE
Madrid
MADRID
Spanish patient registry for spinal muscular atrophy
FundAME
Fundación Atrofia Muscular Espinal
ESPAGNE
Madrid
MADRID
Registry of xeroderma pigmentoso of the Spanish Academy of Dermatology and Venereology (AEDV) integrated in the Rare Diseases Patient Registry ISCIII (RePER)
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
ESPAGNE
Madrid
MADRID
MYO-SPAIN Platform: Patient registry on idiopathic inflammatory myopathy in Spain
Sociedad Española de Reumatología
ETATS-UNIS
Kansas
OLATHE
ETATS-UNIS
New York
NEW YORK
IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance
FRANCE
GRAND-EST
STRASBOURG
Registre de mutations du syndrome de Coffin-Lowry
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCE
GRAND-EST
STRASBOURG
RaDiCo-COBBALT: Cohorte nationale sur les syndromes de Bardet-Bield et Alström
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
FRANCE
GRAND-EST
STRASBOURG
RaDiCo-RETICO: Cohorte nationale sur les dystrophies héréditaires de la rétine
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Registre de mutations d'UMD ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8)
Institution: Information not provided - FR
FRANCE
ILE-DE-FRANCE
GARCHES
Registre SMN1-France
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Consultation Maladies Neuro Musculaires
FRANCE
ILE-DE-FRANCE
PARIS
Registre de mutations d'UMD DMD (Dystrophin)
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Système et d'Organe
FRANCE
ILE-DE-FRANCE
PARIS
Registre français auto-immunité et Rituximab (AIR): évaluation prospective de patients traités par rituximab pour certaines maladies auto-immunes
AP-HP.Centre - Université de Paris - Hôpital Cochin
Unité fonctionnelle de Médecine interne et centre de référence maladies rares
FRANCE
ILE-DE-FRANCE
PARIS
RaDiCo-PP: Cohorte nationale pour l'étude clinique, génétique et socio-économique des paralysies périodiques
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Unité Neurogénétique et métabolisme
FRANCE
ILE-DE-FRANCE
PARIS
Assemblage d'une cohorte française dans les rétinopathies pigmentaires
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes
FRANCE
ILE-DE-FRANCE
PARIS
OPALE: Un registre des patients atteints de laminopathies et emerinopathies en France
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"
FRANCE
OCCITANIE
MONTPELLIER
Registre de mutations d'UMD DMD (Dystrophin)
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Registre français des maladies rares des syndromes de Wolfram, Alström, Bardet Biedl et des autres Syndromes Diabète Rares - contribue à EURO-WABB
CHU de Nice - Hôpital l'Archet 2
Service de génétique
HONGRIE
Dél-Dunántúl
PECS
Epilepsy biobank
Clinical Center - University of Pécs
Department of Medical Genetics
HONGRIE
Közép-Magyarország
BUDAPEST
The Hungarian patient registries for Spinal Muscular Atrophy
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics
IRLANDE
County Dublin
DUBLIN
Irish Dystonia DNA Biobank
St. Vincent's University Hospital
Department of Neurology
ITALIE
CAMPANIA
NAPOLI
RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
Laboratorio di Genetica Medica
ITALIE
LAZIO
ROMA
RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALIE
LAZIO
ROMA
V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALIE
LOMBARDIA
MILANO
Neuromuscular Disease Biobank
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
U.O. Neurologia IV - Malattie Neuromuscolari e Neuroimmunologia
ITALIE
LOMBARDIA
MILANO
RAM-NET: Italian registry of patients with neuromuscular diseases
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche
ITALIE
PIEMONTE
NOVARA
BIODEF-International Database of tetrahydrobiopterin Deficiencies
Università degli Studi del Piemonte Orientale
Laboratorio di Patologia Genetica
ITALIE
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
ITALIE
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
ITALIE
VENETO
PADOVA
Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB
Azienda Ospedaliera di Padova
Laboratorio Endocrino Metabolico - Clinica Medica 3
ITALIE
VENETO
VERONA
RI-SDS: Italian Registry of Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica
PAYS-BAS
Gelderland
NIJMEGEN
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
PAYS-BAS
Groningen
GRONINGEN
L1CAM Mutation Database
UMCG - Universitair Medisch Centrum Groningen
Laboratorium DNA Diagnostiek
PAYS-BAS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PAYS-BAS
Zuid-Holland
ROTTERDAM
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Oogheelkunde
PAYS-BAS
Zuid-Holland
ROTTERDAM
Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC
POLOGNE
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics
POLOGNE
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Departament of Pediatrics, Oncology, Hematology and Diabetology
ROYAUME-UNI
Cambridgeshire
HINXTON
UK10K_RARE_SIR - The Severe Insulin Resistance (SIR) variant database
Wellcome Trust Sanger Institute
UK10K - Rare Genetic Variants in Health and Disease
ROYAUME-UNI
Greater London
LONDON
North Star database : National database for Duchenne muscular dystrophy
GOSH NHS Foundatin Trust
Dubowitz Neuromuscular Centre
ROYAUME-UNI
Greater Manchester
SALFORD
EuroMyositis registry
Hope Hospital, University of Manchester
The University of Manchester Rheumatic Diseases Centre
ROYAUME-UNI
Oxfordshire
OXFORD
UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine
ROYAUME-UNI
Surrey
SUTTON
FCLL - A Genetic Study of Chronic Lymphocytic Leukaemia and Other Lymphoproliferative Disease
The Institute of Cancer Research
Section of Epidemiology
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
UK SMA Patient Registry
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
UK SMA Patient Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
SUEDE
Region Skåne
LUND
BLMbase: Mutation registry for Bloom Syndrome
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
DNMT3Bbase: Mutation registry for ICF syndrome
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
LIG4base: Mutation registry for LIG4 syndrome
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
NPbase: Mutation registry for PNP deficiency
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Västerbotten
UMEÅ
SveATTR: Swedish Registry for Familial Amyloid Polyneuropathy
Norrlands Universitetssjukhus
Regional Registry Centre, North Sweden
SUISSE
Suisse Alémanique
BASEL
Swiss Registry for Neuromuscular Disorders
Universitäts-Kinderspital beider Basel UKBB
Die Abteilung für Neuro- und Entwicklungspädiatrie
SUISSE
Suisse Alémanique
BERN
Swiss Registry for Neuromuscular Disorders
Institute of Social and Preventive Medicine (ISPM)
SUISSE
Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)
TCHEQUE, REPUBLIQUE
Capital City Prague
PRAGUE 1
National Registry of Congenital Anomalies of the Czech Republic
Charles University in Prague
Institute of Biology and Medical Genetics
TCHEQUE, REPUBLIQUE
South Moravia
BRNO
REaDY Registry: Registry of muscular dystrophies
University hospital Brno
Institute of Biostatistics and Analyses
TURQUIE
TURKEY
ANKARA
Turkish NMD Registry - KUKAS
Hacettepe University Faculty of Medicine
Department of physical therapy and rehabilitation
UKRAINE
UKRAINE
KHARKIV
Spinal muscular atrophy patient registry in Ukraine
Academy of medical science of Ukraine
Institute of Neurology, Psychiatry and Narcology
ALLEMAGNE
Bayern
MÜNCHEN
German IBM registry: Patient registry for aquired or sporadic inclusion body myositis
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALLEMAGNE
Bayern
MÜNCHEN
German DM registry: Patient registry for myotonic dystrophy (DM)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
AUSTRALIE
Western Australia
CRAWLEY
Nemaline myopathy variant database
University of Western Australia and Western
Centre for MedicalResearch
CANADA
Ontario
TORONTO
The Lafora progressive myoclonus epilepsy mutation and polymorphism database
The Centre for Applied Genomics
FRANCE
BRETAGNE
RENNES
Collection biologique française des rhombencéphalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique
FRANCE
ILE-DE-FRANCE
CRÉTEIL
DM Scope: Registre français des patients atteints de dystrophie myoclonique
Hôpitaux Universitaires Henri Mondor
Service de neurologie
FRANCE
ILE-DE-FRANCE
PARIS
UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCE
ILE-DE-FRANCE
PARIS
UMD EMD (Emerin) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCE
ILE-DE-FRANCE
PARIS
iDM-scope: registre international franco-québécois de la dystrophie myotonique
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
ITALIE
LAZIO
ROMA
Italian registry for muscular dystrophies and myopathies
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. Neuropsichiatria Infantile
ITALIE
LAZIO
ROMA
INMI Biobank
Istituto Nazionale per le Malattie Infettive "Lazzaro Spallanzani"
U.O.C. Microbiologia e Banca Biologica
ITALIE
LOMBARDIA
MILANO
INNCB MG Registry
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
U.O. Neurologia IV - Malattie Neuromuscolari e Neuroimmunologia
ITALIE
LOMBARDIA
SAN DONATO MILANESE
Italian registry of myotonic dystrophies
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
ROYAUME-UNI
Greater London
LONDON
Juvenile Dermatomyositis Cohort Biomarker Study and Repository
GOSH NHS Foundatin Trust
Rheumatology Unit
ROYAUME-UNI
Greater London
LONDON
Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Institute of Child Health
Juvenile Dermatomyositis Cohort Biomarker Study & Repository
ROYAUME-UNI
Greater London
LONDON
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
ROYAUME-UNI
Merseyside
LIVERPOOL
Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Alder Hey Children's Hospital
Department of Rheumatology
ROYAUME-UNI
South Glamorgan
CARDIFF
UK Myotonic Dystrophy Patient Registry
University Hospital of Wales
Institute of Medical Genetics
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
UK Myotonic Dystrophy Patient Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
SUEDE
Region Skåne
LUND
MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)
Lunds Universitet
Department of Experimental Medical Science
SUEDE
Region Skåne
LUND
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
Lunds Universitet
Department of Experimental Medical Science
TCHEQUE, REPUBLIQUE
South Moravia
BRNO
MyReg : Myasthenia Gravis Registry
Masaryk University
Department of Neurology
ALLEMAGNE
Bayern
MÜNCHEN
German FSHD registry: Patient registry for Facioscapulohumeral dystrophy (FSHD)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
ALLEMAGNE
Hessen
FRANKFURT AM MAIN
KiRaFe: ChildrenRegister for Congenital Malformations
Universitätsklinikum Frankfurt
KiRaFe Studienleitung
ESPAGNE
Cataluña
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad
FRANCE
ILE-DE-FRANCE
PARIS
Le registre Dystrophinopathies
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Système et d'Organe
FRANCE
ILE-DE-FRANCE
PARIS
Le registre Dystrophinopathies
Hôpital Necker-Enfants Malades
Service de Neurologie pédiatrique
FRANCE
OCCITANIE
MONTPELLIER
Le registre Dystrophinopathies
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCE
PAYS DE LA LOIRE
ANGERS
eOPA1: registre de mutations d'OPA1 (Optic atrophy 1)
CHU d'Angers
Laboratoire de Biochimie et Biologie Moléculaire
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
UMD-DYSF, une base de données "locus-spécifique" pour la compilation et l'analyse interactive des mutations dans le gène de la dysferline.
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Observatoire National Français des patients atteints de Dystrophie Musculaire Facio-Scapulo-Humérale
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251
HONGRIE
Közép-Magyarország
BUDAPEST
The Hungarian patient registries for Duchenne Muscular Dystrophy
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics
ISRAEL
ISRAEL
TEL HASHOMER
Natural History of Oculo-Pharyngeal Muscular Dystrophy (OPMD) - Israel National OPMD Registry
Sheba Medical Center
Neuro-muscular diseases clinic, Department of Neurology
ITALIE
EMILIA ROMAGNA
MODENA
Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy)
Università degli Studi di Modena e Reggio Emilia
Miogen
ITALIE
LOMBARDIA
MILANO
Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche
PAYS-BAS
Gelderland
NIJMEGEN
FSHD registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie
PAYS-BAS
Zuid-Holland
LEIDEN
Duchenne and Becker muscular dystrophy patient registry in the Netherlands
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
ROYAUME-UNI
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
ROYAUME-UNI
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
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
UK facioscapulohumeral muscular dystrophy patient registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
ALLEMAGNE
Hamburg
HAMBURG
Pompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
FRANCE
AUVERGNE-RHONE-ALPES
BRON
Registre français labellisé de la maladie de pompe
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCE
ILE-DE-FRANCE
PARIS
Registre français labellisé de la maladie de pompe
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
SUEDE
Region Skåne
LUND
TAZbase: Mutation registry for Barth syndrome
Lunds Universitet
Department of Experimental Medical Science
SUISSE
Suisse Alémanique
BERN
Swiss Pompe Registry
Inselspital Universitätsspital
Adultes Referenzzentrum für Neuromuskuläre Erkrankungen
SUISSE
Suisse Alémanique
BERN