A novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
A silk-based bone marrow model to predict individual response to old and new drugs for increasing platelet count in inherited thrombocytopenias
Contribution of lipids and their oxidized metabolites on Arrhythmogenic Cardiomyopathy pathogenesis
Development of Exon Specific U1 snRNA-based therapy for Familial Dysautonomia
Extracellular ATP and T regulatory cells: new therapeutics targets in alpha-sarcoglycan deficient muscular dystrophy (LGMD2D)
Unveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b
2017
A mitochondrial therapy for muscular dystrophies
A novel comprehensive strategy for the study of the molecular basis of Familial Hemiplegic Migraine 3
A novel in vitro Duchenne Muscular Dystrophy cardiomyopathy model: human iPSC-derived cardiomyocytes for mechanistic studies
Charcot-Marie-Tooth type 2B: Role of the Rab7 GTPase and of Rab7 interacting proteins
Cone dystrophies and retinal degeneration from protein structures to biological networks. Toward the design of therapeutic molecules
Contribution of lipids and their oxidized metabolites on Arrhythmogenic Cardiomyopathy pathogenesis
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Developing tools for trial readiness in primary mitochondrial myopathies of the adulthood
Dissecting dendritic cell subsets as key to installing tolerance to FVIII in hemophilia A
Excitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Generation of an in vitro model to investigate replicative stress as the possible molecular mechanism underlying Schimke immunoosseous dysplasia
Genetic and pharmacological rescue of TM4SF2 loss of function in animal model and iPS cells
Hereditary spastic paraplegia: investigations on the regulation of spastin protein mediated by the kinase HIPK2 in proliferating cells and in neurons
Identification of new druggable targets and potential therapeutic compounds for Spinal Muscular Atrophy, using a C.elegans model of neurodegeneration
Impairment of GABAergic signaling and synaptic plasticity as key determinants for neurodevelopmental disorders: a study from NL3R451C knock-in mice, an animal model of autism
Implementation of human neuronal cultures and mouse models of Pantothenate kinase 2 deficiency to investigate pathogenic mechanisms of iron-related neurodegeneration and evaluate Coenzyme A therapeutic efficacy
Mitochondrial Ca2+ uptake in the pathogenesis of familial Alzheimer’s disease
Modulation of the cyclin inhibitor p27 to ameliorate Merosin Deficient Congenital Muscular Dystrophy (MDC1A)
Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling
Neuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes
Rescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
RNA-based studies of Duchenne Muscular Dystrophy: post-transcriptional control and role of non coding RNAs in normal and dystrophic muscle development
Role of the Coiled-coil structure of the Huntingtin protein in the intercellular propagation of polyQ aggregates and in the progression of the disease
SAP-mediated DGKa inhibition triggers a novel cell fate switch in antigen-activated T cells: implications for XLP1 therapy
Solving the puzzle of protocadherin-19 mosaicism to understand the pathophysiology of PCDH19 Female Epilepsy (PCDH19-FE)
Targeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches
Targeting lipids in CLN8-associated NCL diseases: structural and functional interaction of CLN8 with vesicle-associated membrane protein-associated protein A (VAPA), and genotype-phenotype correlations
Targeting mitochondria in myopathies with RyR1 and MICU1 mutations
Targeting neurons with cholesterol. How can it change the future of Huntington Disease patients
The ciliopathy-related traffic machinery: a new player in immune synapse assembly in T lymphocytes and a disease target in common variable immunodeficiency (CVID)
Unravelling the role of PAX2 mutations in human Focal Segmental Glomerulosclerosis
2016
Characterization of recently identified gelsolin variants responsible for a novel renal amyloidosis and in silico screening of drug candidates (website)
Chondrodysplasia with joint dislocations gPAPP type: insight on the molecular basis of the disorder and the role of IMPAD1 in post-natal skeletal development (website)
Clinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1 (website)
Clinical network and Registry for Trial Readiness in Spinal and Bulbar Muscle Atrophy (website)
Contribution of lipids and their oxidized metabolites on Arrhythmogenic Cardiomyopathy pathogenesis
Defining a role for GDD1/TMEM16E in the skeletal bone syndrome Gnathodiaphyseal Dysplasia (website)
Defining the molecular pathogenesis of the ribosomopathy cartilage hair hypoplasia (website)
Defining the role of the cellular prion protein at the intersection of several neurodegenerative diseases (website)
Developing tools for trial readiness in primary mitochondrial myopathies of the adulthood (website)
Development of in vivo therapeutic strategies for pain and pruritus in Olmsted syndrome (website)
Elucidating the genetic heterogeneity of Zimmermann-Laband syndrome (website)
Generation of a novel mouse model for SAM syndrome (website)
Generation of an in vitro model to investigate replicative stress as the possible molecular mechanism underlying Schimke immunoosseous dysplasia (website)
Investigating the contribution of the telomeric gene AKTIP in progeroid syndromes with unknown mutations (website)
Long term natural history in Duchenne muscular dystrophy (website)
Observational longitudinal study of growth patterns, body composition, energy expenditure and dietary intake in Italian infants and children with spinal muscular atrophy type I and II (website)
Parkinson’s disease at the synaptic site: short and long term impact of pathological LRRK2 kinase activity (website)
Rescue of Fanconi Bickel Syndrome by targeting glucose transport in the renal proximal tubule (website)
Telethon Undiagnosed Disease Program – Revised Proposal (website)
TTR-FAP Italian Registry: a collaborative network for definition of natural history, psychosocial burden, standards of care and clinical trials
Understanding the molecular mechanisms causing osteogenesis imperfecta type XIV due to loss-of-function in TMEM38B (website)
USEFUL: User-centred assistive SystEm for arm Functions in neuromuscuLar subjects (website)
2015
A Drosophila model for studying neurological defects associated with Congenital Disorder of Glycosylation type IIe (website)
A new exploitation of a tetracationic-porphyrin able to reduce PrPC and to inhibit PrPSc replication: characterization of the mechanism of action and preclinical studies in mouse models of genetic prion disease (website)
Analysis of neuronal alterations associated to PARK2 mutations and their rescue by genetic and pharmacological therapies targeting kainate receptors (website)
Bridging Timothy syndrome Cav1.2 calcium channel mutations (TS1 and TS2) to autism spectrum disorders (website)
Clinical, molecular and pathogenetic studies of Neutral Lipid Storage Disease (NLSD) (website)
Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6 (website)
Crosstalks between DNA damage response and retroelements activity in the pathogenesis of Aicardi-Goutières Syndrome (website)
Delineating the molecular pathway and pathogenic mechanism underlying autosomal dominant lateral temporal epilepsy (ADLTE) (website)
Discovering molecular defects of severe gut dysfunction: new abnormalities underlying Chronic Intestinal Pseudo-Obstruction (CIPO) (website)
Dissecting the molecular and cellular mechanisms of the MACS/RIN2 syndrome (website)
Drug testing for liver disease in alpha-1 antitrypsin deficiency by a large-scale patient-specific hiPS cells library (website)
Epigenetic and synaptic mechanisms affected in Fragile X Syndrome (website)
Exploring the pathogenetic Basis of ICF Syndrome With Human Induced Pluripotent Stem Cells (website)
Extending the Optic atrophy 1 dependent cristae remodeling: from models to a therapy of autosomal dominant optic atrophy
Fatal Familial Insomnia: preventive treatment with doxycycline of at risk individuals
Fibrous Dysplasia: A roadmap to treatment enabled by discovery of unpredicted mechanisms in first-in-class mouse models (website)
Functional and structural studies of human CLC chloride proteins involved in genetic diseases (website)
Gene therapy and long term evaluation of different dietary regimens in a Glycogen Storage Disease Type III KO mouse model (website)
Genetics, physiopathology and therapeutic options in a novel monogenic multisystem inflammatory disorder due to DNAse II deficiency (website)
Genotype-phenotype correlation for magnetic resonance imaging features of Mowat-Wilson syndrome with Zeb2 mutation/deletion; future discoveries of the role of the gene Zeb2 in the development of the human brain (website)
Genotype-phenotype correlations, novel pathogenetic mechanisms, and pilot clinical studies in neonatal epilepsies associated to mutations in the KCNQ2/3 potassium channel genes (website)
Identification of genes for Aicardi syndrome by exome sequencing (website)
Megalencephalic leukoencephalopathy with subcortical cysts: study of MLC molecular pathogenesis and identification of potential therapeutic targets using astrocytes derived from patient inducible pluripotent stem cells (website)
MitMed consortium: from the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models
Modulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies
Molecular and cellular underpinnings of the neurological phenotypes associated to mitochondrial citrate carrier (SLC25A1) deficiency (website)
Molecular bases of the Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome (website)
Multipotent and pluripotent stem cells for the elucidation and therapy of skeletal disease in mucopolysaccharidoses (MPSs) (website)
Neurotrophic treatment to rescue synaptic plasticity and cognitive functions in a mouse model of Down Syndrome (website)
New treatment strategies for Fibrodysplasia Ossificans Progressiva (website)
NGS techniques to explore unusual TCF4 mutations and genetic heterogeneity in patients with Pitt-Hopkins syndrome phenotype (website)
Novel pharmacologic approaches to hepcidin genetic disorders (website)
Novel pharmacological approaches to increase ketone bodies availability in GLUT1 Deficiency Syndrome (website)
Oxidative stress and Cerebral Cavernous Malformations (CCM): from disease mechanisms toward prevention and treatment (website)
Patient-specific cellular models for Spinal Muscular Atrophy with progressive Myoclonic Epilepsy: from pathogenesis to therapeutics development for a neglected neurological disorder (website)
Phenotypic rescue of the DiGeorge syndrome phenotype in mouse models (website)
Plasmacytoid dendritc cells functions and autoimmunity in Wiskott-Aldrich syndrome (website)
Platelet type-Von Willebrand disease: a rare, under-diagnosed, inherited bleeding disorder. Studies to improve the diagnosis and to understand the mechanisms of platelet dysfunction and macrothrombocytopenia (website)
Potential therapeutic effect of beta3-adrenergic receptor agonists on X-linked Nephrogenic Diabetes Insipidus (website)
Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target
RNA therapeutics for Friedreich’s Ataxia (website)
Role of unprenylated 2’,3’-cyclic-nucleotide 3’-phosphodiesterase in the molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency (website)
Small molecules to rescue folding-defective sarcoglycans: in vivo assessment of novel therapeutic strategies (website)
Structural and functional studies of HCN1 channel mutations causing early infantile epileptic encephalopathy (website)
The chromatin basis of neurologic dysfunction in the SWI/SNF-related autism syndrome (website)
The HSPB2-HSPB3 complex: unraveling new functions that affect nuclear homeostasis and their implication in neuromuscular and muscular diseases (website)
Therapeutic potential of ceruloplasmin administration in aceruloplasminemia (website)
Therapeutic Strategies for CDKL5 Disorder (website)
Understanding and correcting SETD5 haploinsufficiency leading to intellectual disability (website)
A mitochondrial therapy for muscular dystrophies (website)
A novel AID structure providing new insight into HIGM2 (website)
A novel strategy to deliver glucose to the brain under conditions of glucose transporter deficiency (website)
Brain mapping of the cortical representation of facial movements in patients with congenital facial palsy undergoing surgical procedures of facial animation (website)
Building a Nation-wide Italian collaborative network for muscle glycogenoses: registry and natural history (website)
Cell therapy for Crigler-Najjar type I syndrome using human adult liver stem cells (website)
Cellular and animal models of CLOVES syndrome (website)
CMT National Registry: towards definition of standards of care and clinical trials (website)
Complete molecular characterization of patients affected by congenital muscular dystrophies with alpha-dystroglycan defect using next generation sequencing strategies (website)
Cryopyrin associated periodic syndromes (CAPS): investigations on patients blood cells and in a knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome (website)
Dechipering the mechanism of immune dysfunction in Vici syndrome (website)
Determinants of neurodegeneration in Ataxia Telangiectasia (website)
Developing peptides pharmacologically active for the most frequent Wilson disease-causing ATP7B mutant (website)
Development and implant of the photovoltaic artificial retina in the pig with photoreceptor degeneration: towards the human Phase-1 experimentation (website)
Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations (website)
Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome (website)
Development of an Italian Clinical Network for Spinal Muscular Atrophy (website)
Disease gene identification in non-photosensitive trichothiodystrophy by exome sequencing (website)
Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules (website)
Dissecting The Molecular Function Of Mutant Huntingtin With Stem Cells (website)
Drosophila melanogaster as a model to study the role of the Fragile X Mental Retardation Protein in the genome stability pathway mediated by piRNAs (website)
Evaluating the role of ubiquitin and endocytosis in Gitelman syndrome (website)
Exploring PEDF as therapeutic agent for retinitis pigmentosa (website)
Familial ß2-microglobulin amyloidosis: from the elucidation of the pathogenic mechanism to the discovery of novel effective drugs
(website)
FSHD Muscular Dystrophy Provides a Molecular Understanding of the Repetitive (epi) Genome (website)
Functional role of Ezh2 mutations in Weaver Syndrome (website)
Generation of animal models to define molecular mechanisms and novel therapeutic strategies for Familial Primary Localized Cutaneous Amyloidosis (website)
Identification of new therapeutic agents for the treatment of Glycogenosis type 2 due to the common splicing mutation c.-32-13T>G (website)
Identification of novel gene(s) associated with Crisponi/Cold Induced Sweating syndrome-like phenotypes by whole-exome sequencing (website)
Improving MC4R signaling via isoform selective PI3K targeting to fight melanocortin obesity syndrome (website)
In vitro feasibility study of a protein replacement therapy for methylmalonic acidemia with homocystinuria CblC type: delivery of recombinant human MMACHC proteins into primary fibroblasts from CblC patients (website)
In-depth phenotyping and experimental therapy of autosomal dominant osteopetrosis (website)
Innovative therapeutic strategy for Duchenne Muscular Dystrophy by AAV mediated delivery of artificial transcription factor genes (website)
Installing FVIII-specific tolerance in hemophilia A via tryptophan catabolites and aryl hydrocarbon receptor (AhR) activation (website)
Investigation of the molecular basis of Posterior Colum Ataxia and Retinitis Pigmentosa (website)
JP45 a functional modifier in ryanodinopathies (website)
Manipulating Autophagy in Muscle Diseases (website)
Molecular mechanisms of pathogenesis and preclinical treatment in renal disorders associated with uromodulin mutations (website)
Motor neuron degeneration in Spinal and Bulbar Muscular Atrophy: molecular approaches to counteract mutant androgen receptor neurotoxicity (website)
Neurodevelopmental alterations in Weaver syndrome: a cell reprogramming-based approach to the elucidation of epigenetic disease mechanisms (website)
New strategies to target hyper-excitability in Rett syndrome (website)
Novel therapeutic interventions for cerebral cavernous malformations (website)
Peptide-conjugated Morpholino for treatment of Spinal Muscular Atrophy (website)
Phenotypic and molecular characterization of FSHD families: a systematic approach towards trial readiness (website)
Preclinical evaluation of pharmacogenetics and new therapeutic options in nondystrophic myotonias toward personalized medicine (website)
Protein misfolding in Charcot-Marie-Tooth disease: towards the development of a therapeutic strategy targeting the Unfolded Protein Response (website)
Regulation of SMN2 splicing in cell and mouse models of Spinal Muscular Atrophy (website)
Renal Disease In Genetic Lcat Deficiency: From Pathogenesis To Therapy (website)
Role of Prostaglandin D2 Synthase in PNS Myelination and Remyelination (website)
Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes (website)
SAMHD1, a new regulator of DNA replication involved in Aicardi-GoutiŠres syndrome (website)
Skeletal muscle and circulating microRNAs in Myotonic Dystrophy Type 1 (website)
The metabolic abnormality of Hereditary Hemochromatosis: mechanisms and consequences of hepcidin deficiency on glucose homeostasis and insulin signaling (website)
Transcriptional and epigenetic dysfunction in Williams Beuren and 7q11.23 microduplication syndromes (website)
Translating molecular pathology into a therapeutic strategy in SCA38, a newly identified form of spinocerebellar ataxia (website)
Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1 (website)
Validation of the human delta globin gene as a therapeutic target for Beta Thalassemia and Sickle Cell Disease (website)
A Drosophila model for Spinal Muscular Atrophy (SMA): identification and characterization of Smn interactors and phenotypic modifiers (website)
A novel AID structure providing new insight into HIGM2 (website)
Activation of serotonin type 7 (5-HT7) receptors as a novel therapeutic strategy in Fragile X Syndrome (website)
Altered calcium handling in Central Core Disease and Malignant Hyperthermia: understand molecular mechanisms and genetic background to develop innovative therapeutic interventions (website)
An integrated strategy to functionally dissect the genetic and epigenetic mechanisms underlying Kabuki Syndrome (website)
Analysis of lyn core signaling machinery in neuroacanthocytosis (website)
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? (website)
CFTR-Deficiency causes a dysregulation in toll-like receptor-mediated innate immune responses: pathogenetic and therapeutic implications for cystic fibrosis-related liver disease
Clinical, genetic and functional studies on Joubert syndrome and related disorders: a model to understand the complexity of ciliopathies (website)
Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients (website)
Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome (website)
Development of an uricolytic treatment for HPRT-deficiency in animal models (website)
Dechipering the mechanism of immune dysfunction in Vici syndrome (website)
Dissecting the molecular basis of SEPN1-related-myopathies (website)
Engineered T regulatory cells to control the immune-inflammatory response and the accelerated onset of atherosclerosis in familial hypercholesterolemia (website)
Enlightening molecular mechanisms of abnormal cerebellum development in mouse models of human Niemann-Pick C 1 disease: the efficacy of hydroxypropyl-betacyclodextrin in correcting the phenotype (website)
Epigenetic therapy to abrogate myostatin signalling in Duchenne Muscular Dystrophy (website)
Evaluating the role of ubiquitin and endocytosis in Gitelman syndrome (website)
Exploiting neural stem cell-targeted mouse models for improving the understanding of the pathogenetic mechanisms underlying Tuberous Sclerosis Complex and developing novel therapeutic approaches (website)
Extracellular adenosine-triphosphate (e-ATP) and purinergic signalling in the pathogenesis of alpha-sarcoglycan deficient muscular dystrophy (LGMD2D) (website)
Gain-of-function mutations of the V2 vasopressin receptor in nephrogenic syndrome of inappropriate antidiuresis (NSIAD): molecular characterization and in silico identification of potential therapeutic agents (website)
Genetic diseases of mitochondrial shape: integrated approaches to understand pathogenesis and establish treatments (website)
Hypertrophic cardiomyopathy caused by mutations in the thin filament regulatory proteins of the sarcomere (website)
Identification of molecular targets for the treatment of the skeletal phenotype in Lysosomal Storage Disorders (website)
In-depth clinical and genetic study of familial and sporadic patients with Nocturnal Frontal Lobe Epilepsy (NFLE): identification of new genes by WES in 192 cases negative for mutations in the neuronal nicotinic acetylcholine receptor subunits genes (website)
Inner ear connexins: role in hearing acquisition and DFNB1 pathophysiology (website)
Isolated domains of aminoacyl tRNA syntethases as a novel therapeutic tool for mt tRNA mutation associated disease (website)
Investigation of the molecular basis of Posterior Colum Ataxia and Retinitis Pigmentosa (website)
Modelling etiopathogenesis of the Foxg1-linked variant of West syndrome (website)
Modulation of dystrophic microenvironment to improve stem cell-mediated therapy (website)
Molecular bases of Noonan Syndrome and related disorders (website)
Neurodevelopmental alterations in Weaver syndrome: a cell reprogramming-based approach to the elucidation of epigenetic disease mechanisms (website)
New approaches to the molecular pathogenesis of CCHS: implications for therapeutic strategies (website)
Pathogenesis of primary and secondary Coenzyme Q deficiency (website)
Post GWAS functional characterization of BCL11A locus toward the development of a treatment for á-thalassemia (website)
Preclinical evaluation of biocompatible nanoparticles as delivery system of antisense oligoribonucleotides for exon skipping-mediated dystrophin restoration (website)
Protein kinase C Theta as a novel molecular target to counteract inflammation in Muscular Dystrophy (website)
Purkinje cell degeneration in Marinesco-Sjogren syndrome: role of cell stress, alterations of proteostasis and calcium homeostasis (website)
Relevance of the axonal SMN protein (a-SMN) for Spinal Muscular Atrophy: novel cell models, transgenic mice and therapeutic approaches (website)
Rescue of Diamond-Blackfan Anemia haploinsufficiency by knock-up of the deficient protein (website)
Ring 14 syndrome: toward a detailed genotype-phenotype correlation (website)
Role of SAP-mediated inhibition of DGKa in regulating restimulation induced cell death (RICD): does DGKa targeting rescue RICD in XLP patients? (website)
Role of the novel presynaptic protein PRRT2 in neuronal physiology and in the pathogenesis of paroxysmal neurological disorders (website)
Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes (website)
Semaphorin3E and CHD7 signalling pathways in the control of olfaction and reproduction: link for Kallmann and CHARGE syndromes? (website)
Structural and functional analysis of selected connexin32 mutations implicated in the pathogenesis of the X-linked form of Charcot-Marie-Tooth disease
Targeting ER stress to treat osteogenesis imperfect (website)
Thalidomide for the treatment of severe recurrent epistaxis in hereditary hemorrhagic telangiectasia: clinical trial on the efficacy of oral administration and “in vitro” study of a new drug formulation for a topical effect (website)
Translating current and new knowledge on the developmental function of p63 into restoring normal development in models of organ culture and in vivo (website)
Understanding ATM dependent control of cellular metabolism (website)
Unravelling the Rett syndrome: effects of MeCP2 mutations on synaptic function (website)
Analysis of neuronal alterations associated to TM4SF2 mutations and their rescue by genetic and pharmacological therapies (website)
Analysis of RAB39B role in X-linked Intellectual Disability: AMPA receptors as possible therapeutic targets (website)
Assessement of the pathogenic role of a missense variant in a benign autossomal dominant myopathy with hyperCKaemia (website)
Assessment of upper limb function in non ambulant Duchenne muscular dystrophy (website)
Calcium dysregulation and oxidative stress: from molecular mechanisms to therapeutic implications in Hailey-Hailey diseas (website)
Cellular models to identify the mechanisms underlying the chromosome abnormalities of cohesinopathy patients (website)
CFTR-Deficiency causes a dysregulation in toll-like receptor-mediated innate immune responses: pathogenetic and therapeutic implications for cystic fibrosis-related liver disease (website)
Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of congenital myopathy: understanding the mechanisms leading to disease (website)
Clinical, morphological and molecular study of italian patients with congenital myopathy (website)
Control of ATM activity by DICER and DROSHA RNA products (website)
Development and application of opto-neural prosthetic devices as a therapeutic approach for Retinitis pigmentosa (website)
Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy (website)
Development of the Italian National Registry for FSHD (website)
Dissecting the molecular mechanisms underlying epidermal defects in AEC syndrome (website)
Drug discovery for dystroglycanopathies via LARGE promoter activation screening (website)
Engineered T regulatory cells to control the immune-inflammatory response and the accelerated onset of atherosclerosis in familial hypercholesterolemia (website)
Evaluation of bone turnover, bone metabolism, bone density, and fractures in children with Duchenne Muscular Dystrophy and possible side effects of long-term corticosteroid therapy (BON-DMD) (website)
Exploring mitochondrial dysfunction in calpain-3 related muscular dystrophy (website)
Extending the Optic atrophy 1 dependent cristae remodeling: from models to a rationale for therapy of autosomal dominant optic atrophy (website)
Extracellular adenosine-triphosphate (e-ATP) and purinergic signalling in the pathogenesis of alpha-sarcoglycan deficient muscular dystrophy (LGMD2D) (website)
FSHD muscular dystrophy: molecular pathogenesis and prospects for therapy (website)
Function and dysfunction of the Parkinson’s disease kinase LRRK2 at the pre-synaptic site (website)
Genetic diagnosis of Italian LGMD patients by NGS technology (website)
Hemochromatosis: from genes to clinics and back (website)
Identification and functional characterization of molecular targets of the Sox2 transcription factor in human inherited brain disease: an approach through Sox2 conditional knockout in mouse (website)
Identification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic/pharmacological therapies in animal models and patients’ derived iPS cells (website)
Identification of novel genes for autosomal dominant lateral temporal epilepsy in families without LGI1 mutations (website)
Identification of the gene determining Limb Girdle Muscular Dystrophy type 1H (website)
Identification of the gene responsible for a new form of distal myopathy (website)
Identification of the gene responsible for an autosomal dominant form of Common Variable Immunodeficiency (website)
Identification of therapeutic targets in primary microcephaly through the analysis of the CIT-K/ASPM pathway (website)
Impact of reduced glial-derived cholesterol in Huntington’s disease (website)
Improving the diagnostic accuracy of a neonatal screening protocol for Cystic Fibrosis: choice of the optimal thresholds for the blood level of immunoreactive trypsin (IRT) (website)
Is the limb-girdle muscular dystrophy type 2H a defective autophagy disease? (website)
Low-protein diet to correct defective autophagy in patients with collagen VI related myopathies (website)
Melusin gene therapy: a possible approach to prevent cardiomyopathy (website)
Mesenchymal Stem Cell Transplantation as a therapeutic approach to RANKL-dependent Osteopetrosis (website)
Mitochondrial dynamics and calcium homeostasis at the crossroad of the AFG3L2-associated pathway to cerebellar degeneration. From molecular hypothesis to preclinical treatment (website)
Model systems to identify genes and factors in the signal transduction pathway defective in Ataxia telangiectasia patients (website)
Molecular mechanisms of transport, small ligand modulation, and subunit interaction of chloride transporting CLC proteins involved in human genetic diseases (website)
Muscular miRNome and transcriptome analysis as a tool for the identification of biomarkers in spinal muscular atrophy (website)
Mutant prion protein impairs delivery of voltage gated calcium channels to the presynaptic membrane: mechanisms of neurotoxicity and potential therapeutic strategies (website)
Myopalladin in Dilated Cardiomyopathy and Limb Girdle Muscular Dystrophy (website)
New pharmacological targets in Fanconi Anemia (website)
Novel structure-guided therapeutic approaches for oculopharyngeal muscular dystrophy (OPMD) and related diseases (website)
Oxytocin analogs in Prader-Willi syndrome: new tools to investigate and treat social and cognitive autistic-like symptoms (website)
Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata: Biochemistry and Therapeutic Avenues (website)
Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets (website)
Pharmacological rescue of misfolded proteins: innovative approaches for the cure of three muscular diseases (website)
Phospholipid metabolism and membrane trafficking in the pathogenesis of Charcot-Marie-Tooth neuropathies (website)
PINK1, mutated in autosomal recessive Parkinson’ s disease, interacts with the proautophagic protein Beclin1 and its antiapoptotic partner Bcl-xL: unraveling the significance of these interactions at the crossroad of multiple neuroprotective pathways (website)
Preventive therapy of mental retardation in Down syndrome by a novel gamma-secretase inhibitor: focus on APP-dependent mechanisms in neurodevelopment (website)
Role of dysregulated astrocyte-GABAergic interneuron interactions in the control of seizures in monogenic models of epilepsy (website)
Role of Jab1 in the control of nerve development and repair: implication in the pathogenesis of Merosin Deficient Congenital Muscular Dystrophy (MDC1A)-associated hereditary neuropathies (website)
Role of purinergic receptors in myelination: therapeutic implications for treatment of the peripheral neurophaty Charcot-Marie-Tooth 1A (website)
Role of Rho family GTPases during neuronal development (website)
Role of the gene PC4/IFRD1 in muscle and neuron regeneration (website)
Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets (website)
Statins as potential therapeutic agents for handling Nephrogenic Diabetes Insipidus (website)
Structural and functional analysis of selected connexin32 mutations implicated in the pathogenesis of the X-linked form of Charcot-Marie-Tooth disease (website)
TGFbeta1 in Huntington Disease: a new disease mechanism and potential biomarker (website)
The Heme-oxygenase 1 (HO-1) as modulator of Cystic Fibrosis lung disease (website)
The Role of Inositol 1,4,5-trisphosphate Mediated Nuclear Ca2+ Signals In Core Myopathies (website)
The role of neuronal nicotinic receptors in the pathogenesis of autosomal dominant nocturnal frontal lobe epilepsy: a study on wild-type and conditional transgenic mice expressing the beta2-V287L subunit (website)
Therapeutic strategies to ameliorate heme-driven tissue oxidative injury in sickle cell anemia (website)
Towards the Comprehension of Polycystin-1 Function and Identification of Specific Targets for Therapy in ADPKD
Uncovering the molecular pathology of Werner syndrome: analysis of the functional relationship between ATR-related WRN function, replication stress and premature cellular senescence (website)
Understanding XY chromosome segregation defects in mammals: new insights from the regulation of expression and function of SPO11 splice isoforms (website)
2011
A microRNA dimmer switch for hematopoietic stem cell gene therapy (website)
A national network for the study of spinocerebellars ataxia and spastic paraparesis in Italy (website)
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies (website)
A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations: An Experimental and Clinical Study (website)
A pharmacological approach to RANKL-dependent osteoclast-poor Autosomal Recessive Osteopetrosis (website)
Analysis at the molecular level of the interaction between alpha-dystroglycan and beta-dystroglycan and involvements for physiopathology of muscle (website)
Analysis of the role played by P63 and DLX genes in the pathogenesis of split hand and foot Malformation-4 (website)
Bone mass and Bone Metabolism in Duchenne muscular dystrophy (website)
Cell Therapy of Duchenne Muscular Dystrophy by Intra-Arterial Delivery of HLA-Identical Allogeneic Mesoangioblasts (website)
Cell therapy strategies for tolerance induction in humans (website)
Cell/gene transfer based therapies for IPEX Syndrome and FOXP3-gene independent diseases with immune dysregulation (website)
Cellular and Molecular Mechanisms Underlying Autoimmune Manifestations in Wiskott Aldrich Syndrome (website)
Cilia and human diseases: insights from the OFD type I syndrome (website)
Clinical and laboratory network for LGMD diagnosis, in view of a national registry (website)
Clinical trial of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome (website)
Defining the cellular and molecular basis of the Spondyloepiphyseal Dysplasia Tarda and identification of targets for pharmacological intervention (website)
Developing a rational basis for pharmacological correction of the D508-CFTR folding trafficking defects (website)
Development of a fly model for Juvenile Myoclonic Epilepsy (website)
Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons (website)
Development of an Instrumented Movement Analysis protocol for the multitasking analysis of locomotor functions in adult and young patients with Charcot-Marie-Tooth disease: multicenter study to characterise reliability and responsiveness (website)
Development of new strategies for the treatment of Primary Hyperoxaluria Type I (website)
Dissecting the molecular basis of neurodegeneration in Cockayne syndrome (website)
Dissecting the molecular mechanisms underlying endocytic dysfunctions induced by mutations in OCRL and CLC5 to identify correctors for Lowe syndrome and Dent disease (website)
Dissecting the molecular mechanisms underlying epidermal defects in AEC syndrome (website)
Dissection of Cellular and Molecular Mechanisms Underlying Autoimmunity in Omenn Syndrome (website)
Efficacy and Safety of Transcriptional Repressors as Biotherapeutics for the Treatment of Autosmal Dominant Retinitis Pigmentosa (ADRP) (website)
Functional and epidemiological study of neuroferritinopathies: implications for the role of iron in neurodegenerative disorders (website)
Functional determinants of episodic ataxia/myokymia syndrome (website)
Gene therapy for Chronic Granulomatous Disease (website)
Gene Therapy for Inborn Errors of Hepatocyte Metabolism (website)
Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) (website)
Gene therapy strategies for Antigen-specific tolerance induction in vivo (website)
Generation of animal models and definition of the molecular mechanisms of the human amyloid corneal dystrophy (website)
Genetic basis of steroid resistant nephrotic syndrome and implications for therapy (website)
Genetic basis of steroid resistant nephrotic syndrome and implications for therapy (website)
Genomic and proteomic clinic study of Parkinson’s Disease linked to PINK1, gene cellular models and clinic-diagnostic translation (website)
Growth disorders and genomic imprinting: genetic defects and molecular mechanisms (website)
Hematopoietic stem cell gene therapy for the treatement of globoid cell leukodystrophy (website)
Hematopoietic stem cell gene therapy for the treatment of type I mucopolysaccharidosis (website)
Hereditary chloride channelopathies of skeletal muscle and kidney: from genotype to phenotype and novel pharmacotherapeutical approaches (website)
Homopolymeric alanine repeats: structure, function, and mechanistic role in the pathogenesis of polyalanine expansion genetic diseases (website)
HSC Gene Therapy for LSDs: Understanding the Modalities of Cell Replacement in the LSD Brain for Improving Therapeutic Efficacy (website)
Identification and characterization of proteins that, interacting with MeCP2, could be involved in Rett syndrome (website)
Identification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic/pharmacological therapies in animal models and patients’ derived iPS cells (website)
Identification of new genes associated to familial idiopathic steroid-resistant nephrotic syndrome (website)
Identification of novel compounds for the pharmacological correction of cystic fibrosis chloride transport defect (website)
Identification of Novel Strategies to Correct the Chloride Transport Defect (website)
Identification of Recessive Genes Causative for Parkinson’s Disease using Exome Sequencing (website)
Identification of therapeutic targets in primary microcephaly through the analysis of the CIT-K/ASPM pathway (website)
Improving Safety of Lentiviral Gene Transfer (website)
Increasing Clonal Diversity of Genetically Modified HSC (website)
Inherited defects in DNA damage signaling causing neuronal degeneration: understanding the mechanisms (website)
Integrated in silico, in vitro, and in vivo studies towards the design of molecules with therapeutic potential for Retinitis Pigmentosa (website)
Integration core: integration site analysis in a clinical trial of lentiviral vector based hematopoietic stem cell gene therapy for metachromatic leukodystrophy (website)
Investigating new therapeutic approaches to Friedreich’s Ataxia (website)
Involvement of synapsin genes in epilepsy: genetic and functional analysis in human and mouse (website)
Laminins receptors and signals in hereditary neuropathies (website)
Liver gene transfer and hemophilia gene therapy (website)
Loss of central and peripheral tolerance mechanisms leading to autoimmune manifestations in ADA-deficient SCID (website)
Mechanisms underlying altered GABAergic signaling in the hippocampus of transgenic mice carrying the human R451C mutation of the NLG3 gene: an animal model of autism (website)
MeCP2 phosphorylation and related kinases in Rett syndrome and early infantile epileptic encephalopathy 2 (website)
MicroRNA-Regulated Gene Networks in the Retina (website)
MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders (website)
Models of atlastin function and dysfunction (website)
Modifying Lysosomal Enzymes to Improve Secretion and Brain Delivery [SuRE] (website)
Modulation of Cellular Clearance in Lysosomal Storage Disorders (website)
Modulation of Eukaryotic Initiation Factor 6 Activity as a Therapeutic Tool in Ribosome-Based Disease (website)
Molecular bases and in vitro modeling of Cdkl5 dependent infantile neurological disorders (website)
Molecular mechanisms underlying brain alterations in the CDKL5 variant of Rett’s syndrome (website)
Molecular pathogenesis of catecholaminergic polymorphic ventricular tachycardia (CPVT) linked to calsequestrin 2 (casq2) mutations (website)
Mutations of cardiac calsequestrin and cardiac arrhythmias: novel insights on pathogenesis and therapy (website)
New diagnostic and therapeutic approaches for the Crigler-Najjar Syndrome Type I (website)
Novel optogenetic approach to investigate arrhythmogenesis in dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (website)
Novel outcome measures for Charcot-Marie-Tooth disease (website)
Novel strategies to cure hereditary hemochromatosis through modulation of the BMP/SMAD pathway regulating the iron hormone hepcidin (website)
Omics-based approaches for the identification of novel inherited non-syndromic sensorineural hearing loss-related genes (website)
Osteoporosis in cystic fibrosis: study of bone mass and bone metabolism, and prospective randomized therapeutical trial (website)
Overcoming the Challenge of Large Gene Transfer for the Therapy of Inherited Photoreceptor Diseases (website)
Pathogenesis of Wilson Disease: Molecular mechanisms of ATP7B trafficking in the maintenance of copper homeostasis (website)
Pathogenetic mechanisms of familial Parkinson s disease: wt and A30P alpha-synucleins affect the structure of microfilaments and intermediate filaments. Pathways and effects on cytoskeletal dynamics (website)
Peripheral blood gene expression profiling of LRRK2 and Parkin monogenic forms of Parkinson’s disease for disease assessment (website)
Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of metachromatic leukodystrophy (website)
Phenotypic variability and gene haploinsufficiency (website)
Preclinical safety evaluation of gene therapy medicinal products: tumorigenicity and toxicology study for beta-thalassemia gene therapy clinical trial (website)
Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target (website)
Reversible immortalization and transduction with a dystrophin artificila chromosome of human DMD mesoangioblasts for the cell therapy of muscular dystrophy (website)
RNA-based gene therapy of Duchenne Muscular Dystrophy: role of miRNA deregulation in the pathogenesis of DMD and their possible use for improving the exon skipping strategy (website)
Role of altered proteolysis in the degeneration of motor neurons in in vivo and in vitro models of Amyothrophic lateral sclerosis (website)
Role of astrocytic inwardly-rectifying K+ channels in the pathogenesis of Autism Spectrum Disorders with susceptibility to seizures (Autism-Epilepsy Phenotype) (website)
Role of melusin in cardiomyopathies and heart failure (website)
Role of non muscle myosin IIA in MYH9 related disease (website)
Role of oligophrenin-1 in circuit formation and function in a mouse model of X-linked mental retardation (website)
Role of the Epigenome and noncoding Genome in Duchenne Muscle Dystrophy (website)
Severe Combined Immunodeficiency due to ADA deficiency (website)
Site specific integration and gene correction (website)
Small Molecule-Based Therapies with for Lysosomal Storage Diseases (website)
Study of improving Safety of Lentiviral Gene Transfer (website)
Systematic gene hunting for nuclear modifiers in Leber’s hereditary optic neuropathy and their validation in model systems (website)
Systems biology of genetic diseases: elucidating gene function and drug mode of action (website)
The families of children with muscular dystrophies: burden, social network and professional support (website)
The functional role of the Calcium Activated Nucleotidase 1 (CANT1) gene in the skeleton: an in vivo study with a mouse model of Desbuquois dysplasia (website)
The intracellular control of Thyroid hormone signaling in muscle stem cells and in Duchenne Muscular Dystrophy (website)
The intraflagellar transport system, a novel regulator of immune synapse assembly: functional dissection in T-cell antigen receptor trafficking and assessment as disease target in common variable immunodeficiency (website)
The P2X7 receptor/adenosine-generation system: a novel target for the therapy of autoinflammatory diseases (website)
The role of iron and mitochondria in the pathogenesis of Pantothenate Kinase Associated Neurodegeneration (PKAN): development of new neuronal cellular systems and analysis of a mouse model (website)
The role of neuroserpin in Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) (website)
The role of proteoglycan sulfation in skeletal development and maintenance: an in vivo approach with a mouse model of Diastrophic Dysplasia (website)
The role of RNaseH2 in the pathogenesis of Aicardi-Goutieres syndrome (website)
Toward a mitochondrial therapy of collagen VI muscular dystrophies (website)
Towards an NGF-based therapy for Hereditary Sensory and Autonomic Neuropathies IV and V (website)
Towards better AAV gene therapy: whole genome siRNA and microRNA high throughput screening for the identification of the molecular determinants governing AAV vector transduction, vector production and vector-induced gene correction (website)
Towards Clinical Trials for AAV-Mediated Eye – and liver – Directed Gene Therapy (website)
Tracking and Modeling of HSC Clonal Dynamics by Vector Marking (website)
Transcription factors of the dlx homeogene family in the control of limb, craniofacial, and anterior brain development: in vivo functional studies (website)
Translating current and new knowledge on the developmental functions of p63 into restoring normal development in models of organ culture and in vivo (website)
Treat-nmd Outcome Measures (website)
Ultrasound tissue characterization detects preclinical myocardial structural changes in patients affected by Duchenne and Becker muscular dystrophy (website)
Understanding the WHIM syndrome: molecular analysis of CXCR4 functions in leukocyte trafficking and activation (website)
A link between Toll-like Receptor signaling in dendritic cells and autoimmune manifestations in Wiskott-Aldrich syndrome (website)
A Multicenter Study To Evaluate The Effects On Charcot-Marie-Tooth Neuropathy Type 1a Of A Composite Treadmill, Stretching And Proprioceptive Exercise (Trespe) Rehabilitation Program (website)
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies (website)
A Safety and Efficacy Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301]: treatment and follow up of 3 Italian patients (website)
ADA-GT Development: characterization of MCB AM12/GIADA32 cell line and subclones (website)
Analysis of candidate genetic regions and peptides and metabolites profile in autism (website)
Animal models of neuroferritinopathies for the study of the role of iron in neurodegeneration (website)
Bad gene, good gene: a recessive APP mutation can be both. New therapeutic perspective for Alzheimer’s disease based on an Abeta variant with dominant-negative effect on amyloidogenesis (website)
Cell Line And Dna Bank Of Paediatric Movement Disorders (website)
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models (website)
Combined enzyme enhancement therapy (EET) and enzyme replacement therapy (ERT) in patients with Pompe disease (website)
Construction of a database for a nation-wide italian collaborative network of mitochondrial diseases (website)
Defining the molecular signature of muscle wasting. Identification of therapeutic targets to counterat muscle degeneration (website)
Determination of the function of the Angelman Syndrome UBE3A Ubiquitin Ligase (website)
Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons (website)
Development of new strategies for the treatment of Primary Hyperoxaluria Type I (website)
Experimental gene therapy of Duchenne Muscular Dystrophy by artificial transcription factors upregulating the dystrophin-related gene Utrophin (website)
Fatal familial insomnia: preventive treatment with doxycycline of at risk individuals (website)
Functional, Behavioral And Genetic Study To Understand The Pathogenetic Role Of Rab And Rab-Associated Proteins In Human Mental Retardation (website)
Hemoglobin Production in Betal-Thalassemia Erythroid Cells Following Alteration of Biomolecular Pathways Regulating Globin Gene Expression (website)
Hereditary chloride channelopathies of skeletal muscle and kidney: From genotype to phenotype and novel pharmacotherapeutical approaches (website)
Identification of genetic, electroanatomical and structural predictors of malignant ventricular arrhythmias in patients with Brugada syndrome (website)
Identification of new disease-causing genes in hereditary spastic paraplegia (website)
Identification of new disease-causing genes in hereditary spastic paraplegia (website)
Identification of Novel Strategies to Correct the Chloride Transport Defect (website)
Identification of the mechanisms leading to defective platelet function and impaired megathrombocytopoiesis in a novel Glanzmann’s variant hereditary macrothrombocytopenia (D673-E712del) (website)
Improving the diagnostic accuracy of a neonatal screening protocol for Cystic Fibrosis: choice of the optimal thresholds for the blood level of immunoreactive trypsin (IRT) (website)
Inherited defects in DNA damage signaling causing neuronal degeneration: understanding the mechanisms (website)
Insulin-like growth factor 1/Akt and androgen signaling crosstalk in the pathogenesis of spinal and bulbar muscular atrophy (website)
Interneuronal dysfunction in genetic epilepsies: insights from a mouse model of severe myoclonic epilepsy of infancy (SMEI) (website)
Mechanisms of reactivation of the FMR1 gene and analysis of pathways involved in the pathogenesis of fragile X syndrome: towards a drug-based therapy (website)
MeCP2 phosphorylation and related kinases in Rett syndrome and early infantile epileptic encephalopathy 2 (website)
Modulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies (website)
Molecular Bases of Noonan Syndrome and Related Disorders (website)
Molecular functions of Ubiad1, a gene product associated to Schnyder Crystalline Corneal Dystrophy (website)
Naples Human Mutation Gene Biobank (Nhmgbb): A Data And Samples Resource Of Neuromuscular Disorders For A Worldwide Collaboration (website)
New diagnostic and therapeutic approaches for the Crigler-Najjar Syndrome Type I (website)
Novel strategies to cure hereditary hemochromatosis through modulation of the BMP/SMAD pathway regulating the iron hormone hepcidin (website)
Outcome measures in Duchenne muscular dystrophy: validation of the pediatric quality of life inventorytm neuromuscular module in the Italian population and correlation with other functional assessments (website)
Pathogenetic mechanisms of familial Parkinson’s disease: wt and A30P alpha-synucleins affect the structure of microfilaments and intermediate filaments. Pathways and effects on cytoskeletal dynamics (website)
Peripheral blood gene expression profiling of LRRK2 and Parkin monogenic forms of Parkinson’s disease for disease assessment (website)
PINK1, mutated in autosomal recessive Parkinson’s disease, interacts with the proautophagic protein Beclin1 and its antiapoptotic partner Bcl-xL: unraveling the significance of these interactions at the crossroad of multiple neuroprotective pathways (website)
Role Of Chromatin Remodeling In Stem Cell Identity And Epigenetic Memory Switch Occurring In Tissue Regeneration (website)
Role of Diacylglycerol kinase alpha in SAP function: implications for T-cell mediated immune response in XLP (X-linked lymphoproliferative disease) patients and as possible pharmacological target for XLP treatment (website)
Role of GABAA-receptor mutations in idiopathic generalized epilepsy: a developmental study (website)
Role of mitochondrial dynamic and autophagy in the segregation of mutant mtDNA (website)
Set up of experimental models of alkaptonuria and preclinical testing of therapeutic agents for the treatment of ochronotic arthropathy (website)
Structure-function studies on 24-dehydrocholesterol reductase, the affected enzyme in desmosterolosis, a severe inherited disorder of sterol metabolism (website)
Studies of familial hemiplegic migraine transgenic mouse models and patients to investigate the crosstalk between sensory neurons and neuroinflammatory cells in trigeminal ganglia in relation to migraine pain (website)
Therapeutic strategies to combat mitochondrial disorders (website)
