Advanced search

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

List of works by Giacomo P Comi

51-100 of 269 results

View this query on the Wikidata Query Service
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

Paulina is supported by:

About Paulina

Help