List of works - Rosanna Asselta

A functional variant in ERAP1 predisposes to multiple sclerosis

scientific article

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest

scientific article published on 10 May 2018

A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker

article

A new exon in the 5' untranslated region of the connexin32 gene

scientific article published in January 1999

A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

scientific article published on 30 October 2007

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family.

scientific article published in March 2009

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

scientific article

A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

article

A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.

scientific article

ABO histo-blood group might modulate predisposition to Crohn's disease and affect disease behavior.

scientific article

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

scientific article published on 02 April 2020

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

scientific article published on 06 April 2020

Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene

scientific article published on May 2007

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

scientific article

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

scientific article published on 8 October 2014

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia

article

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

scientific article published in August 1998

Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency

scientific article published on 01 September 2009

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

scientific article published on 15 August 2002

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

scientific article

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

scientific article

Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: gene and smoking status interaction.

scientific article published on 9 August 2012

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome

scientific article published in February 1998

Autosomal recessive deficiencies of coagulation factors

scientific article

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

scientific article published in January 2001

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

scientific article published on 27 November 2014

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

scientific article published on 19 June 2003

Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions

article

Coagulation factor V.

scientific article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

article

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population

article

Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford

scientific article published on 01 December 2000

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

article

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene

scientific article published in October 2003

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

article

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop)

scientific article published on 11 November 2019

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion

scientific article

Crohn's disease loci are common targets of protozoa-driven selection

scientific article published on 6 February 2013

DNAJC12 and dopa-responsive nonprogressive parkinsonism

scientific article published on 11 September 2017

Do tardive dyskinesia and L-dopa induced dyskinesia share common genetic risk factors? An exploratory study.

scientific article

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

scientific article

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

scientific article

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

scientific article published in August 2002

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

scientific article published on 14 June 2017

Factor V deficiency.

scientific article published on June 2009

Factor X Shanghai: a mutation disrupting translocation to the endoplasmic reticulum

scientific article published in December 2005

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

scientific article

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

scientific article

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

scientific article published on 14 December 2017

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

article

First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

scientific article published on 10 October 2018

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

scientific article published on 10 December 2015

Functional and clinical implications of genetic structure in 1686 Italian exomes

scientific article published on 16 December 2020

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency

scientific article published on 21 July 2011

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

scientific article published on 18 December 2013

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

scientific article

Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.

scientific article published on 8 March 2018

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

article

Genetic analysis of Italian patients with congenital hyperinsulinism of infancy

scientific article published in May 2013

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

scientific article published on December 2011

Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women.

scientific article published on 21 October 2014

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

scientific article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Glucocerebrosidase mutations in primary parkinsonism

scientific article

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

scientific article

Hereditary Hypofibrinogenemia with Hepatic Storage

scientific article published on 22 October 2020

Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter.

scientific article

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

scientific article

Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein

scientific article

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

scientific article published on 26 May 2011

Impact of anti-androgenic therapies on COVID-19: an observational study in male population from a COVID-19 regional centre of Lombardy (Italy)

scientific article published on 24 April 2020

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Inherited defects of coagulation factor V: the hemorrhagic side.

scientific article

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

scientific article published on 17 December 2018

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population

scientific article

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

scientific article

Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

scientific article published in February 2000

Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia

scientific article

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

scientific article

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

scientific article published on 30 December 2009

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient

scientific article published on 04 May 2007

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

scientific article

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

scientific article published on 01 March 2008

Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients

article

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

scientific article

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.

scientific article published on 27 November 2017

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

scientific article (publication date: April 2002)

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

scientific article published on 8 January 2010

Mutations in disguise

scientific article published on 01 October 2011

Mycobacterium tuberculosis Drives Expansion of Low-Density Neutrophils Equipped With Regulatory Activities

scientific article published on 27 November 2019

Newtonian to non-newtonian fluid transition of a model transient network

scientific article published on 25 April 2018

No association of GBA mutations and multiple system atrophy.

scientific article published in April 2013

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

scientific article published on 16 April 2014

Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly

scientific article published on 03 October 2018

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis

scientific article published on 01 May 2019

Notch1 regulates chemotaxis and proliferation by controlling the CC-chemokine receptors 5 and 9 in T cell acute lymphoblastic leukaemia

scientific article published on 09 December 2011

Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.

scientific article published on 19 July 2017

PRKCA and multiple sclerosis: association in two independent populations

scientific article published on 31 March 2006

Phase behavior and critical activated dynamics of limited-valence DNA nanostars

scientific article published on 09 September 2013

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

scientific article published on December 2016

Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

scientific article

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

scientific article published on 22 September 2009

Profiling the mutational landscape of coagulation factor V deficiency

scientific article published on 08 August 2019

Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen ?-chain gene as a novel mechanism for congenital afibrinogenaemia

article

Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease

scientific article published on 07 November 2019

Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation

scientific article published in June 2004

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

scientific article published in 2022

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.

scientific article published in August 1999

Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain

article

Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

article

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

scientific article

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

scientific article published on February 2017

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

scientific article published on 3 February 2015

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

scientific article published on 25 January 2012

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

scientific article published on 07 March 2017

The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia

scientific article published on 01 November 2005

The PDXK rs2010795 variant is not associated with Parkinson disease in Italy

scientific article published in March 2010

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

scientific article published on 20 October 2020

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

scientific article published in October 2010

The discovery of Mary's mutation.

scientific article

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

scientific article

The immunobiology of female predominance in primary biliary cholangitis

scientific article published on 25 October 2018

The intron-containing L3 ribosomal protein gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs

scientific article (publication date: 29 February 2000)

The molecular basis of quantitative fibrinogen disorders.

scientific article published on October 2006

Tryptophan hydroxylase type 2 variants modulate severity and outcome of addictive behaviors in Parkinson's disease

scientific article published on 17 May 2016

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

article

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

scientific article published on 20 February 2019

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

scientific article

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

scientific article published on 4 August 2016

cDNA cloning of turtle prion protein

article

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

scientific article published on 14 February 2017

List of works by Rosanna Asselta

A functional variant in ERAP1 predisposes to multiple sclerosis

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest

A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker

A new exon in the 5' untranslated region of the connexin32 gene

A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family.

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.

ABO histo-blood group might modulate predisposition to Crohn's disease and affect disease behavior.

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: gene and smoking status interaction.

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome

Autosomal recessive deficiencies of coagulation factors

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions

Coagulation factor V.

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population

Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop)

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion

Crohn's disease loci are common targets of protozoa-driven selection

DNAJC12 and dopa-responsive nonprogressive parkinsonism

Do tardive dyskinesia and L-dopa induced dyskinesia share common genetic risk factors? An exploratory study.

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Factor V deficiency.

Factor X Shanghai: a mutation disrupting translocation to the endoplasmic reticulum

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Functional and clinical implications of genetic structure in 1686 Italian exomes

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

Genetic analysis of Italian patients with congenital hyperinsulinism of infancy

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women.

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Glucocerebrosidase mutations in primary parkinsonism

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

Hereditary Hypofibrinogenemia with Hepatic Storage

Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter.

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

Impact of anti-androgenic therapies on COVID-19: an observational study in male population from a COVID-19 regional centre of Lombardy (Italy)

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Inherited defects of coagulation factor V: the hemorrhagic side.

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v