The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

(2014) Susana Kalko et al.   BMC GENOMICS

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

(2014) B. Ayoglu et al.   EMBO Molecular Medicine

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

(2014) Stefania Di Costanzo et al.   HUMAN MOLECULAR GENETICS

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

(2014) Rachel Thompson et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

(2013) Sabrina Dusi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

International guidelines on biobank research leave researchers in ambiguity: why is this so?

(2013) Joanna Stjernschantz Forsberg et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Incidental findings: the time is not yet ripe for a policy for biobanks

(2013) Jennifer Viberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

(2013) Sally Spendiff et al.   HUMAN MOLECULAR GENETICS

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome

(2013) Anna Cozzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients

(2013) Teresa Gidaro et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

(2013) Mirella Filocamo et al.   Orphanet Journal of Rare Diseases

Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies

(2013) Elizabeth Stevens et al.   PLoS One

A SOLIDARITY-BASED APPROACH TO THE GOVERNANCE OF RESEARCH BIOBANKS

(2013) B. Prainsack et al.   Medical Law Review

Quantifying the use of bioresources for promoting their sharing in scientific research

(2013) Laurence Mabile et al.   GigaScience

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Toward a roadmap in global biobanking for health

(2012) Jennifer R Harris et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

(2012) Susan M. Wolf et al.   GENETICS IN MEDICINE

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties

(2012) A. Campanella et al.   HUMAN MOLECULAR GENETICS

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

(2012) L. Bello et al.   NEUROLOGY

Transplantation of Genetically Corrected Human iPSC-Derived Progenitors in Mice with Limb-Girdle Muscular Dystrophy

(2012) F. S. Tedesco et al.   Science Translational Medicine

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

(2011) G. Piluso et al.   CLINICAL CHEMISTRY

Enzyme Replacement Therapy for Pompe Disease

(2011) Corrado Angelini et al.   Current Neurology and Neuroscience Reports

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

(2011) Chantal A. Mutsaers et al.   HUMAN MOLECULAR GENETICS

Human Neurotrophin Receptor p75NTR Defines Differentiation-Oriented Skeletal Muscle Precursor Cells: Implications for Muscle Regeneration

(2011) Emanuela Colombo et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The Role of Biobanking in Rare Diseases: European Consensus Expert Group Report

(2010) Hanns Lochmüller et al.   BIOPRESERVATION AND BIOBANKING

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

(2010) John P. Kemp et al.   BRAIN

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

(2010) M. Meznaric et al.   EUROPEAN JOURNAL OF NEUROLOGY

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines

(2010) Emily Dick et al.   Stem Cell Research

Altered production of extra-cellular matrix components by muscle-derived Duchenne muscular dystrophy fibroblasts before and after TGF-β1 treatment

(2009) Simona Zanotti et al.   CELL AND TISSUE RESEARCH

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

(2009) S. Bulst et al.   HUMAN MOLECULAR GENETICS

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

(2007) Michela Guglieri et al.   HUMAN MUTATION