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Funded by an IRDiRC member =

Registries and Biobanks

ITALY

LOMBARDIA
MILANO

Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to european Treat-NMD network
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

FRANCE

ILE-DE-FRANCE
PARIS

Registre de mutations d'UMD LMNA (Lamin A/C)
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Centre de Recherche en Myologie

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

UMD-DYSF, a locus-specific database for the compilation and interactive analysis of mutations in the Dysferlin gene.
Université de médecine Aix-Marseille Université
Centre de Génétique Médicale de Marseille - INSERM UMR S910

GERMANY

Bayern
MÜNCHEN

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

ITALY

CAMPANIA
NAPOLI

Naples Human Mutation Gene Biobank
AOU Seconda Universitŕ degli Studi di Napoli - Centro storico
Servizio di Cardiomiologia e Genetica Medica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: ANO5 gene (anoctamin 5) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: CAPN3 gene (calpain-3) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: CAV3 gene (caveolin-3) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: DYSF gene (dysferlin) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: FKRP gene (fukutin-related protein) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: FKTN gene (fukutin) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: LMNA gene (lamin A/C) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: MYOT gene (myotilin) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: POMT1 gene (protein O-mannosyltransferase 1) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: SGCA gene (sarcoglycan-alpha) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: SGCB gene (sarcoglycan-beta) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: SGCD gene (sarcoglycan-delta) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: SGCG gene (sarcoglycan-gamma) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: TCAP gene (titin-cap) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: TRIM32 gene (tripartite motif-containing 32) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: TTN gene (titin) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: MYOT gene (Myotilin (Titin immunoglobulin domain)) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-LMD: PLEC gene (Plectin) variant database
LUMC - Leids Universitair Medisch Centrum
Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

SPAIN

Cataluńa
BARCELONA

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

UNITED KINGDOM

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

UNITED KINGDOM

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
Institute of Genetic Medicine

UNITED STATES

Georgia
ATLANTA

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian Neuromuscular Disease Registry
Scientific Institute of Public Health WIV/ISP
Epidemiology - Rare Diseases

HUNGARY

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

UNITED KINGDOM

Greater London
LONDON

UK10K RARE NEUROMUSCULAR - Genetic neuromuscular diseases variant database
UCL Institute of Child Health, University College London
Dubowitz Neuromuscular Centre

CANADA

Alberta
CALGARY

Canadian Neuromuscular Disease Registry - part of the TREAT-NMD network
University of Calgary Health Science Centre
Department of Clinical Neurosciences

CYPRUS

Cyprus
NICOSIA

FRANCE

ILE-DE-FRANCE
GARCHES

French registry of neuromuscular diseases from reference centres
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Centre de Référence Maladies Neuromusculaires

FRANCE

ILE-DE-FRANCE
PARIS

French registry of neuromuscular diseases from reference centres
CHU Paris - Hôpital Necker-Enfants Malades
Consultation Myopathie

GERMANY

Nordrhein-Westfalen
AACHEN

Brain-net - brain tissue bank Aachen
Universitätsklinikum Aachen
Institut für Neuropathologie

ITALY

VENETO
PADOVA

Neuromuscular Tissue Bank (NMTB) (EuroBioBank partner)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory

NETHERLANDS

Gelderland
NIJMEGEN

Dutch Neuromuscular Database CRAMP: Computer Registry of All Myopathies and Polyneuropathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

SLOVENIA

SLOVENIA
LJUBLJANA

Human tissue biobank of Neuromuscular diseases (EuroBioBank partner)
University Medical Center Ljubljana
Institute of Anatomy

AUSTRIA

TIROL
INNSBRUCK

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

DENMARK

Sjćlland
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 center
Tartu University Hospital
Centre of Genetics - United laboratories

GERMANY

Niedersachsen
GÖTTINGEN

ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK

GERMANY

Nordrhein-Westfalen
MÜNSTER

Brain-Net - brain tissue bank Munster (pediatric neuropathology)
Institut für Neuropathologie der Medizinischen Fakultät Münster
Institut für Neuropathologie

ITALY

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

Funded by an IRDiRC memberKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

MOROCCO

Rabat
RABAT

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

SPAIN

Comunidad Valenciana
VALENCIA

SPAIN

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

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

Networks of registries and biobanks

SPAIN

Cataluńa
BARCELONA

NMD-ES: Spanish Registry of Neuromuscular Diseases
  • Hospital de la Santa Creu i Sant Pau
  • Servicio de Neurología
  • UNITED KINGDOM

    Tyne & Wear
    NEWCASTLE UPON TYNE

    Funded by an IRDiRC memberTREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (registries)
  • Newcastle upon Tyne Hospitals NHS Trust
  • Institute of Genetic Medicine
  • GERMANY

    Bayern
    MÜNCHEN

    Brain-Net Germany : National network of brain banks in Germany
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • ITALY

    LIGURIA
    GENOVA

    TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche