Rete delle biobanche genetiche Telethon

3.4 Anni 2018/2021
241.978€ Totale Fondi

Le Biobanche Genetiche sono unità di servizio non-profit, finalizzate a raccolta, conservazione e distribuzione di campioni biologici con l'obiettivo di offrire servizi alle persone affette da malattie genetiche, alle Associazioni di Pazienti e alla comunità scientifica: consentono infatti di conservare campioni nel tempo secondo elevati standard di qualità, e renderli disponibili successivamente per diagnosi e ricerca in malattie genetiche. Diversi esempi dimostrano come l'accesso a un elevato numero di campioni faciliti enormemente l'individuazione di nuovi geni malattia e lo sviluppo di terapie. Scopo della Rete delle Biobanche Genetiche Telethon è pertanto quello di coordinare, a livello informatico, biobanche qualificate in modo da centralizzare campioni rari in un unico catalogo e migliorare l'accesso ai servizi, assicurando qualità dei campioni per i ricercatori, e tutela della privacy per i donatori, durante l'intero percorso dalla raccolta e conservazione all'uso di campioni e dati. La Rete, fondata nel 2008, attualmente comprende 11 Biobanche. Ognuna raccoglie linee cellulari, DNA e tessuti da pazienti con varie malattie genetiche. Ad oggi, sono conservati circa 125.500 campioni biologici per oltre 1500 differenti difetti genetici. Situate presso Strutture Sanitarie, le Biobanche sono geograficamente così distribuite: Biobanca di linee cellulari e DNA da pazienti affetti da malattie genetiche e Biobanca del Laboratorio di Genetica Umana (Direttore: Domenico Coviello); Biobanca del Centro Parkinson - Centro Parkinson, A.S.S.T. Centro specialistico ortopedico traumatologico Gaetano Pini - CTO – Milano (Direttore: Anna Lena Zecchinelli); Biobanca di linee cellulari e DNA di pazienti affetti da sindrome di Rett, disabilità intellettiva X-legata e altre malattie genetiche - Università di Siena, Azienda Ospedaliera Universitaria Senese – Siena (Direttore: Alessandra Renieri); Biobanca neuromuscolare di tessuti e campioni di DNA - Università di Padova, Azienda Ospedaliera Universitaria – Padova (Direttore: Elena Pegoraro); Biobanca di tessuto muscolare scheletrico, nervo periferico, DNA e linee cellulari da pazienti con malattie neuromuscolari - Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico – Milano (Direttore: Monica Sciacco); Biobanca di cellule, tessuto muscolare e DNA da pazienti con malattie neuromuscolari - Fondazione IRCCS Istituto Neurologico Carlo Besta – Milano (Direttore: Francesca Andreetta); Biobanca di malattie genomiche e genetiche - IRCCS Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG) (Direttore: Giuseppe Merla); Biobanca genetica di malattie rare, miopatie e cardiomiopatie primitive - Università degli Studi della Campania e Azienda Ospedaliera Universitaria “Luigi Vanvitelli” – Napoli (Direttore: Vincenzo Nigro); Biobanca di linee cellulari e DNA di pazienti con disturbi del movimento e malattie mitocondriali - Fondazione IRCCS Istituto Neurologico Carlo Besta – Milano (Direttore: Barbara Garavaglia); Biobanca di campioni genetici - BIOGEN - IRCCS Istituto Ortopedico Rizzoli - Bologna (questa biobanca ha ricevuto finanziamenti per l'integrazione nel TNGB dalla Fondazione del Monte di Bologna e Ravenna - Bologna) (Direttore: Luca Sangiorgi).

Pubblicazioni Scientifiche

2018-12-19 ACTA NEUROPATHOLOGICA COMMUNICATIONS
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient
2022-04-08 ACTA NEUROPATHOLOGICA COMMUNICATIONS
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
2019-04-01 AGING AND DISEASE
Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral Sclerosis
2019-03-07 AMERICAN JOURNAL OF HUMAN GENETICS
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
2021-12-02 AMERICAN JOURNAL OF HUMAN GENETICS
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
2020-12-01 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Expanding the phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies
2022-07-01 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
2023-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
2018-12-01 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Nablus syndrome: Easy to diagnose yet difficult to solve
2020-05-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
2020-07-01 ANNALS OF NEUROLOGY
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
2023-11-01 BIOCHEMICAL PHARMACOLOGY
High-throughput screening as a drug repurposing strategy for poor outcome subgroups of pediatric B-cell precursor Acute Lymphoblastic Leukemia
2020-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
The imbalance between dynamic and stable microtubules underlies neurodegeneration induced by 2,5-hexanedione
2020-06-01 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
2021-10-01 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB
2023-05-01 BIOMATERIALS ADVANCES
Patient's dermal fibroblasts as disease markers for visceral myopathy
2021-10-01 BIOMOLECULES
Sertoli Cells Improve Myogenic Differentiation, Reduce Fibrogenic Markers, and Induce Utrophin Expression in Human DMD Myoblasts
2021-11-01 BIOMOLECULES
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines
2021-12-01 BIOPRESERVATION AND BIOBANKING
Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
2021-12-14 BLOOD ADVANCES
Ablation of collagen VI leads to the release of platelets with altered function
2022-08-09 BLOOD ADVANCES
CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy
2022-06-02 BLOOD CANCER JOURNAL
Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies
2021-11-08 BMC BIOINFORMATICS
Laniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service
2020-03-01 BRAIN
α-Synuclein oligomers in skin biopsy of idiopathic and monozygotic twin patients with Parkinson's disease
2020-09-01 BRAIN
Saposin D variants are not a common cause of familial Parkinson's disease among Italians
2020-12-01 BRAIN
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
2021-09-01 BRAIN
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3
2021-07-01 BRAIN SCIENCES
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
2023-01-01 BRAZILIAN JOURNAL OF PSYCHIATRY
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
2018-11-01 CELL
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development
2021-03-23 CELL REPORTS
TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration
2022-12-01 CELL STEM CELL
3D ECM-rich environment sustains the identity of naive human iPSCs
2022-03-01 CELLULAR AND MOLECULAR LIFE SCIENCES
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
2021-12-01 CLINICAL EPIGENETICS
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
2018-05-01 CLINICAL GENETICS
CKAP2L mutation confirms the diagnosis of Filippi syndrome
2021-03-01 CLINICAL GENETICS
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
2020-05-01 CLINICAL NEUROPATHOLOGY
MicroRNAs and HDAC4 protein expression in the skeletal muscle of ALS patients
2022-10-26 COMMUNICATIONS BIOLOGY
An explainable model of host genetic interactions linked to COVID-19 severity
2025-07-19 COMMUNICATIONS BIOLOGY
Tissue-engineered neuromuscular organoids
2024-04-04 COMMUNICATIONS MEDICINE
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response
2021-03-01 EBIOMEDICINE
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
2021-03-02 ELIFE
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
2021-05-17 EMBO JOURNAL
TFG binds LC3C to regulate ULK1 localization and autophagosome formation
2022-01-04 EMBO JOURNAL
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation
2020-06-08 EMBO MOLECULAR MEDICINE
MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders
2020-11-06 EMBO MOLECULAR MEDICINE
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
2024-04-15 EMBO MOLECULAR MEDICINE
MET is a new confirmed gene responsible for familial distal arthrogryposis
2020-04-01 EUROPEAN JOURNAL OF HUMAN GENETICS
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
2020-09-01 EUROPEAN JOURNAL OF HUMAN GENETICS
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot
2020-11-01 EUROPEAN JOURNAL OF HUMAN GENETICS
ACE2gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
2021-05-01 EUROPEAN JOURNAL OF HUMAN GENETICS
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research
EUROPEAN JOURNAL OF HUMAN GENETICS
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2025-04-01 EUROPEAN JOURNAL OF HUMAN GENETICS
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
2020-01-01 EUROPEAN JOURNAL OF MEDICAL GENETICS
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype
2021-01-01 EUROPEAN JOURNAL OF MEDICAL GENETICS
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
2020-12-01 EXPERIMENTAL NEUROLOGY
Unique signatures of stress-induced senescent human astrocytes
2021-02-26 FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy
2018-12-07 FRONTIERS IN GENETICS
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
2020-01-08 FRONTIERS IN GENETICS
Quality Control Strategy for CRISPR-Cas9-Based Gene Editing Complicated by a Pseudogene
2021-06-21 FRONTIERS IN GENETICS
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
2021-12-08 FRONTIERS IN GENETICS
Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms
2024-05-22 FRONTIERS IN GENETICS
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features
2024-12-05 FRONTIERS IN GENETICS
Case report: A single novel calpain 3 gene variant associated with mild myopathy
2020-01-10 FRONTIERS IN NEUROLOGY
Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population
2018-11-01 GENES
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients
2021-04-01 GENES
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women
2021-05-01 GENES
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
2021-06-01 GENES
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females
2021-10-01 GENES
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics
2023-01-01 GENES
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
2022-02-01 GENES AND IMMUNITY
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
2018-02-28 HAEMATOLOGICA
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
2024-01-01 HLA
HLA-DPB1*013:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19
2018-12-01 HUMAN GENETICS
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
2024-06-01 HUMAN GENETICS
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
2018-03-15 HUMAN MOLECULAR GENETICS
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D
2018-07-01 HUMAN MOLECULAR GENETICS
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients
2018-11-01 HUMAN MOLECULAR GENETICS
Dissecting KMT2D missense mutations in Kabuki syndrome patients
2020-01-15 HUMAN MOLECULAR GENETICS
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models
2020-04-01 HUMAN MOLECULAR GENETICS
Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease
2018-09-01 HUMAN MUTATION
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel
2021-06-01 HUMAN MUTATION
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
2020-07-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation
2021-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Human Primary Dermal Fibroblasts Interacting with 3-Dimensional Matrices for Surgical Application Show Specific Growth and Gene Expression Programs
2021-07-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age
2021-12-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
2022-11-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
New TMA (4,6,4′-Trimethyl angelicin) Analogues as Anti-Inflammatory Agents in the Treatment of Cystic Fibrosis Lung Disease
2023-02-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes
2023-08-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects
2024-04-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines
2024-07-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
2019-09-27 ISCIENCE
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis
2021-07-23 ISCIENCE
Early onset effects of single substrate accumulation recapitulate major features of LSD in patient-derived lysosomes
2024-03-15 ISCIENCE
Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB
2018-01-01 JAMA NEUROLOGY
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
2018-05-01 JAMA NEUROLOGY
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
2020-11-01 JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
2022-10-01 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay
2020-04-01 JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients
2019-09-01 JOURNAL OF CELLULAR PHYSIOLOGY
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate
2024-07-15 JOURNAL OF CLINICAL INVESTIGATION
Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability
2022-07-01 JOURNAL OF CLINICAL LABORATORY ANALYSIS
Preanalytical DNA assessment for downstream applications: How to optimize the management of human biospecimens to support molecular diagnosis-An experimental study
2021-08-16 JOURNAL OF HEMATOLOGY & ONCOLOGY
SELP Asp603Asn and severe thrombosis in COVID-19 males
2018-05-01 JOURNAL OF HUMAN GENETICS
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
2020-02-01 JOURNAL OF HUMAN GENETICS
Alazami syndrome: the first case of papillary thyroid carcinoma
2021-06-01 JOURNAL OF MOLECULAR DIAGNOSTICS
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA
2018-06-01 JOURNAL OF NEUROLOGY
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations
2021-06-01 JOURNAL OF PERSONALIZED MEDICINE
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants
2021-12-15 JOURNAL OF THE NEUROLOGICAL SCIENCES
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
2019-07-01 MITOCHONDRION
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene
2020-05-27 MOLECULAR AUTISM
Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors
2022-09-08 MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice
2024-01-01 MOLECULES
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
2020-05-01 NATURE COMMUNICATIONS
Role of the nuclear membrane protein Emerin in front-rear polarity of the nucleus
2020-08-21 NATURE COMMUNICATIONS
Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons
2021-04-08 NATURE COMMUNICATIONS
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction
2020-12-01 NATURE GENETICS
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome
NATURE MEDICINE
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
2020-02-01 NEUROBIOLOGY OF DISEASE
Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis
2021-10-01 NEUROGENETICS
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation
2021-06-01 NEUROLOGICAL SCIENCES
A new mutation in DNM2 gene in a large Italian family
2020-02-01 NEUROLOGY-GENETICS
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
2020-04-01 NEUROLOGY-GENETICS
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
2018-06-01 NEUROMUSCULAR DISORDERS
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature
2018-07-01 NEUROMUSCULAR DISORDERS
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
2018-06-01 NEUROPEDIATRICS
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus
2018-06-21 NEUROSCIENCE LETTERS
Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients
2020-06-15 ORPHANET JOURNAL OF RARE DISEASES
Mowat-Wilson syndrome: growth charts
2022-02-22 ORPHANET JOURNAL OF RARE DISEASES
Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
2024-05-16 ORPHANET JOURNAL OF RARE DISEASES
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
2024-12-20 ORPHANET JOURNAL OF RARE DISEASES
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
2022-04-01 PARKINSONISM & RELATED DISORDERS
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
2022-09-01 PARKINSONISM & RELATED DISORDERS
Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype
2020-11-18 PLOS ONE
Clinical and molecular characterization of COVID-19 hospitalized patients
2022-07-22 SCIENCE
Pathogen-sugar interactions revealed by universal saturation transfer analysis
2020-05-08 SCIENTIFIC REPORTS
Assessment of haptoglobin alleles in autism spectrum disorders
2020-05-19 SCIENTIFIC REPORTS
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients
2023-04-18 SCIENTIFIC REPORTS
Assessment of haptoglobin alleles in autism spectrum disorders (vol 10, 7758, 2020)
2024-02-06 SCIENTIFIC REPORTS
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
2024-11-19 SCIENTIFIC REPORTS
Evaluating pathological levels of intracellular cholesterol through Raman and surface-enhanced Raman spectroscopies
2020-07-14 STEM CELL REPORTS
Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies
2021-06-08 STEM CELL REPORTS
Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes
2020-01-01 STEM CELL RESEARCH
Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations
2020-03-01 STEM CELL RESEARCH
Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene
2020-12-01 STEM CELL RESEARCH
Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)
2020-12-01 STEM CELL RESEARCH
Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY)
2021-01-01 STEM CELL RESEARCH
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome
2022-08-01 STEM CELL RESEARCH
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene
2020-11-01 TRANSPLANTATION
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation
2021-02-01 VASCULAR
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome

Il tuo browser non è più supportato da Microsoft, esegui l'upgrade a Microsoft Edge per visualizzare il sito.