List of works by Stefania Corti

A cortically blind patient with preserved visual imagery

scientific article published in March 2010

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

scientific article

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations

scientific article

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

scientific article published on 10 January 2015

A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse

scientific article

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development

scientific article published on 26 July 2011

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

scientific article published in May 2009

Absence of angiogenic genes modification in Italian ALS patients

scientific article published in February 2008

Addressing motivation in globesity treatment: a new challenge for clinical psychology

scientific article

Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis

scientific article published on 26 March 2019

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

scientific article

An ICF-Based Model for Implementing and Standardizing Multidisciplinary Obesity Rehabilitation Programs within the Healthcare System

scientific article published on 29 May 2015

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

scientific article published on 2 July 2013

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment

scientific article

Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.

scientific article published on 09 May 2014

Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status.

scientific article published in July 2009

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

article

Autophagy in motor neuron disease: Key pathogenetic mechanisms and therapeutic targets

scientific article published on 30 January 2016

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

scientific article

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225.

scientific article published on October 2011

Biodistribution studies of 99mTc-labeled myoblasts in a murine model of muscular dystrophy

scientific article published in November 2001

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

scientific article published on 4 July 2012

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis ⬇️

scientific article published on 08 October 2013

Chemotactic factors enhance myogenic cell migration across an endothelial monolayer.

scientific article

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

scientific article published on 31 May 2016

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

scientific article

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1

scientific article

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

scientific article

Clinical studies in stem cells transplantation for stroke: a review

scientific article published in January 2010

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

scientific article

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

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

scientific article published on 12 February 2008

Definition of the ICF-OB, a multidisciplinary schedule based on the International Classification of Functioning, Disability and Health to address disability in obesity

scientific article published in June 2017

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders

scientific article

Developmental and tissue-specific regulation of a novel dysferlin isoform.

scientific article published in September 2004

Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS.

scientific article published on 16 May 2016

Direct reprogramming of adult somatic cells into other lineages: past evidence and future perspectives

scientific article published on 03 October 2012

Direct reprogramming of human astrocytes into neural stem cells and neurons.

scientific article

Effect of Combined Systemic and Local Morpholino Treatment on the Spinal Muscular Atrophy Δ7 Mouse Model Phenotype

scientific article published on 01 March 2014

Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

scientific article published on 16 December 2008

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

scientific article

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Experimental Advances Towards Neural Regeneration from Induced Stem Cells to Direct In Vivo Reprogramming.

scientific article published on 02 May 2015

Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers

scientific article published on 16 August 2020

Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice

scientific article published in July 2007

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

scientific article

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies.

scientific article published on July 2012

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy

scientific article

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

scientific article published on 12 March 2011

Glycogen storage disease type III: A novel Agl knockout mouse model.

scientific article

Growing Evidence about the Relationship between Vessel Dissection and Scuba Diving.

scientific article published on 12 September 2013

Growth factors in ischemic stroke.

scientific article

Human motor neuron generation from embryonic stem cells and induced pluripotent stem cells

scientific article published on 29 July 2010

Human pluripotent stem cells as tools for neurodegenerative and neurodevelopmental disease modeling and drug discovery.

scientific article published on 20 April 2015

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

scientific article published on 24 September 2015

Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity.

scientific article published on 17 November 2005

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

Improved synthesis and application of an alkyne-functionalized isoprenoid analogue to study the prenylomes of motor neurons, astrocytes and their stem cell progenitors

scientific article published in 2024

Improvement of Combined FISH and Immunofluorescence to Trace the Fate of Somatic Stem Cells after Transplantation

scientific article published in October 2004

In Vivo Transient and Partial Cell Reprogramming to Pluripotency as a Therapeutic Tool for Neurodegenerative Diseases

scientific article published on 20 January 2018

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

scientific article published on 23 January 2014

In vitro neurogenesis: development and functional implications of iPSC technology

scientific article

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

scientific article published on 24 September 2007

Induced neural stem cells: methods of reprogramming and potential therapeutic applications

scientific article

Internet-based behavioral interventions for obesity: an updated systematic review

scientific article

Intracerebral haemorrhage, a possible presentation in Churg-Strauss syndrome: Case report and review of the literature ⬇️

scientific article published on November 20, 2010

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

scientific article published in May 2009

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

scientific article

Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression

scientific article published on 28 March 2007

Long-term neuropsychological deficits after cerebellar infarctions in two young adult twins

scientific article published in January 2004

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

scientific article published on 07 May 2014

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

scientific article published on 29 May 2015

Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic

scientific article published on 17 August 2020

MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.

scientific article

MicroRNA-Directed Neuronal Reprogramming as a Therapeutic Strategy for Neurological Diseases

scientific article published on 29 June 2017

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis

scientific article published on 04 January 2019

Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.

scientific article published on 04 September 2013

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study

scientific article published on 10 March 2009

Mitochondrial fusion proteins and human diseases.

scientific article published on 27 May 2013

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

scientific article published on July 2010

Molecular Approaches for the Treatment of Pompe Disease

scientific article published on 12 November 2019

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

scientific article

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

scientific article

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype

scientific article published on 16 February 2016

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

scientific article published on 23 September 2009

Motor neuron derivation from human embryonic and induced pluripotent stem cells: experimental approaches and clinical perspectives

scientific article

Motor neurons with differential vulnerability to degeneration show distinct protein signatures in health and ALS.

scientific article published on 16 February 2015

Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells

scientific article

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

scientific article

Mutational analysis of COQ2 in patients with MSA in Italy

article

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

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

scientific journal article

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

scientific article

Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model.

scientific article

Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord and sensory ganglia.

scientific article published in December 2002

Neuronal differentiation of murine bone marrow Thy-1- and Sca-1-positive cells

scientific article published in December 2003

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

scientific article

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

scientific article published in January 2011

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

scientific article

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

scientific article

Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives

scientific article published on 29 April 2020

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

scientific article published on 9 January 2015

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

scientific article published on 25 May 2011

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients

scientific article published on 07 February 2020

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

scientific article published on 18 June 2013

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

scientific article published on 22 December 2011

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

scientific article

Patients with obesity-related comorbidities have higher disability compared with those without obesity-related comorbidities: results from a cross-sectional study

scientific article published on 17 November 2015

Pluripotent stem cell-based models of spinal muscular atrophy

scientific article

Psychological Considerations in the Assessment and Treatment of Pain in Neurorehabilitation and Psychological Factors Predictive of Therapeutic Response: Evidence and Recommendations from the Italian Consensus Conference on Pain in Neurorehabilitati

scientific article

Psychological Treatments and Psychotherapies in the Neurorehabilitation of Pain: Evidences and Recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation

scientific article

RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant.

scientific article published on 6 April 2010

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis

scientific article

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

scientific article published on 14 December 2012

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

scientific article

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

scientific article published on 24 August 2007

STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone

scientific article published on 13 November 2019

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

scientific article published on 11 October 2012

Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS)

scientific article published on 14 March 2020

Skeletal muscle differentiation potential of human adult bone marrow cells

scientific article published on 15 April 2004

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

scientific article published on 30 June 2015

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

scientific article published on 04 December 2019

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

scientific article published on 19 May 2015

Stem cell therapy in stroke.

scientific article published on March 2009

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation.

scientific article published on 04 April 2014

Synaptotagmin 13 is neuroprotective across motor neuron diseases

scientific article published on 17 February 2020

Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis

scientific article published on 22 July 2010

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

scientific article published on 19 February 2009

TECNOB Study: Ad Interim Results of a Randomized Controlled Trial of a Multidisciplinary Telecare Intervention for Obese Patients with Type-2 Diabetes

scientific article

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

scientific article

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

scientific article published on 18 February 2010

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

scientific article published on 30 April 2009

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

scientific article published on 21 December 2011

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review

scientific article published on 16 September 2014

Therapeutic applications of the cell-penetrating HIV-1 Tat peptide

scientific article published on 30 September 2014

Therapeutic development in amyotrophic lateral sclerosis.

scientific article published on 07 February 2015

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

scientific article

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

scientific article

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

scientific article published on 23 February 2011

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 8 November 2012

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

scientific article published on 27 July 2011

Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues.

scientific article published on 6 October 2004

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1

scientific article

iPSC-derived LewisX+CXCR4+β1-integrin+ neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.

scientific article published on 6 June 2016

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