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List of works by Gabriele Siciliano

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Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)
APOE and Alzheimer disease: a major gene with semi-dominant inheritance

scientific article
Causative and susceptibility genes for Alzheimer's disease: a review.

scientific article
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).

scientific article
Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients

scientific article published in May 2005
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

scientific article published on 12 November 2011
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

scientific article published on 29 March 2005
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
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

scientific article published on 19 February 2009
Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity.

scientific article published in June 2006
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article
Pleiotropic effects of spastin on neurite growth depending on expression levels

scientific article
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study

scientific article published on 5 June 2008
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013
Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease.

scientific article published in August 2003
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations

scientific article
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

scientific article
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

scientific article
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

scientific article published on 20 March 2012
Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

scientific article published on 01 August 2000
Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral Sclerosis.

scientific article
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

scientific article
Searching for the role and the most suitable biomarkers of oxidative stress in Alzheimer's disease and in other neurodegenerative diseases

scientific article published in May 2005
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

scientific article published on 5 April 2010
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

scientific article
Extracellular Microfibrils Control Osteoblast-supported Osteoclastogenesis by Restricting TGFβ Stimulation of RANKL Production

scientific article published on August 21, 2010
Human dental pulp stem cells protect mouse dopaminergic neurons against MPP+ or rotenone

scientific article published on 18 September 2010
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

scientific article published on 01 November 2004
Long-term treatment with idebenone and riboflavin in a patient with MELAS.

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

scientific article published on 08 June 2016
Mitochondria, mitochondrial DNA and Alzheimer's disease. What comes first?

scientific article published on October 2008
Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis.

scientific article
Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls

scientific article published on 15 December 2011
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

scientific article
POLG1-related and other "mitochondrial Parkinsonisms": an overview.

scientific article published on 08 January 2011
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

scientific article published on 4 December 2009
Oxidative stress biomarkers in patients with untreated obstructive sleep apnea syndrome

scientific article published on 23 April 2012
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring

scientific article
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

scientific article published on 22 February 2009
Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: Clinical and biological results from a prospective multicenter study

scientific article published on 01 February 2011
From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy.

scientific article published in August 2005
Methylation analysis of multiple genes in blood DNA of Alzheimer's disease and healthy individuals

scientific article
Muscle modifications in Parkinson's disease: myoelectric manifestations

scientific article

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