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Registri and biobanche

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

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

UNGHERIA

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

GRECIA

ATTIKI
ATHENS

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

AUSTRIA

TIROL
INNSBRUCK

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

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

Finanziato da un ente associato a IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

CROAZIA

CROATIA
ZAGREB

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

DANIMARCA

Sjælland
COPENHAGEN

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

ESTONIA

Tartu
TARTU

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

FINLANDIA

Finland
TURKU

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)

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCLaminopathies and emerinopathies patient registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"

FRANCIA

ILE-DE-FRANCE
PARIS

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

FRANCIA

NORMANDIE
ROUEN

UMD-SMN1 France
CHU de Rouen
Laboratoire de génétique moléculaire

GERMANIA

Nordrhein-Westfalen
MÜNSTER

ITALIA

CAMPANIA
NAPOLI

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

ITALIA

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

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCRete delle biobanche genetiche Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

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

MAROCCO

Rabat
RABAT

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

NORVEGIA

Østlandet
OSLO

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

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

REGNO UNITO; GRAN BRETAGNA

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

REPUBBLICA CECA

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

SPAGNA

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

SPAGNA

Aragón
ZARAGOZA

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

SPAGNA

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

SPAGNA

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

SPAGNA

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

SPAGNA

Cataluña
BARCELONA

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

SPAGNA

Cataluña
BARCELONA

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

SPAGNA

Cataluña
BARCELONA

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

SPAGNA

Cataluña
BARCELONA

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

SPAGNA

Comunidad Valenciana
VALENCIA

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

SPAGNA

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

SPAGNA

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

SPAGNA

Extremadura
MÉRIDA

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

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

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

SPAGNA

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

SPAGNA

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

SPAGNA

Madrid
MADRID

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

SPAGNA

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

SPAGNA

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

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

SVIZZERA

Suisse Alémanique
BASEL

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

SVIZZERA

Suisse Alémanique
BERN

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

TURCHIA

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

UCRAINA

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

UNGHERIA

Közép-Magyarország
BUDAPEST

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

AUSTRALIA

Western Australia
CRAWLEY

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

BELGIO

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]

DANIMARCA

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)

FRANCIA

ILE-DE-FRANCE
CRÉTEIL

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 LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCIA

ILE-DE-FRANCE
PARIS

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

FRANCIA

OCCITANIE
MONTPELLIER

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

GERMANIA

Bayern
MÜNCHEN

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

GERMANIA

Bayern
MÜNCHEN

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

ITALIA

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

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCRegistro 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

ITALIA

LIGURIA
GENOVA

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

ITALIA

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

ITALIA

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

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCBiobanca 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

ITALIA

LOMBARDIA
PAVIA

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

ITALIA

LOMBARDIA
SAN DONATO MILANESE

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

REGNO UNITO; GRAN BRETAGNA

Essex
LONDON

North Star database
Great Ormond Street Hospital
Dubowitz Neuromuscular Centre

REGNO UNITO; GRAN BRETAGNA

South Glamorgan
CARDIFF

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

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

The Global Registry for COL6-related dystrophies
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

SPAGNA

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

SPAGNA

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

STATI UNITI

Georgia
ATLANTA

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

STATI UNITI

Washington
SEATTLE

AUSTRALIA

New South Wales
MARRICKVILLE

DuchenneConnect Australia patient registry
Save Our Sons Duchenne Foundation

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

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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCFrench National FSHD Registry
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

GERMANIA

Bayern
MÜNCHEN

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

GERMANIA

Bayern
MÜNCHEN

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

ITALIA

EMILIA ROMAGNA
MODENA

ITALIA

LAZIO
ROMA

Registro Pazienti DMD/BMD Italia
Parent Project - ONLUS

ITALIA

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

PAESI BASSI

Gelderland
NIJMEGEN

FSHD registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

PAESI BASSI

Limburg
MAASTRICHT

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

PAESI BASSI

Limburg
MAASTRICHT

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

PAESI BASSI

Zuid-Holland
LEIDEN

PAESI BASSI

Zuid-Holland
ROTTERDAM

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

PORTOGALLO

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

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

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

REPUBBLICA CECA

South Moravia
BRNO

SPAGNA

Cataluña
BARCELONA

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

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

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

UNGHERIA

Közép-Magyarország
BUDAPEST

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

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

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCPompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

PAESI BASSI

Noord-Holland
NAARDEN

The intenational Pompe registry
Genzyme Europe B.V.

PORTOGALLO

NORTE
PORTO

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

SPAGNA

Cataluña
BARCELONA

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

SPAGNA

Cataluña
BARCELONA

Finanziato da un ente associato a IRDiRCEUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

SPAGNA

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

SPAGNA

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

SVEZIA

Region Skåne
LUND

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

SVIZZERA

Suisse Alémanique
BERN

Finanziato da un ente associato a IRDiRCSwiss Pompe Registry
Inselspital Universitätsspital
Centre for Neuromuscular Diseases

Network di registri and biobanche

ITALIA

LIGURIA
GENOVA

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

    Madrid
    MADRID

    SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
  • ISCIII - Instituto de Salud Carlos III
  • Instituto de Investigación de Enfermedades Raras