Lista de obras - Elena Cellini - Dominio Público Uruguay

5-HT2A receptor gene polymorphism and eating disorders

artículo científico publicado en 2002

A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia

artículo científico publicado en 2002

Alzheimer's disease: role of size and location of white matter changes in determining cognitive deficits.

artículo científico publicado en 2005

Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity.

artículo científico publicado en 2006

Association analysis of the paraoxonase-1 gene with Alzheimer's disease.

artículo científico publicado en 2006

Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations

artículo científico publicado en 2004

Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations

artículo científico publicado en 2005

Association of IL10 promoter polymorphism in Italian Alzheimer's disease.

artículo científico publicado en 2007

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

artículo científico publicado en 2008

Associations of individual and family eating patterns during childhood and early adolescence: a multicentre European study of associated eating disorder factors.

artículo científico publicado en 2008

Brain metabolic differences between sporadic and familial Alzheimer's disease.

artículo científico publicado en 2003

Brain-derived neurotrophic factor genetic variants are not susceptibility factors to Alzheimer's disease in Italy.

artículo científico publicado en 2004

Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease.

artículo científico publicado en 2004

Case???control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa

article

Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease

artículo científico publicado en 2002

Cholesteryl ester transfer protein (CETP) I405V polymorphism and longevity in Italian centenarians

article

Clinical and genetic analysis of an Italian family with Machado-Joseph disease

article

Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.

artículo científico publicado en 2001

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

artículo científico publicado en 2017

Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease.

artículo científico publicado en 2008

Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.

artículo científico publicado en 2005

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

artículo científico publicado en 2016

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

Factors of risk and maintenance for eating disorders: psychometric exploration of the cross-cultural questionnaire (CCQ) across five European countries.

artículo científico publicado en 2010

Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa

artículo científico publicado en 2012

Fragile X premutation with atypical symptoms at onset

artículo científico publicado en 2006

Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity

article

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

artículo científico publicado en 2003

Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population

artículo científico publicado en 2010

Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease

artículo científico publicado en 2009

Implication of sex and SORL1 variants in italian patients with Alzheimer disease

artículo científico publicado en 2009

Insulin degrading enzyme and alpha-3 catenin polymorphisms in Italian patients with Alzheimer disease.

artículo científico publicado en 2005

KIBRA gene variants are associated with episodic memory performance in subjective memory complaints

article

Lack of association between NOS3 polymorphism and Italian sporadic and familial Alzheimer's disease

article

Lack of association between TNF-alpha polymorphisms and Alzheimer's disease in an Italian cohort

artículo científico publicado en 2008

Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease

artículo científico publicado en 2005

Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease

artículo científico publicado en 2010

Low social interactions in eating disorder patients in childhood and adulthood: a multi-centre European case control study.

artículo científico publicado en 2012

Membrane cholesterol enrichment prevents Aβ-induced oxidative stress in Alzheimer's fibroblasts.

artículo científico publicado en 2009

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

artículo científico publicado en 2011

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

artículo científico publicado en 2019

Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease

artículo científico publicado en 2008

No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy.

artículo científico publicado en 2007

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

artículo científico publicado en 2012

Present and lifetime comorbidity of tobacco, alcohol and drug use in eating disorders: a European multicenter study.

artículo científico publicado en 2008

Psychopathological traits and 5-HT2A receptor promoter polymorphism (-1438 G/A) in patients suffering from Anorexia Nervosa and Bulimia Nervosa

artículo científico publicado en 2004

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

artículo científico publicado en 2017

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

artículo científico publicado en 2017

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

artículo científico publicado en 2014

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

artículo científico publicado en 2010

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

artículo científico publicado en 2017

Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations.

artículo científico publicado en 2007

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy

artículo científico publicado en 2015

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer's disease.

artículo científico publicado en 2004

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer’s disease

article

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

artículo científico publicado en 2010

α2-Macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease

article

Lista de obras de Elena Cellini

5-HT2A receptor gene polymorphism and eating disorders

A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia

Alzheimer's disease: role of size and location of white matter changes in determining cognitive deficits.

Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity.

Association analysis of the paraoxonase-1 gene with Alzheimer's disease.

Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations

Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations

Association of IL10 promoter polymorphism in Italian Alzheimer's disease.

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

Associations of individual and family eating patterns during childhood and early adolescence: a multicentre European study of associated eating disorder factors.

Brain metabolic differences between sporadic and familial Alzheimer's disease.

Brain-derived neurotrophic factor genetic variants are not susceptibility factors to Alzheimer's disease in Italy.

Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease.

Case???control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa

Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease

Cholesteryl ester transfer protein (CETP) I405V polymorphism and longevity in Italian centenarians

Clinical and genetic analysis of an Italian family with Machado-Joseph disease

Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease.

Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Diagnostic implications of genetic copy number variation in epilepsy plus

Factors of risk and maintenance for eating disorders: psychometric exploration of the cross-cultural questionnaire (CCQ) across five European countries.

Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa

Fragile X premutation with atypical symptoms at onset

Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population

Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease

Implication of sex and SORL1 variants in italian patients with Alzheimer disease

Insulin degrading enzyme and alpha-3 catenin polymorphisms in Italian patients with Alzheimer disease.

KIBRA gene variants are associated with episodic memory performance in subjective memory complaints

Lack of association between NOS3 polymorphism and Italian sporadic and familial Alzheimer's disease

Lack of association between TNF-alpha polymorphisms and Alzheimer's disease in an Italian cohort

Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease

Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease

Low social interactions in eating disorder patients in childhood and adulthood: a multi-centre European case control study.

Membrane cholesterol enrichment prevents Aβ-induced oxidative stress in Alzheimer's fibroblasts.

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease

No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy.

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

Present and lifetime comorbidity of tobacco, alcohol and drug use in eating disorders: a European multicenter study.

Psychopathological traits and 5-HT2A receptor promoter polymorphism (-1438 G/A) in patients suffering from Anorexia Nervosa and Bulimia Nervosa

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations.

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer's disease.

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer’s disease

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

α2-Macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease