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Authors whose works are in public domain in at least one jurisdiction

List of works by Giacomo P Comi

51-100 of 269 results

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

scientific article published in March 2005

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

scientific article from 2008

Chemotactic factors enhance myogenic cell migration across an endothelial monolayer.

scientific article

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 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

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

scientific article

Genome-Wide Identification of Susceptibility Alleles for Viral Infections through a Population Genetics Approach

scientific article (publication date: 19 February 2010)

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 2003

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

scientific article published on 8 November 2012

Growth factors in ischemic stroke.

scientific article

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

scientific article

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

scientific article published in August 1991

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

scientific article published on 10 June 2010

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

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

scientific article published on 22 July 2010

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

scientific article published on 25 May 2011

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

scientific article

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

scientific article published on 8 May 2012

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

scientific article published on 8 January 2014

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

scientific article published on 08 June 2016

Metformin overdose causes platelet mitochondrial dysfunction in humans.

scientific article published on 03 October 2012

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

scientific article (publication date: 2006)

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

scientific article

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

scientific article published on 18 June 2013

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

scientific article

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

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

scientific article published on 01 March 2000

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

scientific article published in 1995

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

scientific article

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

scientific article published in January 1997

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

scientific article published on 29 October 2015

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

scientific article

The dystrophin gene is alternatively spliced throughout its coding sequence.

scientific article

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

scientific article

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

scientific article published in July 2007

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

scientific article published on 29 May 2015

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

scientific article published on 24 September 2007

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

scientific article published on 01 March 2014

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

scientific article

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

scientific article published on 09 May 2014

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

scientific article published on August 31, 2010

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

scientific article

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

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

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

scientific article published in November 1999

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

scientific article published on 11 October 2012

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

scientific article published on 9 March 2009

A functional variant in ERAP1 predisposes to multiple sclerosis

scientific article

The role of protozoa-driven selection in shaping human genetic variability

scientific article published on 25 January 2010