Suche Register/Biobank
Weitere Suchoptionen
120 Ergebnis(se)
Förderung durch ein IRDiRC-Mitglied = 
ERN-Mitglied = 
Register und Biobanken
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Belgian Neuromuscular Diseases Registry (BNMDR)
Sciensano
Health Services Research - Rare Diseases
UNGARN
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
VEREINIGTES KONIGREICH
Greater London
LONDON
UK10K RARE NEUROMUSCULAR - Genetic neuromuscular diseases variant database
GOSH NHS Foundatin Trust
Dubowitz Neuromuscular Centre
GRIECHENLAND
ATTIKI
ATHENS
PATIENT REGISTRY AND DNA BIOBANK ON NEUROGENETIC DISORDERS
University of Athens - Medical school
Neurogenetics Unit
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases
BULGARIEN
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
DANEMARK
Sjælland
COPENHAGEN
Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine
DEUTSCHLAND
Bayern
MÜNCHEN
Deutsches PAM/MFM-Register: Patientenregister für Patienten mit erblichen Protein-Aggregations-Myopathien (PAM) bzw. Myofibrillären Myopathien (MFM)
Friedrich-Baur-Institut
PAM/MFM-Patientenregister
DEUTSCHLAND
Bayern
MÜNCHEN
Deutsches DMD- und SMA-Patientenregister : Register für Patienten in Deutschland und Österreich mit Spinaler Muskelatrophie, Muskeldystrophie Duchenne oder Muskeldystrophie Becker-Kiener - Eingebunden in das TREAT-NMD Netzwerk
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
DEUTSCHLAND
Nordrhein-Westfalen
MÜNSTER
Neuro-Herz-Register: Register für Patienten mit Herzbeteiligungen bei neuromuskulären Erkrankungen
Universitätsklinikum Münster
Herz-MRT-Zentrum
ESTLAND
Tartu
TARTU
Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre
FRANKREICH
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)
FRANKREICH
ILE-DE-FRANCE
PARIS
Laminopathies and emerinopathies patient registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"
FRANKREICH
ILE-DE-FRANCE
PARIS
Motor Function Measure database (Neuromuscular Diseases)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
ITALIEN
CAMPANIA
NAPOLI
Naples Human Mutation Gene Biobank
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica
ITALIEN
LAZIO
ROMA
Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network
Parent Project aps
ITALIEN
LIGURIA
GENOVA
Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
ITALIEN
LIGURIA
GENOVA
Telethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
ITALIEN
LOMBARDIA
MILANO
RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to Treat-NMD european network
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche
KROATIEN
CROATIA
ZAGREB
Registry for neuromuscular disease
University Hospital Centre Zagreb
Department of Child Neurology
MAROKKO
Rabat
RABAT
Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale
NORWEGEN
Østlandet
OSLO
Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser
OSTERREICH
TIROL
INNSBRUCK
Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck
POLEN
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
REPUBLIK KOREA
KOREA, REPUBLIC OF
SEOUL
Korean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory
SCHWEIZ
Suisse Alémanique
BASEL
Schweizer Register für neuromuskuläre Erkrankungen
Universitäts-Kinderspital beider Basel UKBB
Die Abteilung für Neuro- und Entwicklungspädiatrie
SCHWEIZ
Suisse Alémanique
BERN
Schweizer Register für neuromuskuläre Erkrankungen
Institute of Social and Preventive Medicine (ISPM)
SPANIEN
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
SPANIEN
Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria
SPANIEN
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
SPANIEN
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
SPANIEN
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
SPANIEN
Cataluña
BARCELONA
Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPANIEN
Cataluña
BARCELONA
NMD-ES: Myopathies and Muscular Dystrophies Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
SPANIEN
Cataluña
BARCELONA
NMD-ES: Congenital Myasthenic Syndrome Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
SPANIEN
Cataluña
BARCELONA
NMD-ES: Myopathies due to collagen deficiency VI Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
SPANIEN
Comunidad Valenciana
VALENCIA
SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras
SPANIEN
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
SPANIEN
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
SPANIEN
Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
SPANIEN
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial
SPANIEN
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
SPANIEN
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
SPANIEN
Madrid
MADRID
ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
SPANIEN
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
SPANIEN
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
SPANIEN
País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco
TSCHECHISCHE REPUBLIK
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
TURKEI
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
TURKEI
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
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
UNGARN
Közép-Magyarország
BUDAPEST
SMA registry Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics
VEREINIGTES KONIGREICH
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
AUSTRALIEN
Western Australia
CRAWLEY
Nemaline myopathy variant database
University of Western Australia and Western
Centre for MedicalResearch
BELGIEN
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]
DANEMARK
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)
DEUTSCHLAND
Bayern
MÜNCHEN
MD-NET: Muskelbank (Muscle Tissue Culture Collection) - Partner der EuroBioBank
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
DEUTSCHLAND
Bayern
MÜNCHEN
Deutsches DM-Patientenregister: Patientenregister für Patienten mit Myotoner Dystrophie
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
FRANKREICH
ILE-DE-FRANCE
CRÉTEIL
DM Scope: Myotonic dystrophy patient registry in France - part of the TREAT-NMD network
CHU Henri Mondor
Service de neurologie
FRANKREICH
ILE-DE-FRANCE
PARIS
UMD DMD (Dystrophin) mutations database
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires
FRANKREICH
ILE-DE-FRANCE
PARIS
UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANKREICH
ILE-DE-FRANCE
PARIS
UMD EMD (Emerin) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANKREICH
OCCITANIE
MONTPELLIER
UMD DMD (Dystrophin) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANKREICH
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
ITALIEN
CAMPANIA
NAPOLI
Bank for the Diagnosis and Research on neuromuscular Disorders (NHMGB) (EuroBioBank partner)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica
ITALIEN
LAZIO
ROMA
Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to european Treat-NMD network
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. Neuropsichiatria Infantile
ITALIEN
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
ITALIEN
LOMBARDIA
MILANO
DNA cell lines and nerve muscle cardiac tissues bank (EuroBioBank partner)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
U.O. Malattie Neuromuscolari
ITALIEN
LOMBARDIA
MILANO
Movement Disorders Biobank (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
ITALIEN
LOMBARDIA
MILANO
Bank of cells, tissues and DNA from patients with neuromuscular diseases (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Laboratorio di Biologia della Cellula Muscolare
ITALIEN
LOMBARDIA
PAVIA
Database "Gene connection for the hearth: Registry of mutations"
Istituti Clinici Scientifici Maugeri
Servizio di Cardiologia Molecolare
ITALIEN
LOMBARDIA
SAN DONATO MILANESE
Italian registry of myotonic dystrophies
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
SPANIEN
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
SPANIEN
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
VEREINIGTE STAATEN
Georgia
ATLANTA
CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center
VEREINIGTE STAATEN
Kansas
OLATHE
VEREINIGTE STAATEN
Washington
SEATTLE
The Dysferlin Registry/LGMD2B/Miyoshi Myopathy 1
Jain Foundation Inc.
VEREINIGTES KONIGREICH
Essex
LONDON
North Star database
Great Ormond Street Hospital
Dubowitz Neuromuscular Centre
VEREINIGTES KONIGREICH
South Glamorgan
CARDIFF
Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network
University Hospital of Wales
Institute of Medical Genetics
VEREINIGTES KONIGREICH
Tyne & Wear
NEWCASTLE UPON TYNE
The Global Registry for COL6-related dystrophies
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine
VEREINIGTES KONIGREICH
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
AUSTRALIEN
New South Wales
MARRICKVILLE
DuchenneConnect Australia patient registry
Save Our Sons Duchenne Foundation
DEUTSCHLAND
Bayern
MÜNCHEN
Deutsches FKRP-Patientenregister - Eingebunden in das TREAT-NMD Netzwerk
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
DEUTSCHLAND
Bayern
MÜNCHEN
Deutsches FSHD-Patientenregister: Patientenregister für Patienten mit einer Fazioskapulohumeralen Muskeldystrophie (FSHD)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister
FRANKREICH
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
FRANKREICH
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
FRANKREICH
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
ITALIEN
EMILIA ROMAGNA
MODENA
Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - contributes to european Treat-NMD network
Università degli Studi di Modena e Reggio Emilia
Miogen
ITALIEN
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
NIEDERLANDE
Gelderland
NIJMEGEN
FSHD registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie
NIEDERLANDE
Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Neurologie
NIEDERLANDE
Limburg
MAASTRICHT
Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht
NIEDERLANDE
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
NIEDERLANDE
Zuid-Holland
ROTTERDAM
Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC
PORTUGAL
NORTE
PORTO
Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network
CGMJM - Centro de Genética Médica Jacinto Magalhães
Centro de Genética Médica Jacinto Magalhães
SPANIEN
Cataluña
BARCELONA
NMD-ES: Mitochondrial Diseases Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
SPANIEN
Cataluña
ESPLUGUES DE LLOBREGAT
NMD-ES: Mitochondrial Diseases Registry
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas
TSCHECHISCHE REPUBLIK
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
UNGARN
Közép-Magyarország
BUDAPEST
DMD registry - Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics
VEREINIGTES KONIGREICH
Greater London
LONDON
UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the TREAT-NMD network)
Action Duchenne
VEREINIGTES KONIGREICH
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
VEREINIGTES KONIGREICH
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
VEREINIGTES KONIGREICH
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
VEREINIGTES KONIGREICH
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
VEREINIGTES KONIGREICH
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
DEUTSCHLAND
Hamburg
HAMBURG
Morbus Pompe-Register
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
FRANKREICH
ILE-DE-FRANCE
PARIS
French certified registry of glycogen storage disease type 2
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire
PORTUGAL
NORTE
PORTO
MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research
SCHWEDEN
Region Skåne
LUND
TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science
SCHWEIZ
Suisse Alémanique
BERN
Swiss Pompe Registry
Inselspital Universitätsspital
Centre for Neuromuscular Diseases
SPANIEN
Cataluña
BARCELONA
NMD-ES: Pompe Disease Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
SPANIEN
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
SPANIEN
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
SPANIEN
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
Netzwerke für Register und Biobanken
ITALIEN
LIGURIA
GENOVA
TELETHON NETWORK OF GENETIC BIOBANKS
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
SPANIEN
Madrid
MADRID