Network di Biobanche Genetiche di Telethon

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  FOXG1 is responsible for the congenital variant of Rett syndrome

• AMERICAN JOURNAL OF HUMAN GENETICS

  The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

• AMERICAN JOURNAL OF HUMAN GENETICS

  Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

• AMERICAN JOURNAL OF HUMAN GENETICS

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

• AMERICAN JOURNAL OF HUMAN GENETICS

  Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

• AMERICAN JOURNAL OF HUMAN GENETICS

  Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

• AMERICAN JOURNAL OF HUMAN GENETICS

  Yunis-Varon Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Joubert Syndrome With Bilateral Polymicrogyria: Clinical and Neuropathological Findings in Two Brothers

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Identification of a SUFU Germline Mutation in a Family With Gorlin Syndrome

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Syndromic Mental Retardation With Thrombocytopenia Due to 21q22.11q22.12 Deletion: Report of Three Patients

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability

• AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

  The Refinement of the Critical Region for the 2q31.2q32.3 Deletion Syndrome Indicates Candidate Genes for Mental Retardation and Speech Impairment

• AMERICAN JOURNAL OF PATHOLOGY

  Inhibition of proteasome activity promotes the correct localization of disease-causing α-sarcoglycan mutants in HEK-293 cells constitutively expressing β-, γ-, and δ-sarcoglycan

• AMYOTROPHIC LATERAL SCLEROSIS

  Natural history of upper motor neuron-dominant ALS

• AMYOTROPHIC LATERAL SCLEROSIS

  Parkinson-like features in ALS with predominant upper motor neuron involvement

• ANALYTICAL BIOCHEMISTRY

  A high-throughput screening assay using Krabbe disease patient cells

• ANALYTICAL CELLULAR PATHOLOGY

  Differential signature of the centrosomal MARK4 isoforms in glioma

• ANNALS OF NEUROLOGY

  SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy

• ANNALS OF NEUROLOGY

  Single-Cell Expression Profiling of Dopaminergic Neurons Combined with Association Analysis Identifies Pyridoxal Kinase as Parkinson's Disease Gene

• ANNALS OF NEUROLOGY

  The PDXK rs2010795 Variant Is Not Associated with Parkinson Disease in Italy

• ANNALS OF NEUROLOGY

  Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

• ARCHIVES OF NEUROLOGY

  Screening for the Presence of FMR1 Premutation Alleles in Women With Parkinsonism

• ARCHIVES OF NEUROLOGY

  Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

• ARCHIVES OF NEUROLOGY

  Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

• BIOCHEMICAL JOURNAL

  Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy

• BIOCHEMICAL JOURNAL

  Deficit of complex I activity in human skin fibroblasts with chromosome 21 trisomy and overproduction of reactive oxygen species by mitochondria: involvement of the cAMP/PKA signalling pathway

• BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

  Identification of novel mutations in five patients with mitochondrial encephalomyopathy

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

• BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Epigallocatechin-3-gallate prevents oxidative phosphorylation deficit and promotes mitochondrial biogenesis in human cells from subjects with Down's syndrome

• BIOMATERIALS

  Amniotic liquid derived stem cells as reservoir of secreted angiogenic factors capable of stimulating neo-arteriogenesis in an ischemic model

• BIOMATERIALS

  Recruitment of host's progenitor cells to sites of human amniotic fluid stem cells implantation

• BIOMED RESEARCH INTERNATIONAL

  The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

• BLOOD CELLS MOLECULES AND DISEASES

  Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

• BLOOD CELLS MOLECULES AND DISEASES

  Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

• BMC BIOLOGY

  Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

• BMC MEDICAL GENETICS

  Genomewide association study for onset age in Parkinson disease

• BMC MEDICAL GENETICS

  Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

• BMC MEDICINE

  Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

• BMC MUSCULOSKELETAL DISORDERS

  Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

• BMC NEUROLOGY

  POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

• BRAIN & DEVELOPMENT

  Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

• BRAIN & DEVELOPMENT

  Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful?

• BRAIN & DEVELOPMENT

  Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

• BRITISH JOURNAL OF DERMATOLOGY

  Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa

• CANCER CHEMOTHERAPY AND PHARMACOLOGY

  Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation

• CELL

  A Long Noncoding RNA Controls Muscle Differentiation by Functioning as a Competing Endogenous RNA

• CELL AND TISSUE RESEARCH

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

• CELL DEATH & DISEASE

  Autophagy as a new therapeutic target in Duchenne muscular dystrophy

• CELL DEATH AND DIFFERENTIATION

  Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

• CELL METABOLISM

  MicroRNAs Involved in Molecular Circuitries Relevant for the Duchenne Muscular Dystrophy Pathogenesis Are Controlled by the Dystrophin/nNOS Pathway

• CLINICAL CHEMISTRY

  Specific Determination of β-Galactocerebrosidase Activity via Competitive Inhibition of β-Galactosidase

• CLINICAL DYSMORPHOLOGY

  A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development

• CLINICAL GENETICS

  Cardioembolic stroke in Danon disease

• CLINICAL GENETICS

  Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

• CLINICAL GENETICS

  Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations

• CLINICAL GENETICS

  Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

• CLINICAL GENETICS

  Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

• CLINICAL GENETICS

  Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

• CLINICAL GENETICS

  Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

• CLINICAL GENETICS

  Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

• CLINICAL GENETICS

  An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

• CLINICAL GENETICS

  Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters

• CLINICAL NEUROPATHOLOGY

  Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma

• CLINICAL NEUROPHYSIOLOGY

  EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome

• CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS

  Enzyme Replacement Therapy for Pompe Disease

• CURRENT OPINION IN PHARMACOLOGY

  Metabolic myopathies: the challenge of new treatments

• DIFFERENTIATION

  Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein

• DNA AND CELL BIOLOGY

  Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

• EMBO REPORTS

  miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy

• EMBO REPORTS

  RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

• EUROPEAN JOURNAL OF HUMAN GENETICS

  How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

• EUROPEAN JOURNAL OF HUMAN GENETICS

  High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

• EUROPEAN JOURNAL OF HUMAN GENETICS

  iPS cells to model CDKL5-related disorders

• EUROPEAN JOURNAL OF HUMAN GENETICS

  The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

• EUROPEAN JOURNAL OF IMMUNOLOGY

  Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome

• EUROPEAN JOURNAL OF MEDICAL GENETICS

  14q12 Microdeletion syndrome and congenital variant of Rett syndrome

• EUROPEAN JOURNAL OF MEDICAL GENETICS

  A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

• EUROPEAN JOURNAL OF MEDICAL GENETICS

  3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age

• EUROPEAN JOURNAL OF MEDICAL GENETICS

  19q13 microdeletion syndrome: Further refining the critical region

• EUROPEAN JOURNAL OF MEDICAL GENETICS

  Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

• EUROPEAN JOURNAL OF NEUROLOGY

  TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

• EUROPEAN JOURNAL OF NEUROLOGY

  EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

• EUROPEAN JOURNAL OF NEUROLOGY

  Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome

• EUROPEAN JOURNAL OF NEUROLOGY

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

• EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

  Anti-N-Methyl-D-aspartate-receptor encephalitis: Cognitive profile in two children

• EXPERIMENTAL CELL RESEARCH

  Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis

• FAMILIAL CANCER

  Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome

• FASEB JOURNAL

  Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy

• FASEB JOURNAL

  Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

• FEBS JOURNAL

  New insights into redox response modulation in Fanconi's anemia cells by hydrogen peroxide and glutathione depletors

• FEBS JOURNAL

  New insights into the pathobiology of Down syndrome hyaluronan synthase-2 overexpression is regulated by collagen VI 2 chain

• GENETIC TESTING AND MOLECULAR BIOMARKERS

  Sequence Variations in Mitochondrial Ferritin: Distribution in Healthy Controls and Different Types of Patients

• GENETICS IN MEDICINE

  SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

• HISTOPATHOLOGY

  Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis

• HUMAN GENETICS

  Replication of association between ELAVL4 and Parkinson disease:: the GenePD study

• HUMAN GENETICS

  Genomewide association study for susceptibility genes contributing to familial Parkinson disease

• HUMAN MOLECULAR GENETICS

  A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

• HUMAN MOLECULAR GENETICS

  Functional analysis of CDKN2A/p16INK4a 5′-UTR variants predisposing to melanoma

• HUMAN MOLECULAR GENETICS

  Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study

• HUMAN MOLECULAR GENETICS

  Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

• HUMAN MOLECULAR GENETICS

  ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease

• HUMAN MUTATION

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

• HUMAN MUTATION

  Molecular Analysis of ARSA and PSAP Genes in Twenty-one Italian Patients with Metachromatic Leukodystrophy: Identification and Functional Characterization of 11 Novel ARSA Alleles

• HUMAN MUTATION

  Transcriptional Behavior of DMD Gene Duplications in DMD/BMD Males

• HUMAN MUTATION

  Identification and Molecular Characterization of Six Novel Mutations in the UDP-N-Acetylglucosamine-1-Phosphotransferase Gamma Subunit (GNPTG) Gene in Patients with Mucolipidosis III Gamma

• HUMAN MUTATION

  Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls

• HUMAN MUTATION

  Molecular Characterization of 22 Novel UDP-N-Acetylglucosamine-1-Phosphate Transferase α- and β-Subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIα/β and IIIα/β in 46 Patients

• HUMAN MUTATION

  Enigmatic In Vivo Iduronate-2-Sulfatase (IDS) Mutant Transcript Correction to Wild-Type in Hunter Syndrome

• HUMAN MUTATION

  Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations

• HUMAN MUTATION

  Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations

• HUMAN MUTATION

  Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

• HUMAN MUTATION

  IDUA Mutational Profiling of a Cohort of 102 European Patients with Mucopolysaccharidosis Type I: Identification and Characterization of 35 Novel α-L-iduronidase (IDUA) Alleles

• HUMAN MUTATION

  Rett networked database: An integrated clinical and genetic network of rett syndrome databases

• INTEGRATIVE BIOLOGY

  Soft substrates drive optimal differentiation of human healthy and dystrophic myotubes

• JOURNAL OF ALZHEIMERS DISEASE

  The H1 Haplotype of the Tau Gene (MAPT) is Associated with Mild Cognitive Impairment

• JOURNAL OF ALZHEIMERS DISEASE

  VEGF Haplotypes are Associated with Increased Risk to Progressive Supranuclear Palsy and Corticobasal Syndrome

• JOURNAL OF ALZHEIMERS DISEASE

  Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment

• JOURNAL OF ALZHEIMERS DISEASE

  Mutations in MAPT Gene Cause Chromosome Instability and Introduce Copy Number Variations Widely in the Genome

• JOURNAL OF CELL SCIENCE

  TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

• JOURNAL OF CELLULAR PHYSIOLOGY

  Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells

• JOURNAL OF CHILD NEUROLOGY

  Muscular Dystrophy: Central Nervous System α-Dystroglycan Glycosylation Defects and Brain Malformation

• 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 HUMAN GENETICS

  Investigation of modifier genes within copy number variations in Rett syndrome

• JOURNAL OF INHERITED METABOLIC DISEASE

  Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

• JOURNAL OF INHERITED METABOLIC DISEASE

  Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion

• JOURNAL OF INHERITED METABOLIC DISEASE

  Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated

• JOURNAL OF INHERITED METABOLIC DISEASE

  Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

• JOURNAL OF MEDICAL GENETICS

  The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

• JOURNAL OF MEDICAL GENETICS

  Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

• JOURNAL OF MEDICAL GENETICS

  Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

• JOURNAL OF MOLECULAR DIAGNOSTICS

  A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

• JOURNAL OF NEUROIMMUNOLOGY

  A role for inflammatory mediators in the modulation of the neurotrophin receptor p75NTR on human muscle precursor cells

• JOURNAL OF NEUROLOGY

  Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

• JOURNAL OF NEUROLOGY

  Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies

• JOURNAL OF NEUROLOGY

  Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

• JOURNAL OF NEUROLOGY

  Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

• JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

• JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

  Sarcolemmal Neuronal Nitric Oxide Synthase Defect in Limb-Girdle Muscular Dystrophy: An Adverse Modulating Factor in the Disease Course?

• JOURNAL OF NEUROSCIENCE RESEARCH

  Cell-Based High-Throughput Screening Identifies Galactocerebrosidase Enhancers as Potential Small-Molecule Therapies for Krabbe's Disease

• JOURNAL OF PATHOLOGY

  TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle

• JOURNAL OF PEDIATRICS

  Anti-N-methyl-D-Aspartate-Receptor Encephalitis in a Four-Year-Old Girl

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Mitochondrial DNA G8363A mutation in the tRNALys gene: Clinical, biochemical and pathological study

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  New molecular findings in congenital myopathies due to selenoprotein N gene mutations

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

• JOURNAL OF THE NEUROLOGICAL SCIENCES

  Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

• JOURNAL OF TRANSLATIONAL MEDICINE

  Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients

• MITOCHONDRION

  Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

• MOLECULAR AND CELLULAR BIOCHEMISTRY

  Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients

• MOLECULAR AND CELLULAR PROBES

  The-413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype

• MOLECULAR GENETICS AND METABOLISM

  Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

• MOLECULAR GENETICS AND METABOLISM

  Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

• MOLECULAR GENETICS AND METABOLISM

  Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

• MOLECULAR THERAPY

  The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

• MOLECULAR THERAPY

  Exon Skipping and Duchenne Muscular Dystrophy Therapy: Selection of the Most Active U1 snRNA-Antisense Able to Induce Dystrophin Exon 51 Skipping

• MOVEMENT DISORDERS

  Huntington CAG repeat size does not modify onset age in familial Parkinson's disease:: The GenePD study

• MOVEMENT DISORDERS

  Low Anaerobic Threshold and Increased Skeletal Muscle Lactate Production in Subjects with Huntington's Disease

• MOVEMENT DISORDERS

  Genomewide Linkage Study of Modifiers of LRRK2-Related Parkinson's Disease

• MOVEMENT DISORDERS

  Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease

• MUSCLE & NERVE

  FUKUTIN GENE MUTATIONS IN AN ITALIAN PATIENT WITH EARLY ONSET MUSCULAR DYSTROPHY BUT NO CENTRAL NERVOUS SYSTEM INVOLVEMENT

• MUSCLE & NERVE

  LATE ONSET OCULOPHARYNGEAL MUSCULAR DYSTROPHY WITH PROMINENT NEUROGENIC FEATURES AND SHORT GCG TRINUCLEOTIDE EXPANSION

• MUSCLE & NERVE

  CLINICAL AND MOLECULAR CHARACTERIZATION OF LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO LAMA2 MUTATIONS

• MUSCLE & NERVE

  Impaired expression of insulin-like growth factor-1 system in skeletal muscle of amyotrophic lateral sclerosis patients

• MUSCLE & NERVE

  New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy

• NATURE

  Direct generation of functional dopaminergic neurons from mouse and human fibroblasts

• NATURE

  Hsp72 preserves muscle function and slows progression of severe muscular dystrophy

• NATURE

  Progressive degeneration of human neural stem cells caused by pathogenic LRRK2

• NATURE COMMUNICATIONS

  Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes

• NATURE GENETICS

  Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

• NATURE GENETICS

  Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

• NATURE GENETICS

  Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

• NATURE GENETICS

  Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

• NEUROBIOLOGY OF AGING

  Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

• NEUROBIOLOGY OF DISEASE

  Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

• NEUROBIOLOGY OF DISEASE

  Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

• NEUROGENETICS

  Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

• NEUROGENETICS

  Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

• NEUROGENETICS

  Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: identification and structural modeling of novel mutations

• NEUROLOGICAL RESEARCH

  Macrophage-secreted factors enhance the in vitro expansion of DMD muscle precursor cells while preserving their myogenic potential

• NEUROLOGICAL RESEARCH

  The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

• NEUROLOGICAL RESEARCH

  Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

• NEUROLOGICAL SCIENCES

  Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2)

• NEUROLOGY

  Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

• NEUROLOGY

  Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II

• NEUROLOGY

  Congenital muscular dystrophies with defective glycosylation of dystroglycan A population study

• NEUROLOGY

  Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

• NEUROLOGY

  Congenital muscular dystrophies with cognitive impairment A population study

• NEUROLOGY

  SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

• NEUROLOGY

  ALS RISK BUT NOT PHENOTYPE IS AFFECTED BY ATAXIN-2 INTERMEDIATE LENGTH POLYGLUTAMINE EXPANSION

• NEUROLOGY

  Type I interferon and Toll-like receptor expression characterizes inflammatory myopathies

• NEUROMUSCULAR DISORDERS

  Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

• NEUROMUSCULAR DISORDERS

  Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

• NEUROMUSCULAR DISORDERS

  Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy

• NEUROMUSCULAR DISORDERS

  Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

• NEUROMUSCULAR DISORDERS

  Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR

• NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress

• NEUROPEDIATRICS

  Cognitive Profile in Spastic Paraplegia with Thin Corpus Callosum and Mutations in SPG11

• NUCLEIC ACIDS RESEARCH

  Down syndrome fibroblasts and mouse Prep1-overexpressing cells display increased sensitivity to genotoxic stress

• ONCOGENE

  Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome

• ORPHANET JOURNAL OF RARE DISEASES

  Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

• ORPHANET JOURNAL OF RARE DISEASES

  Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

• ORPHANET JOURNAL OF RARE DISEASES

  The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

• ORPHANET JOURNAL OF RARE DISEASES

  Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

• ORPHANET JOURNAL OF RARE DISEASES

  Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

• PARKINSONISM & RELATED DISORDERS

  α-Synuclein multiplication analysis in Italian familial Parkinson disease

• PARKINSONISM & RELATED DISORDERS

  Association analysis of PARP1 polymorphisms with Parkinson's disease

• PARKINSONISM & RELATED DISORDERS

  SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

• PARKINSONS DISEASE

  Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders

• PLOS ONE

  Expression Profiling of FSHD-1 and FSHD-2 Cells during Myogenic Differentiation Evidences Common and Distinctive Gene Dysregulation Patterns

• PLOS ONE

  Copy Number Variation in Familial Parkinson Disease

• PLOS ONE

  Microtubule Destabilization Is Shared by Genetic and Idiopathic Parkinson's Disease Patient Fibroblasts

• PLOS ONE

  Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

• PLOS ONE

  Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

• PLOS ONE

  Autophagy, Inflammation and Innate Immunity in Inflammatory Myopathies

• PRENATAL DIAGNOSIS

  Prenatal diagnosis of Gollop-Wolfgang Complex

• SCIENTIFIC REPORTS

  Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

• STEM CELL RESEARCH

  Amniotic fluid stem cells in a bone microenvironment: Driving host angiogenic response

• STEM CELLS AND DEVELOPMENT

  Proangiogenic Soluble Factors from Amniotic Fluid Stem Cells Mediate the Recruitment of Endothelial Progenitors in a Model of Ischemic Fasciocutaneous Flap