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Registri and biobanche

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Belgian Neuromuscular Diseases Registry (BNMDR)
Sciensano
Health Services Research - Rare Diseases

Greater London
LONDON
UK10K RARE NEUROMUSCULAR - Genetic neuromuscular diseases variant database
GOSH NHS Foundatin Trust
Dubowitz Neuromuscular Centre

Közép-Magyarország
BUDAPEST
DNA biobank of the Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health (NIEH) (EuroBioBank partner)
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics

ATTIKI
ATHENS
PATIENT REGISTRY AND DNA BIOBANK ON NEUROGENETIC DISORDERS
University of Athens - Medical school
Neurogenetics Unit

TIROL
INNSBRUCK
Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

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

KOREA, REPUBLIC OF
SEOUL
Korean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

CROATIA
ZAGREB
Registry for neuromuscular disease
University Hospital Centre Zagreb
Department of Child Neurology

Sjælland
COPENHAGEN
Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

Tartu
TARTU
Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

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)

ILE-DE-FRANCE
PARIS
Laminopathies and emerinopathies patient registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"

ILE-DE-FRANCE
PARIS
Motor Function Measure database (Neuromuscular Diseases)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

Bayern
MÜNCHEN
German PAM/MFM registry: Patient registry for hereditary protein aggregate myopathies (PAM) / myofibrillar myopathies (MFM)
Friedrich-Baur-Institut
PAM/MFM-Patientenregister

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

Nordrhein-Westfalen
MÜNSTER
Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases
Universitätsklinikum Münster
Herz-MRT-Zentrum

CAMPANIA
NAPOLI
Biobanca genetica di mutazioni umane Napoli
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica

LAZIO
ROMA
Registro italiano della Distrofia Muscolare di Duchenne e Becker e Distrofia Muscolare Spinale - afferisce al netwok TREAT-NMD
Parent Project aps

LIGURIA
GENOVA
Biobanca di linee cellulari e di DNA da pazienti affetti da malattie genetiche
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

LIGURIA
GENOVA
Rete delle biobanche genetiche Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

LOMBARDIA
MILANO
RAM-NET: Registro italiano dei pazienti affetti da malattie neuromuscolari - afferisce al network europeo Treat-NMD
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

Rabat
RABAT
Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale

Østlandet
OSLO
Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser

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

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

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

Andalucía
SEVILLA
Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento

Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

Baleares
PALMA DE MALLORCA
Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología

Baleares
PALMA DE MALLORCA
Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo

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

Cataluña
BARCELONA
Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

Cataluña
BARCELONA
NMD-ES: Myopathies and Muscular Dystrophies Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

Cataluña
BARCELONA
NMD-ES: Congenital Myasthenic Syndrome Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

Cataluña
BARCELONA
NMD-ES: Myopathies due to collagen deficiency VI Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

Comunidad Valenciana
VALENCIA
SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

Comunidad Valenciana
VALENCIA
CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

Comunidad Valenciana
VALENCIA
CIBERER Biobank (Biobank of rare diseases)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología

Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial

Madrid
MADRID
SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud

Madrid
MADRID
BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

Madrid
MADRID
ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

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

Navarra
PAMPLONA
Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles

País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

Suisse Alémanique
BASEL
Swiss Registry for Neuromuscular Disorders
Universitäts-Kinderspital beider Basel UKBB
Die Abteilung für Neuro- und Entwicklungspädiatrie

Suisse Alémanique
BERN
Swiss Registry for Neuromuscular Disorders
Institute of Social and Preventive Medicine (ISPM)

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

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

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

Közép-Magyarország
BUDAPEST
SMA registry Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics

Western Australia
CRAWLEY
Nemaline myopathy variant database
University of Western Australia and Western
Centre for MedicalResearch

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]

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)

ILE-DE-FRANCE
CRÉTEIL
DM Scope: Myotonic dystrophy patient registry in France - part of the TREAT-NMD network
CHU Henri Mondor
Service de neurologie

ILE-DE-FRANCE
PARIS
UMD DMD (Dystrophin) mutations database
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

ILE-DE-FRANCE
PARIS
UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

ILE-DE-FRANCE
PARIS
UMD EMD (Emerin) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

OCCITANIE
MONTPELLIER
UMD DMD (Dystrophin) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

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

Bayern
MÜNCHEN
MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

Bayern
MÜNCHEN
German DM registry: Patient registry for myotonic dystrophy (DM)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister

CAMPANIA
NAPOLI
Biobanca per la ricerca e diagnosi sulle patologie neuromuscolari (NHMGB) (EuroBioBank partner)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica

LAZIO
ROMA
Registro Telethon-UILDM per le CMD (Distrofie Muscolari Congenite) - afferisce al network europeo Treat-NMD
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. Neuropsichiatria Infantile

LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

LOMBARDIA
MILANO
Banca di DNA linee cellulari e tessuto muscolare cardiaco e nervoso (EuroBioBank partner)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
U.O. Malattie Neuromuscolari

LOMBARDIA
MILANO
Biobanca di DNA di pazienti affetti da disordini del movimento (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

LOMBARDIA
MILANO
Biobanca di cellule tessuti e DNA di pazienti affetti da patologie neuromuscolari
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Laboratorio di Biologia della Cellula Muscolare

LOMBARDIA
PAVIA
Database "Connessione genica per il cuore: Registro di mutazioni"
Istituti Clinici Scientifici Maugeri
Servizio di Cardiologia Molecolare

LOMBARDIA
SAN DONATO MILANESE
Registro italiano delle distrofie miotoniche
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari

Essex
LONDON
North Star database
Great Ormond Street Hospital
Dubowitz Neuromuscular Centre

South Glamorgan
CARDIFF
Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network
University Hospital of Wales
Institute of Medical Genetics

Tyne & Wear
NEWCASTLE UPON TYNE
The Global Registry for COL6-related dystrophies
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine

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

Cataluña
BARCELONA
Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

Comunidad Valenciana
VALENCIA
Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

Georgia
ATLANTA
CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center

Kansas
OLATHE

New South Wales
MARRICKVILLE
DuchenneConnect Australia patient registry
Save Our Sons Duchenne Foundation

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

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

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

Bayern
MÜNCHEN
German FKRP-patient registry - part of the TREAT-NMD network
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister

Bayern
MÜNCHEN
German FSHD registry: Patient registry for Facioscapulohumeral dystrophy (FSHD)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister

EMILIA ROMAGNA
MODENA
Registro Telethon-UILDM per la FSHD (Distrofia facio-scapolo-omerale) - afferisce al network europeo Treat-NMD
Università degli Studi di Modena e Reggio Emilia
Miogen

LOMBARDIA
MILANO
Registro Telethon-UILDM per la LGMD (Distrofia dei Cingoli) - afferisce al network europeo Treat-NMD
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

Gelderland
NIJMEGEN
FSHD registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Neurologie

Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht

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

Zuid-Holland
ROTTERDAM
Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC

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

Greater London
LONDON
UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the TREAT-NMD network)
Action Duchenne

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

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

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

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

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

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

Cataluña
BARCELONA
NMD-ES: Mitochondrial Diseases Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

Cataluña
ESPLUGUES DE LLOBREGAT
NMD-ES: Mitochondrial Diseases Registry
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas

Közép-Magyarország
BUDAPEST
DMD registry - Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics

ILE-DE-FRANCE
PARIS
French certified registry of glycogen storage disease type 2
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

Hamburg
HAMBURG
Pompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

NORTE
PORTO
MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

Cataluña
BARCELONA
NMD-ES: Pompe Disease Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

Cataluña
BARCELONA
EUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

Madrid
MADRID
Spanish registry of patients with McArdle disease
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

Madrid
VILLAVICIOSA DE ODÓN
Spanish registry of patients with McArdle disease
Universidad Europea de Madrid. Facultad de Ciencias de la Salud
Laboratorio de Fisiología del Ejercicio

Region Skåne
LUND
TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

Suisse Alémanique
BERN
Swiss Pompe Registry
Inselspital Universitätsspital
Centre for Neuromuscular Diseases
Network di registri and biobanche

LIGURIA
GENOVA
Network di Biobanche Genetiche di Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

Madrid
MADRID