Search filters

List of works by Cristina Cereda

2-DE and MALDI-TOF-MS for a comparative analysis of proteins expressed in different cellular models of amyotrophic lateral sclerosis

scientific article

A Surveillance Function of the HSPB8-BAG3-HSP70 Chaperone Complex Ensures Stress Granule Integrity and Dynamism.

scientific article published on 25 August 2016

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

scientific article

A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome

scientific article published on 21 March 2012

A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family

scientific article published in July 2013

Altered intracellular localization of SOD1 in leukocytes from patients with sporadic amyotrophic lateral sclerosis

scientific article

Amyotrophic lateral sclerosis and skeletal muscle: an update.

scientific article

An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1

scientific article published on March 13, 2012

Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management

scientific article

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

scientific article published on 2 July 2013

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

Blood-Based Biomarker Candidates of Cerebral Amyloid Using PiB PET in Non-Demented Elderly.

scientific article published on 29 March 2016

Brain-derived neurotrophic factor gene variants and Alzheimer disease: an association study in an Alzheimer disease Italian population

scientific article

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient

scientific article published in October 2013

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

scientific article published on 01 January 2015

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study

scientific article published in January 2014

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

scientific article published on 4 July 2012

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

scientific article published on 2 October 2013

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease

scientific article

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

scientific article published on 31 May 2016

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Comparison of three methods for genotyping of prothrombotic polymorphisms

scientific article published on 29 April 2010

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

scientific article

Effect of nitric oxide on lymphocytes from sporadic amyotrophic lateral sclerosis patients: toxic or protective role?

scientific article

Effect of the 50 bp deletion polymorphism in the SOD1 promoter on SOD1 mRNA levels in Italian ALS patients.

scientific article published on 18 October 2011

Erratum to: De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

scientific article published on 12 July 2017

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

scientific article

Flavin-containing monooxygenase mRNA levels are up-regulated in als brain areas in SOD1-mutant mice

scientific article

From Transcriptome to Noncoding RNAs: Implications in ALS Mechanism.

scientific article

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published on 25 July 2016

Hsp90-mediated regulation of DYRK3 couples stress granule disassembly and growth via mTORC1 signaling

scientific article published on 19 March 2021

HuR interacts with lincBRN1a and lincBRN1b during neuronal stem cells differentiation

scientific article published on 26 July 2019

Hydrogen peroxide-mediated induction of SOD1 gene transcription is independent from Nrf2 in a cellular model of neurodegeneration.

scientific article published on 24 November 2015

Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

scientific article

Lack of association of PON polymorphisms with sporadic ALS in an Italian population

scientific article published on 9 April 2010

Legius Syndrome: two novel mutations in the SPRED1 gene.

scientific article published on 3 December 2015

Leveraging Non-negative Matrix Tri-Factorization and Knowledge-Based Embeddings for Drug Repurposing: an Application to Parkinson's Disease

scientific article published on 28 February 2024

Long non coding RNAs and ALS: Still much to do

scientific article published on 15 November 2018

Long non-coding and coding RNAs characterization in Peripheral Blood Mononuclear Cells and Spinal Cord from Amyotrophic Lateral Sclerosis patients

scientific article

Lymphoblastoid cell lines as a model to understand amyotrophic lateral sclerosis disease mechanisms

scientific article

Modified expression of Bcl-2 and SOD1 proteins in lymphocytes from sporadic ALS patients

scientific article

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

scientific article published on 3 December 2011

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

NGF and heart: Is there a role in heart disease?

scientific article published on 30 December 2010

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

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

scientific article published on 25 May 2011

Optimization protocol for amyloid-β peptides detection in human cerebrospinal fluid using SELDI TOF MS.

scientific article

Optimizing separation efficiency of 2-DE procedures for visualization of different superoxide dismutase forms in a cellular model of amyotrophic lateral sclerosis.

scientific article

PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

scientific article published on 08 April 2021

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

article

Paraneoplastic brainstem encephalitis in a patient with malignant fibrous histiocytoma and atypical anti-neuronal antibodies

scientific article published on 01 November 2004

Pathological Proteins Are Transported by Extracellular Vesicles of Sporadic Amyotrophic Lateral Sclerosis Patients

scientific article published on 19 July 2018

Peripheral expression of key regulatory kinases in Alzheimer's disease and Parkinson's disease.

scientific article published on 27 January 2010

Posttranscriptional regulation of SOD1 gene expression under oxidative stress: Potential role of ELAV proteins in sporadic ALS.

scientific article published on 20 August 2013

Potential therapeutic usefulness of hydrogen peroxide in conditions of brain ischemia

scientific article published on 14 April 2008

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

scientific article

Regulation of FMO and PON detoxication systems in ALS human tissues.

scientific article

SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS

scientific article

SOD1 in Amyotrophic Lateral Sclerosis: "Ambivalent" Behavior Connected to the Disease.

scientific article

SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis

scientific article

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

scientific article published on 11 October 2012

Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene

scientific article

Sporadic and familial glut1ds Italian patients: A wide clinical variability

scientific article published on 26 November 2014

TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage

scientific article published on 10 December 2020

TNF and sTNFR1/2 plasma levels in ALS patients.

scientific article

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

scientific article

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.

scientific article

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

scientific article published on 01 June 2022

The Paleo-Indian Entry into South America According to Mitogenomes

scientific article published on 31 October 2017

The Possible Involvement of HLA Class III Haplotype (RAGE, HSP70 and TNF Genes) in Alzheimer's Disease

scientific article

The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine

scientific article

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

scientific article published on 27 July 2017

The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity.

scientific article published on 27 July 2016

The human leukocyte antigen class III haplotype approach: new insight in Alzheimer's disease inflammation hypothesis

scientific article published in December 2013

Time course of oxidant markers and antioxidant defenses in subgroups of amyotrophic lateral sclerosis patients.

scientific article published on 10 February 2010

Transcriptional induction of the heat shock protein B8 mediates the clearance of misfolded proteins responsible for motor neuron diseases

scientific article published on 10 March 2016

Typing TREX1 gene in patients with systemic lupus erythematosus

scientific article

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

scientific article published on 8 November 2012

VPS54 genetic analysis in ALS Italian cohort

article