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List of works by Giacomo P Comi

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

scientific article published on 8 January 2014

6-[18F]Fluoro-l-dihydroxyphenylalanine metabolism and positron emission tomography aftercatechol-O-methyltransferase inhibition in normal and hemiparkinsonian monkeys

scientific article published in October 1993

A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles.

scientific article published on 23 May 2013

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

scientific article published in November 1995

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

scientific article published on 15 September 2005

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

scientific article from 2008

A complex selection signature at the human AVPR1B gene

scientific article

A functional variant in ERAP1 predisposes to multiple sclerosis

scientific article

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

scientific article

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

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 novel mitochondrial tRNA Ile point mutation in chronic progressive external ophthalmoplegia

scientific article published in October 1998

A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime

scientific article published on 13 August 2009

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

scientific article published on 4 August 2006

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

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

scientific article published on 22 January 2007

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

scientific article published on 6 January 2012

Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy

scientific article

Absence of angiogenic genes modification in Italian ALS patients

scientific article published in February 2008

Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

scientific article published on 20 September 2013

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

scientific article

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

scientific article

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

scientific article

An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection

scientific article

An evolutionary history of the selectin gene cluster in humans.

scientific article

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

scientific article

An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement

scientific article published on 12 August 2009

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

scientific article published on 2 July 2013

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences

article

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

article

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

scientific article published on 09 May 2014

Appearance and localization of dystrophin in normal human fetal muscle

scientific article published in January 1991

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

article

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

scientific article published on 16 October 2015

Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle

scientific article published in September 1996

Ataluren treatment of patients with nonsense mutation dystrophinopathy

scientific article

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

scientific article

Balancing selection in the extended MHC region maintains a subset of alleles with opposite risk profile for different autoimmune diseases

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

scientific article

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

scientific article (publication date: August 2001)

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

Both selective and neutral processes drive GC content evolution in the human genome

scientific article

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

Calpain 3 deficiency in Quail Eater's disease

scientific article published in 2003

Chemotactic factors enhance myogenic cell migration across an endothelial monolayer.

scientific article

Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.

scientific article published on May 1994

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

scientific article published in May 1993

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

scientific article

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

scientific article

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

scientific article published in February 2008

Cognitive impairment in Duchenne muscular dystrophy.

scientific article published on July 1994

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

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature ⬇️

scientific article published on May 1, 2003

Congenital muscular dystrophies with cognitive impairment. A population study.

scientific article published in September 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

scientific article (publication date: 26 May 2009)

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

scientific article published on 4 January 2006

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis

scientific article

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

scientific article published in January 1992

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

scientific article published on 4 December 2015

Crohn's disease loci are common targets of protozoa-driven selection

scientific article published on 6 February 2013

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

scientific article published in January 1998

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

scientific article published on 12 February 2008

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

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

Diverse evolutionary histories for beta-adrenoreceptor genes in humans

scientific article published on 02 July 2009

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

scientific article published in November 1995

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

scientific article published on 24 April 2020

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

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

scientific article published in October 2002

Familial idiopathic hyper-CK-emia: an underrecognized condition.

scientific article published in June 2006

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

scientific article

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

scientific article published in July 2007

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

scientific article published on December 2012

Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics

scientific article published in September 2005

Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study.

scientific article published in November 1999

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

scientific article published on 13 June 2006

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

scientific article published on 6 July 2011

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

scientific article (publication date: 2006)

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

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

scientific article

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

scientific article published on 29 October 2015

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders

scientific article

Genetic background predicts poor prognosis in frontotemporal lobar degeneration.

scientific article published on 11 February 2011

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

scientific article published on 28 April 2020

Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach

scientific article (publication date: 19 February 2010)

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

scientific article published on 12 March 2011

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

scientific article published in 1995

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

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

scientific article

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

scientific article (publication date: July 2001)

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

scientific article published on 24 September 2015

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

scientific article

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

scientific article published on 17 November 2005

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

scientific article

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

scientific article published in December 2007

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

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

scientific article

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

scientific article published in October 2004

Improvement of endurance of DMD animal model using natural polyphenols.

scientific article published on 15 March 2015

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

scientific article published on 23 January 2014

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

scientific article published on 24 September 2007

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

scientific article published in 2012

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

scientific article

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients

scientific article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

scientific article

Intron size in mammals: complexity comes to terms with economy

scientific article published on 30 October 2006

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

scientific article

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

scientific article published in May 2009

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

scientific article published on 28 March 2007

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

scientific article

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

scientific article published on 29 July 2002

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

scientific article

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

scientific article

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

scientific article published on 01 March 2000

Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis

scientific article published on 21 October 2015

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

scientific article

Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.

scientific article published on 13 November 2011

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

MUSCLE G6PD DEFICIENCY

scientific article published in The Lancet

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

scientific article published on 17 August 2020

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

scientific article published on 15 April 2008

Metabolic and drug-induced muscle disorders.

scientific article

Metformin overdose causes platelet mitochondrial dysfunction in humans.

scientific article published on 03 October 2012

Metformin overdose, but not lactic acidosis per se, inhibits oxygen consumption in pigs.

scientific article published on 8 May 2012

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 A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

scientific article published in November 2003

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

scientific article

Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease.

scientific article

Mitochondrial fusion proteins and human diseases.

scientific article published on 27 May 2013

Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.

scientific article published in January 1994

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

scientific article published on July 2010

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases

scientific article published in April 2004

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

scientific article published on 17 November 2011

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

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

scientific article

Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis

scientific article published in July 1993

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

scientific article published in May 1994

Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases

scientific article published in 1994

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

scientific article

Muscle glucose-6-phosphate dehydrogenase deficiency

scientific article published on 01 May 1989

Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient

scientific article published in August 1991

Muscle pain in mitochondrial diseases: a picture from the Italian network

article

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

scientific article published on 25 July 2009

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

scientific article

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

scientific article published on 3 December 2011

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

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

scientific article

Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site

scientific article published on November 2011

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

scientific article published in December 2003

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.

scientific article published on 8 April 2009

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

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

scientific article published on June 2012

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

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

scientific article

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: Evidence from a safety study with pilot efficacy measures in adult dystrophic patients

scientific article published on 25 January 2012

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

scientific article published on 16 April 2014

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

scientific article

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

scientific article published on 9 January 2015

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

scientific article published on 30 June 2008

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

scientific article published in 1999

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

scientific article

Novel mutations in DNA2 associated with myopathy and mtDNA instability

scientific article published on 02 September 2019

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

scientific article published on 25 May 2011

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

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing

article

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 2003

Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions

scientific article

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

scientific article published on 20 January 2007

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

scientific article published in May 2013

Platelet mitochondrial dysfunction in critically ill patients: comparison between sepsis and cardiogenic shock.

scientific article

Polymorphisms in the CPB2 Gene Are Maintained by Balancing Selection and Result in Haplotype-Preferential Splicing of Exon 7

article

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis

scientific article published on 23 June 2005

Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes

scientific article published on 10 June 2010

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients

scientific article published in May 2013

Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degeneration.

scientific article published on August 2008

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

scientific article published on 01 May 2001

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

scientific article published on 20 October 2020

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

scientific article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

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

scientific article

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

scientific article

Respiratory pattern in an adult population of dystrophic patients

scientific article published in July 2011

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

scientific article

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

scientific article published on 14 December 2012

Role of VEGF gene variability in longevity: A lesson from the Italian population

article

Role of adenine nucleotide translocator 1 in mtDNA maintenance

scientific article

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

scientific article published in February 1995

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

Safety of Systemic Chemotherapy in a Patient With Mitochondrial Myopathy and Non–Small-Cell Lung Cancer

scientific article published on 20 August 2012

Sarcoglycan deficiency in a large Italian population of myopathic patients

scientific article published in November 1998

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

scientific article

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

scientific article published on 11 October 2012

Searching for genes affecting the structural integrity of the mitochondrial genome

scientific article

Silencer elements as possible inhibitors of pseudoexon splicing

scientific article

Skeletal muscle gene expression profiling in mitochondrial disorders.

scientific article published on 23 February 2005

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

scientific article published on 22 March 2011

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--recent therapeutic advances for an old challenge.

scientific article published on 19 May 2015

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

scientific article

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

Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye

scientific article published on 27 December 2018

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

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

scientific article

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The Italian Multiple Sclerosis Database Network (MSDN): the risk of worsening according to IFNβ exposure in multiple sclerosis

article

The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects

scientific article published in January 1997

The brain is hypothermic in patients with mitochondrial diseases

scientific article

The dystrophin gene is alternatively spliced throughout its coding sequence.

scientific article

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

scientific article published on 08 June 2016

The influence of coenzyme Q10 on total serum calcium concentration in two patients with kearns-sayre syndrome and hypoparathyroidism

scientific article published in January 1996

The landscape of human genes involved in the immune response to parasitic worms ⬇️

scientific article published on August 31, 2010

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

scientific article

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 role of protozoa-driven selection in shaping human genetic variability

scientific article published on 25 January 2010

The signature of long-standing balancing selection at the human defensin beta-1 promoter.

scientific article published on 25 September 2008

Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles

article

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.

scientific article published in May 2001

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

scientific article

Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic role.

scientific article

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

scientific article published in January 2003

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

scientific article

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

Utrophin expression during human fetal development

scientific article published in October 1995

VEGF gene variability and type 1 diabetes: evidence for a protective role

scientific article published in March 2006

VEGF genetic variability is associated with increased risk of developing Alzheimer's disease

scientific article published on 9 March 2009

VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome

scientific article published in January 2010

Variants in SNAP25 are targets of natural selection and influence verbal performances in women.

scientific article

Vascular endothelial growth factor gene variability is associated with increased risk for AD.

scientific article published in March 2005

Widespread balancing selection and pathogen-driven selection at blood group antigen genes

scientific article

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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