Rete delle biobanche genetiche Telethon

Pubblicazioni Scientifiche

• ACTA NEUROPATHOLOGICA

  Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

• ACTA NEUROPATHOLOGICA

  CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

• ACTA NEUROPATHOLOGICA

  Collagen VI is required for the structural and functional integrity of the neuromuscular junction

• ACTA NEUROPATHOLOGICA COMMUNICATIONS

  Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

• ACTA NEUROPATHOLOGICA COMMUNICATIONS

  Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

• ACTA NEUROPATHOLOGICA COMMUNICATIONS

  Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

• ACTA NEUROPATHOLOGICA COMMUNICATIONS

  Evaluation of aggrephagy markers in myofibrillar myopathies

• AMERICAN JOURNAL OF CARDIOLOGY

  Significance of Sarcomere Gene Mutations Analysis in the End-Stage Phase of Hypertrophic Cardiomyopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

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

• AMERICAN JOURNAL OF HUMAN GENETICS

  ELOVLS Mutations Cause Spinocerebellar Ataxia 38

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

• AMERICAN JOURNAL OF HUMAN GENETICS

  COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

• AMERICAN JOURNAL OF HUMAN GENETICS

  RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

  ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

• AMERICAN JOURNAL OF HUMAN GENETICS

  De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

• AMERICAN JOURNAL OF HUMAN GENETICS

  BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

• AMERICAN JOURNAL OF HUMAN GENETICS

  Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

• AMERICAN JOURNAL OF HUMAN GENETICS

  GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

• AMERICAN JOURNAL OF HUMAN GENETICS

  Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

• AMERICAN JOURNAL OF HUMAN GENETICS

  Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

• AMERICAN JOURNAL OF HUMAN GENETICS

  MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy

• AMERICAN JOURNAL OF HUMAN GENETICS

  Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  9q31.1q31.3 Deletion in Two Patients With Similar Clinical Features: A Newly Recognized Microdeletion Syndrome?

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Clinical Findings in a Patient with FARS2 Mutations and Early-Infantile-Encephalopathy with Epilepsy

• AMERICAN JOURNAL OF PATHOLOGY

  Elevated Expression of Moesin in Muscular Dystrophies

• AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

  Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

• ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

  P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

• ANNALS OF NEUROLOGY

  Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

• ANNALS OF NEUROLOGY

  DNAJC12 and dopa-responsive nonprogressive parkinsonism

• AUTOPHAGY

  Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

• AUTOPHAGY

  Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Novel FAM126A mutations in hypomyelination and congenital cataract disease

• BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

  New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

• BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS

  Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Unusual splice site mutations disrupt FANCA exon 8 definition

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Bioenergetic and proteolytic defects in fibroblasts from patients with sporadic Parkinson's disease

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Lipolysis and lipophagy in lipid storage myopathies

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

• BIOCHIMIE

  Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A

• BIOCHIMIE

  Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients

• BIOMEDICINES

  Role of Endothelial Regeneration and Overloading of Enterocytes with Lipids in Capturing of Lipoproteins by Basement Membrane of Rat Aortic Endothelium

• BLOOD CELLS MOLECULES AND DISEASES

  UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease

• BMC GENOMICS

  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

• BMC MEDICAL GENETICS

  Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

• BMC MEDICAL GENETICS

  A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

• BMC MEDICAL GENOMICS

  Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-κB in the pathogenesis of Down syndrome

• BMC MEDICAL GENOMICS

  Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

• BMC NEPHROLOGY

  Non-collagen genes role in digenic Alport syndrome

• BMC NEUROLOGY

  ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

• BRAIN

  Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

• BRAIN

  Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

• BRAIN

  Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice

• BRAIN

  Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity

• BRAIN & DEVELOPMENT

  Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

• BRAIN & DEVELOPMENT

  Coffin-Sins and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability

• BRAIN & DEVELOPMENT

  Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

• BRAIN PATHOLOGY

  Protective role of Angiogenin in muscle regeneration in amyotrophic lateral sclerosis: Diagnostic and therapeutic implications

• BRAIN RESEARCH

  How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

• BRITISH JOURNAL OF HAEMATOLOGY

  Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

• BRITISH JOURNAL OF HAEMATOLOGY

  Altered lipid metabolism could drive the bone marrow failure in fanconi anaemia

• CANCER CELL INTERNATIONAL

  PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis

• CANCER LETTERS

  Collagen type V promotes the malignant phenotype of pancreatic ductal adenocarcinoma

• CELL

  A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy

• CELL

  A Conserved Circular Network of Coregulated Lipids Modulates Innate Immune Responses

• CELL AND TISSUE RESEARCH

  Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents

• CELL DEATH & DISEASE

  Chronic inhibition of the mitochondrial ATP synthase in skeletal muscle triggers sarcoplasmic reticulum distress and tubular aggregates

• CELL DEATH AND DIFFERENTIATION

  The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

• CELL DEATH AND DIFFERENTIATION

  GRP78 clustering at the cell surface of neurons transduces the action of exogenous alpha-synuclein

• CELL DEATH AND DIFFERENTIATION

  AMBRA1 is able to induce mitophagy via LC3 binding, regardless of PARKIN and p62/SQSTM1

• CELL METABOLISM

  Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

• CELL METABOLISM

  Two independent respiratory chains adapt OXPHOS performance to glycolytic switch

• CELL REPORTS

  TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

• CELL REPORTS

  Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

• CELL REPORTS

  Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

• CELL REPORTS

  Engineering an Environment for the Study of Fibrosis: A 3D Human Muscle Model with Endothelium Specificity and Endomysium

• CELLULAR AND MOLECULAR LIFE SCIENCES

  Protein O-mannosylation is crucial for human mesencyhmal stem cells fate

• CHEMBIOCHEM

  Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease

• CIRCULATION RESEARCH

  Genetic Analysis Reveals a Longevity-Associated Protein Modulating Endothelial Function and Angiogenesis

• CLINICAL AND TRANSLATIONAL ALLERGY

  Human in vitro induced T regulatory cells and memory T cells share common demethylation of specific FOXP3 promoter region

• CLINICAL BIOCHEMISTRY

  Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients

• CLINICAL DYSMORPHOLOGY

  Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

• CLINICAL DYSMORPHOLOGY

  Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy

• CLINICAL GENETICS

  Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

• CLINICAL GENETICS

  Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

• CLINICAL GENETICS

  Mutation identification of Fabry disease in families with other lysosomal storage disorders

• CLINICAL GENETICS

  Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

• CLINICAL GENETICS

  Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

• CLINICAL GENETICS

  Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

• CLINICAL GENETICS

  Alport syndrome: impact of digenic inheritance in patients management

• CLINICAL GENETICS

  Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

• CLINICAL NEUROPATHOLOGY

  Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients

• CLINICAL NEUROPATHOLOGY

  Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS

• DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

  Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

• ELIFE

  Potassium dependent rescue of a myopathy with core-like structures in mouse

• ELIFE

  Unravelling druggable signalling networks that control F508del-CFTR proteostasis

• ELIFE

  A 3D culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction

• EMBO MOLECULAR MEDICINE

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

• EMBO MOLECULAR MEDICINE

  A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

• EMBO MOLECULAR MEDICINE

  Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

• EMBO MOLECULAR MEDICINE

  Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

• EMBO MOLECULAR MEDICINE

  Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions

• EMBO MOLECULAR MEDICINE

  Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

• EMBO MOLECULAR MEDICINE

  Trans-generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy

• EMBO MOLECULAR MEDICINE

  Combinatorial activation of the WNT-dependent fibrogenic program by distinct complement subunits in dystrophic muscle

• EPIGENETICS

  Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

• EUROPEAN JOURNAL OF HAEMATOLOGY

  A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Functional analysis of 11 novel GBA alleles

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

• EUROPEAN JOURNAL OF HUMAN GENETICS

  SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

• EUROPEAN JOURNAL OF HUMAN GENETICS

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

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/- patients and in foxg1+/- mice

• EUROPEAN JOURNAL OF HUMAN GENETICS

  ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

• EUROPEAN JOURNAL OF HUMAN GENETICS

  The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

• EUROPEAN JOURNAL OF HUMAN GENETICS

  New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Association of Haptoglobin-1 allele with Autism

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Biallelic missense and deep intronic NDUFAF6 variants, unraveled by exome sequencing and mRNA analysis, in patients with Leigh syndrome

• EUROPEAN JOURNAL OF MEDICAL GENETICS

  Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

• EUROPEAN JOURNAL OF NEUROLOGY

  No association of GBA mutations and multiple system atrophy

• EUROPEAN JOURNAL OF NEUROLOGY

  The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report

• EUROPEAN JOURNAL OF NEUROLOGY

  No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

• EUROPEAN JOURNAL OF NEUROLOGY

  Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

• EUROPEAN JOURNAL OF NEUROLOGY

  New FIG4 gene mutations causing aggressive ALS

• EUROPEAN JOURNAL OF NEUROLOGY

  Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region

• EUROPEAN JOURNAL OF NEUROLOGY

  Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy

• EUROPEAN JOURNAL OF NEUROLOGY

  Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients

• EUROPEAN JOURNAL OF NEUROLOGY

  Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen

• EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

  A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

• EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

  Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

• EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

  DYT2 screening in early-onset isolated dystonia

• EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

  The relevance of gene panels in movement disorders diagnosis: A lab perspective

• EUROPEAN JOURNAL OF PEDIATRICS

  SEPN1-related myopathy in three patients: novel mutations and diagnostic clues

• EXPERIMENTAL CELL RESEARCH

  iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

• EXPERIMENTAL PHYSIOLOGY

  Striated muscle activator of Rho signalling (STARS) overexpression in the mdx mouse enhances muscle functional capacity and regulates the actin cytoskeleton and oxidative phosphorylation pathways

• FASEB JOURNAL

  Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models

• FREE RADICAL BIOLOGY AND MEDICINE

  Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

• FRONTIERS IN ENDOCRINOLOGY

  An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

• FRONTIERS IN GENETICS

  Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

• FRONTIERS IN GENETICS

  Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)

• FRONTIERS IN GENETICS

  Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells

• FRONTIERS IN GENETICS

  FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

• FRONTIERS IN GENETICS

  A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

• FRONTIERS IN MOLECULAR NEUROSCIENCE

  The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP plus Treatment by Altering LRRK2 Binding to DRP1

• FRONTIERS IN NEUROLOGY

  The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease

• FRONTIERS IN PHARMACOLOGY

  Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

• GENE

  Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation

• GENE

  Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

• GENESIS

  Mutation Studies in Ascidians: A Review

• GENETICS IN MEDICINE

  Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

• GENETICS IN MEDICINE

  Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

• HAEMATOLOGICA

  Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

• HEMOGLOBIN

  ANNOTATED DEFINITION OF BCL11A AND HMIP-2 HAPLOTYPES THROUGH THE ANALYSIS OF SICILIAN β-THALASSEMIA PATIENTS WITH HIGH LEVELS OF FETAL HEMOGLOBIN

• HUMAN GENETICS

  Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

• HUMAN GENETICS

  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy

• HUMAN GENETICS

  Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

• HUMAN MOLECULAR GENETICS

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

• HUMAN MOLECULAR GENETICS

  A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

• HUMAN MOLECULAR GENETICS

  A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

• HUMAN MOLECULAR GENETICS

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

• HUMAN MOLECULAR GENETICS

  Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

• HUMAN MOLECULAR GENETICS

  Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling

• HUMAN MOLECULAR GENETICS

  Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

• HUMAN MOLECULAR GENETICS

  Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

• HUMAN MOLECULAR GENETICS

  SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells

• HUMAN MOLECULAR GENETICS

  SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

• HUMAN MOLECULAR GENETICS

  Effect of diazoxide on Friedreich ataxia models

• HUMAN MOLECULAR GENETICS

  FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

• HUMAN MOLECULAR GENETICS

  Natural history of KBG syndrome in a large European cohort

• HUMAN MUTATION

  Gaucher Disease Paradigm: From ERAD to Comorbidity

• HUMAN MUTATION

  MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

• HUMAN MUTATION

  TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

• HUMAN MUTATION

  VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

• HUMAN MUTATION

  Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

• HUMAN MUTATION

  A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

• HUMAN MUTATION

  Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

• HUMAN MUTATION

  A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

• HUMAN MUTATION

  Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

• HUMAN MUTATION

  Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy

• HUMAN MUTATION

  SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

• HUMAN MUTATION

  Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

• HUMAN MUTATION

  Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

• HUMAN MUTATION

  ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

• HUMAN MUTATION

  In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

• HUMAN MUTATION

  Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

• HUMAN MUTATION

  Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

• HUMAN MUTATION

  A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

• HUMAN MUTATION

  Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

• HUMAN MUTATION

  Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing

• HUMAN MUTATION

  TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

• IMMUNOLOGY LETTERS

  Mesenchymal stromal cells and hematopoietic stem cell transplantation

• INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

  Trefoil Factor 1 is involved in gastric cell copper homeostasis

• INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

  Galactocerebrosidase deficiency induces an increase in lactosylceramide content: A new hallmark of Krabbe disease?

• INTERNATIONAL JOURNAL OF CARDIOLOGY

  Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

• INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

  Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

• INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

  DNA damage response defect in Williams-Beuren syndrome

• INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

  Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

• INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

  Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

• INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

  Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

• INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

  Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles

• INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

  Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy

• INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

  Impaired Autophagy in Krabbe Disease: The Role of BCL2 and Beclin-1 Phosphorylation

• ITALIAN JOURNAL OF PEDIATRICS

  Congenital myopathies: clinical phenotypes and new diagnostic tools

• JAMA NEUROLOGY

  Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

• JAMA NEUROLOGY

  Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis Neurofilament Light Chain Levels in Definite Subtypes of Disease

• JAMA PSYCHIATRY

  Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

• JOURNAL OF APPLIED GENETICS

  Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH

• JOURNAL OF APPLIED GENETICS

  First-trimester euploid miscarriages analysed by array-CGH

• JOURNAL OF BIOLOGICAL CHEMISTRY

  Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease

• JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

  Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy

• JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

  Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease

• JOURNAL OF CELLULAR PHYSIOLOGY

  Inhibition of Metalloproteinase Activity in FANCA Is Linked to Altered Oxygen Metabolism

• JOURNAL OF CELLULAR PHYSIOLOGY

  HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles

• JOURNAL OF CHILD NEUROLOGY

  A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset

• JOURNAL OF CLINICAL INVESTIGATION

  Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

• JOURNAL OF CLINICAL INVESTIGATION

  Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I

• JOURNAL OF CLINICAL INVESTIGATION

  Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

• JOURNAL OF CYSTIC FIBROSIS

  Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016

• JOURNAL OF EXPERIMENTAL MEDICINE

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

• JOURNAL OF EXPERIMENTAL MEDICINE

  EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

• JOURNAL OF GENE MEDICINE

  Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy

• JOURNAL OF HUMAN GENETICS

  MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

• JOURNAL OF HUMAN GENETICS

  Norrbottnian clinical variant of Gaucher disease in Southern Italy

• JOURNAL OF INHERITED METABOLIC DISEASE

  Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

• JOURNAL OF INHERITED METABOLIC DISEASE

  Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism

• JOURNAL OF MEDICAL GENETICS

  Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome

• JOURNAL OF MEDICAL GENETICS

  Evidence of digenic inheritance in Alport syndrome

• JOURNAL OF MEDICAL GENETICS

  A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

• JOURNAL OF MEDICAL GENETICS

  Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

• JOURNAL OF MEDICAL GENETICS

  A specific mutation in TBL1XR1 causes Pierpont syndrome

• JOURNAL OF MEDICAL GENETICS

  COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

• JOURNAL OF MOLECULAR DIAGNOSTICS

  A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

• JOURNAL OF MOLECULAR NEUROSCIENCE

  Do Tardive Dyskinesia and Dopa Induced Dyskinesia Share Common Genetic Risk Factors? An Exploratory Study

• JOURNAL OF MOLECULAR NEUROSCIENCE

  New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

• JOURNAL OF NANOSCIENCE AND NANOTECHNOLOGY

  Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts

• JOURNAL OF NEUROLOGY

  Screening LRRK2 gene mutations in patients with Parkinson's disease in Ghana

• JOURNAL OF NEUROLOGY

  EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

• JOURNAL OF NEUROLOGY

  Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

• JOURNAL OF NEUROLOGY

  The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

• JOURNAL OF NEUROLOGY

  TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

• JOURNAL OF NEUROLOGY

  Genetic modifiers of upper limb function in Duchenne muscular dystrophy

• JOURNAL OF NEUROLOGY

  Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

• JOURNAL OF NEUROMUSCULAR DISEASES

  The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy

• JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

• JOURNAL OF NEUROSCIENCE

  Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity

• JOURNAL OF PATHOLOGY

  Autocrine and immune cell-derived BDNF in human skeletal muscle: implications for myogenesis and tissue regeneration

• JOURNAL OF PATHOLOGY

  Mitochondrial dysfunction and role of harakiri in the pathogenesis of myositis

• JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

  Successful Use of Long-Acting Octreotide for Intractable Chronic Gastrointestinal Bleeding in Children

• JOURNAL OF THE AMERICAN HEART ASSOCIATION

  Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Micro-RNAs in ALS muscle: Differences in gender, age at onset and disease duration

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy

• JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS

  Kabuki syndrome and rare tumors in a young girl carrying a frameshift KMT2D mutation

• JOURNAL OF VASCULAR ACCESS

  Central venous access devices in pediatric malignancies: a position paper of Italian Association of Pediatric Hematology and Oncology

• LEUKEMIA

  Sirolimus-based graft-versus-host disease prophylaxis promotes the in vivo expansion of regulatory T cells and permits peripheral blood stem cell transplantation from haploidentical donors

• LIFE SCIENCES

  Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients

• LYSOSOMES AND LYSOSOMAL DISEASES

  TFEB and the CLEAR network

• MATRIX BIOLOGY

  Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

• MEDICINE

  A case report with the peculiar concomitance of 2 different genetic syndromes

• METABOLIC BRAIN DISEASE

  A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

• METHODS FOR ANALYSIS OF GOLGI COMPLEX FUNCTION

  Golgi-Dependent Signaling: Self-Coordination of Membrane Trafficking

• MOLECULAR & CELLULAR PROTEOMICS

  Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation

• MOLECULAR AND CELLULAR BIOCHEMISTRY

  Novel protein-protein interactions of TPPII, p53, and SIRT7

• MOLECULAR AND CELLULAR BIOLOGY

  Novel Long Noncoding RNAs (lncRNAs) in Myogenesis: a miR-31 Overlapping lncRNA Transcript Controls Myoblast Differentiation

• MOLECULAR BIOLOGY OF THE CELL

  Cross-talk between androgen receptor/filamin A and TrkA regulates neurite outgrowth in PC12 cells

• MOLECULAR CYTOGENETICS

  Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

• MOLECULAR CYTOGENETICS

  Investigating the role of X chromosome breakpoints in premature ovarian failure

• MOLECULAR GENETICS & GENOMIC MEDICINE

  Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology

• MOLECULAR GENETICS AND METABOLISM

  Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients

• MOLECULAR GENETICS AND METABOLISM

  Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

• MOLECULAR GENETICS AND METABOLISM

  MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease

• MOLECULAR GENETICS AND METABOLISM

  Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

• MOLECULAR GENETICS AND METABOLISM REPORTS

  Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

• MOLECULAR THERAPY

  Exon 45 Skipping Through U1-snRNA Antisense Molecules Recovers the Dys-nNOS Pathway and Muscle Differentiation in Human DMD Myoblasts

• MOLECULAR THERAPY

  Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

• MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT

  Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses

• MOLECULAR THERAPY-NUCLEIC ACIDS

  Targeted Myostatin Gene Editing in Multiple Mammalian Species Directed by a Single Pair of TALE Nucleases

• MOLECULES

  Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

• MOVEMENT DISORDERS

  The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

• MOVEMENT DISORDERS

  Myoclonus in Mitochondrial Disorders

• MOVEMENT DISORDERS

  Alpha-Synuclein Repeat Variants and Survival in Parkinson's Disease

• MOVEMENT DISORDERS

  LRRK2-G2019S Mutation Is Not Associated With an Increased Cancer Risk: A Kin-Cohort Study

• MOVEMENT DISORDERS

  Penetrance Estimate of LRRK2 p.G2019S Mutation in Individuals of Non-Ashkenazi Jewish Ancestry

• MOVEMENT DISORDERS

  Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine

• MUSCLE & NERVE

  MUSCLE ATROPHY, UBIQUITIN-PROTEASOME, AND AUTOPHAGIC PATHWAYS IN DYSFERLINOPATHY

• MUSCLE & NERVE

  DOMINANT MUSCULAR DYSTROPHY WITH A NOVEL SYNE1 GENE MUTATION

• MUSCLE & NERVE

  NEXT GENERATION SEQUENCING DETECTION OF LATE ONSET POMPE DISEASE

• MUSCLE & NERVE

  The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

• MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

  Defective DNA repair and increased chromatin binding of DNA repair factors in Down syndrome fibroblasts

• NANOSCALE

  Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I

• NATURE CELL BIOLOGY

  The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

• NATURE COMMUNICATIONS

  iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis

• NATURE COMMUNICATIONS

  A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder

• NATURE COMMUNICATIONS

  The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

• NATURE COMMUNICATIONS

  Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

• NATURE COMMUNICATIONS

  mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

• NATURE COMMUNICATIONS

  Genetic diagnosis of Mendelian disorders via RNA sequencing

• NATURE COMMUNICATIONS

  Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

• NATURE COMMUNICATIONS

  Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle

• NATURE COMMUNICATIONS

  Immunoproteasome-specific subunit PSMB9 induction is required to regulate cellular proteostasis upon mitochondrial dysfunction

• NATURE GENETICS

  7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

• NATURE GENETICS

  NANS-mediated synthesis of sialic acid is required for brain and skeletal development

• NATURE MEDICINE

  STAT3 signaling controls satellite cell expansion and skeletal muscle repair

• NATURE METHODS

  High-efficiency cellular reprogramming with microfluidics

• NATURE PROTOCOLS

  Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells

• NEUROBIOLOGY OF AGING

  Analysis of vesicular monoamine transporter 2 polymorphisms in Parkinson's disease

• NEUROBIOLOGY OF AGING

  C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

• NEUROBIOLOGY OF AGING

  Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants

• NEUROBIOLOGY OF AGING

  The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

• NEUROBIOLOGY OF AGING

  Mutational analysis of COQ2 in patients with MSA in Italy

• NEUROBIOLOGY OF AGING

  Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

• NEUROBIOLOGY OF AGING

  ATXN2 trinucleotide repeat length correlates with risk of ALS

• NEUROBIOLOGY OF DISEASE

  Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

• NEUROBIOLOGY OF DISEASE

  Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

• NEUROGENETICS

  A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

• NEUROGENETICS

  An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

• NEUROGENETICS

  Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

• NEUROGENETICS

  Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

• NEUROLOGICAL SCIENCES

  Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure

• NEUROLOGICAL SCIENCES

  Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA

• NEUROLOGY

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

• NEUROLOGY

  Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

• NEUROLOGY

  Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

• NEUROLOGY

  Novel (ovario) leukodystrophy related to AARS2 mutations

• NEUROLOGY

  Novel CLN3 mutation causing autophagic vacuolar myopathy

• NEUROLOGY

  Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

• NEUROLOGY

  Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

• NEUROLOGY

  A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

• NEUROLOGY

  Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

• NEUROLOGY

  Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

• NEUROLOGY

  The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

• NEUROLOGY

  A genome-wide association study in multiple system atrophy

• NEUROLOGY

  The clinical spectrum of CASQ1-related myopathy

• NEUROLOGY

  Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

• NEUROLOGY-GENETICS

  Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

• NEUROMUSCULAR DISORDERS

  Fatigue in muscular dystrophies

• NEUROMUSCULAR DISORDERS

  A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family

• NEUROMUSCULAR DISORDERS

  Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy

• NEUROMUSCULAR DISORDERS

  Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

• NEUROMUSCULAR DISORDERS

  Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

• NEUROMUSCULAR DISORDERS

  TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

• NEUROMUSCULAR DISORDERS

  Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

• NEUROMUSCULAR DISORDERS

  Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Familial polyglucosan body myopathy with unusual phenotype

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

• NEUROPEDIATRICS

  Magnetic Resonance Imaging "Tigroid Pattern" in Alexander Disease

• NEUROPEDIATRICS

  Inferior Olivary Nucleus Involvement in Pediatric Neurodegenerative Disorders: Does It Play a Role in Neuroimaging Pattern-Recognition Approach?

• NEUROSCIENCE LETTERS

  DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

• NPJ PARKINSONS DISEASE

  LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease

• NUCLEIC ACIDS RESEARCH

  AOC 1044 induces exon 44 skipping and restores dystrophin protein in preclinical models of Duchenne muscular dystrophy

• NUCLEUS

  Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

• ONCOGENE

  Circ-ZNF609 regulates G1-S progression in rhabdomyosarcoma

• ONCOTARGET

  The 5′-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding

• ONCOTARGET

  Human α-L-fucosidase-1 attenuates the invasive properties of thyroid cancer

• ONCOTARGET

  The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences

• ORPHANET JOURNAL OF RARE DISEASES

  Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

• ORPHANET JOURNAL OF RARE DISEASES

  Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

• ORPHANET JOURNAL OF RARE DISEASES

  Galactosialidosis: review and analysis of CTSA gene mutations

• ORPHANET JOURNAL OF RARE DISEASES

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

• ORPHANET JOURNAL OF RARE DISEASES

  Unfolded protein response in Gaucher disease: from human to Drosophila

• ORPHANET JOURNAL OF RARE DISEASES

  Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

• ORPHANET JOURNAL OF RARE DISEASES

  Genotype-phenotype correlation in Pompe disease, a step forward

• ORPHANET JOURNAL OF RARE DISEASES

  MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

• ORPHANET JOURNAL OF RARE DISEASES

  The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

• ORPHANET JOURNAL OF RARE DISEASES

  Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force

• ORPHANET JOURNAL OF RARE DISEASES

  Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

• PARKINSONISM & RELATED DISORDERS

  Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: Gene and smoking status interaction

• PARKINSONISM & RELATED DISORDERS

  LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population

• PARKINSONISM & RELATED DISORDERS

  Glucocerebrosidase mutations in primary parkinsonism

• PARKINSONISM & RELATED DISORDERS

  TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study

• PARKINSONISM & RELATED DISORDERS

  Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

• PARKINSONISM & RELATED DISORDERS

  Tryptophan hydroxylase type 2 variants modulate severity and outcome of addictive behaviors in Parkinson's disease

• PARKINSONISM & RELATED DISORDERS

  ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

• PEDIATRIC NEUROLOGY

  Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy

• PIGMENT CELL & MELANOMA RESEARCH

  The CDKN2A/p16INK4a 5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

• PLOS ONE

  Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

• PLOS ONE

  A Rapid and Sensitive Method for Measuring N-Acetylglucosaminidase Activity in Cultured Cells

• PLOS ONE

  Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

• PLOS ONE

  Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40

• PLOS ONE

  Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock

• PLOS ONE

  Treatment of FANCA Cells with Resveratrol and N-Acetylcysteine: A Comparative Study

• PLOS ONE

  4-Phenylbutyrate Attenuates the ER Stress Response and Cyclic AMP Accumulation in DYT1 Dystonia Cell Models

• PLOS ONE

  Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

• PLOS ONE

  A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

• PLOS ONE

  Fluorogenic Substrates for Visualizing Acidic Organelle Enzyme Activities

• PLOS ONE

  Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry

• PLOS ONE

  Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development

• PLOS ONE

  OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

• PLOS PATHOGENS

  Modulation of host central carbon metabolism and in situ glucose uptake by intracellular Trypanosoma cruzi amastigotes

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties

• RNA BIOLOGY

  Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1

• SCIENCE

  Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

• SCIENCE ADVANCES

  Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains

• SCIENCE TRANSLATIONAL MEDICINE

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

• SCIENCE TRANSLATIONAL MEDICINE

  Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy (Retracted Article)

• SCIENCE TRANSLATIONAL MEDICINE

  Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice

• SCIENTIFIC REPORTS

  Dysregulated Ca2+ Homeostasis in Fanconi anemia cells

• SCIENTIFIC REPORTS

  Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

• SCIENTIFIC REPORTS

  Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

• SCIENTIFIC REPORTS

  Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

• SCIENTIFIC REPORTS

  The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

• SCIENTIFIC REPORTS

  Muscle MRI and functional outcome measures in Becker muscular dystrophy

• SCIENTIFIC REPORTS

  Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study

• SCIENTIFIC REPORTS

  Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease

• SCIENTIFIC REPORTS

  Correction of exon 2, exon 2-9 and exons 8-9 duplications in DMD patient myogenic cells by a single CRISPR/Cas9 system

• SEMINARS IN PEDIATRIC NEUROLOGY

  C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

• SKELETAL MUSCLE

  PGC-1α modulates denervation-induced mitophagy in skeletal muscle

• STEM CELL REPORTS

  Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models

• STEM CELL RESEARCH

  Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene

• STEM CELL RESEARCH

  Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation

• STEM CELL RESEARCH

  Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease

• STEM CELL RESEARCH

  Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's disease

• STEM CELL RESEARCH

  Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene

• STEM CELL RESEARCH

  Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

• STEM CELL RESEARCH

  Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

• STEM CELL RESEARCH

  Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

• STEM CELL RESEARCH

  Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene

• STEM CELL RESEARCH

  Generation ofan induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method

• STEM CELL RESEARCH

  Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

• STEM CELL REVIEWS AND REPORTS

  Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders

• STEM CELLS

  Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

• STEM CELLS TRANSLATIONAL MEDICINE

  Rapid Generation of Functional Dopaminergic Neurons From Human Induced Pluripotent Stem Cells Through a Single-Step Procedure Using Cell Lineage Transcription Factors

• STEM CELLS TRANSLATIONAL MEDICINE

  Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy

• THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS

  Therapeutic advances in the management of Pompe disease and other metabolic myopathies

• TOXICOLOGY IN VITRO

  Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients

• TRANSLATIONAL PSYCHIATRY

  Benchmarking brain organoid recapitulation of fetal corticogenesis