List of works - Giacomo P Comi

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)

Role of adenine nucleotide translocator 1 in mtDNA maintenance

scientific article

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

scientific article published on 17 November 2005

Ataluren treatment of patients with nonsense mutation dystrophinopathy

scientific article

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

scientific article published on 25 July 2016

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

scientific article

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

scientific article

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

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

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

scientific article (publication date: 26 May 2009)

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

scientific article published in January 1998

Silencer elements as possible inhibitors of pseudoexon splicing

scientific article

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

scientific article

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

scientific article

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

scientific article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

Cognitive impairment in Duchenne muscular dystrophy.

scientific article published on July 1994

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

scientific article published on 6 July 2011

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

scientific article published on 23 June 2005

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

scientific article published on July 2010

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

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

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

scientific article published on 23 June 2009

Stem cell therapy in stroke.

scientific article published on March 2009

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published on 19 May 2015

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

scientific article

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

scientific article published in May 2013

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

scientific article (publication date: August 2001)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 February 2009

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

scientific article

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

scientific article

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

scientific article published on 12 March 2011

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

scientific article published on 28 March 2007

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

scientific article

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

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

scientific article published in February 2008

Mitochondrial fusion proteins and human diseases.

scientific article published on 27 May 2013

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

scientific article

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

scientific article

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

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

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

scientific article

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

scientific article published on 25 September 2008

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

article

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

scientific article published on 4 July 2012

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

List of works by Giacomo P Comi

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

Role of adenine nucleotide translocator 1 in mtDNA maintenance

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

Ataluren treatment of patients with nonsense mutation dystrophinopathy

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

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

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

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

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

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

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

Silencer elements as possible inhibitors of pseudoexon splicing

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

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

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

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Cognitive impairment in Duchenne muscular dystrophy.

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

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

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

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

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

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

Stem cell therapy in stroke.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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

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

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

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

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

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

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

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

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

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

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

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

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

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

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

Mitochondrial fusion proteins and human diseases.

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

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

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

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

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

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

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

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

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