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List of works by Stefano Goldwurm

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

scientific article published in The Lancet

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

scientific article published in January 2005

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

scientific article

Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models

scientific article published on 28 July 2015

Alpha-synuclein repeat variants and survival in Parkinson's disease

scientific article

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

scientific article published on 8 October 2014

Analysis of ferritin genes in Parkinson disease

article

Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.

scientific article published on 17 October 2010

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

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

Atypical tauopathy in a patient with LRRK2-G2019S mutation and tremor-dominant Parkinsonism

scientific article

BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study

article

Biochemical and genetic defects underlying human congenital hypotransferrinemia

scientific article published on 01 January 2000

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

scientific article published on 12 January 2007

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

scientific article published on 2 October 2013

Case of congenital hypotransferrinemia suggests that tissue hypoxia during fetal development may cause hypospadias

scientific article published on 01 November 2000

Comment on "compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism"

scientific article published on 12 March 2010

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

scientific article published on March 2006

Correction: Microtubule Destabilization Is Shared by Genetic and Idiopathic Parkinson’s Disease Patient Fibroblasts.

scientific article published on 6 August 2012

Creation of a library of induced pluripotent stem cells from Parkinsonian patients.

scientific article

Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study

scientific article

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.

scientific article published on 28 October 2013

DNAJC12 and dopa-responsive nonprogressive parkinsonism

scientific article published on 11 September 2017

Dementia in Parkinson's disease: Is male gender a risk factor?

scientific article published on 2 March 2016

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

scientific article

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers

scientific article published in December 2005

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

scientific article

Evaluation of LRRK2 G2019S penetrance: Relevance for genetic counseling in Parkinson disease

scientific article published on 10 January 2007

Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome

scientific article published in January 2011

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling

scientific journal article

Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease

scientific article published on 4 January 2018

Generation of a transcription map distal to HLA-F.

scientific article

Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

scientific article published on 2 February 2018

Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene

scientific article published on 4 January 2018

Generation of an integration-free induced pluripotent stem cell line (CSC-43J) from a patient with sporadic Parkinson's disease

scientific article published on 4 January 2018

Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

scientific article published in March 2006

Genomewide association study for onset age in Parkinson disease

scientific article

Glucocerebrosidase mutations in primary parkinsonism

scientific article

HFE gene mutations in a population of Italian Parkinson's disease patients

scientific article published on 5 March 2008

Haemochromatosis after the discovery of HFE (“HLA-H”) ⬇️

scientific article published on December 1, 1997

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

scientific article

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study

article

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

Identification of a novel Krueppel-related zinc finger gene (ZNF184) mapping to 6p21.3

scientific article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis

scientific article published in February 1998

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

scientific article published on June 2006

Isolation and characterisation of cosmids to intervals within a 4.5Mb region at 6p21.3.

scientific article published on 01 January 1997

Kin-cohort analysis of LRRK2-G2019S penetrance in Parkinson's disease.

scientific article

LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample

scientific article published on 05 June 2006

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

scientific article

LRRK2-G2019S mutation is not associated with an increased cancer risk: a kin-cohort study.

scientific article

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Later age at onset in Parkinson's disease over twenty years in an Italian tertiary clinic

scientific article published on 03 September 2014

Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)

scientific article published on 04 May 2012

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

scientific article published on 12 March 2008

Microtubule Destabilization Is Shared by Genetic and Idiopathic Parkinson’s Disease Patient Fibroblasts ⬇️

scientific article published on May 22, 2012

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

scientific article

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

scientific article published on 01 September 2002

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease

scientific article

No association of GBA mutations and multiple system atrophy.

scientific article published in April 2013

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

scientific article published on 22 August 2014

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

scientific article published on 19 July 2017

Parkin absence accelerates microtubule aging in dopaminergic neurons.

scientific article published on 20 September 2017

Parkin analysis in early onset Parkinson's disease

scholarly article by F. Sironi et al published May 2008 in Parkinsonism and Related Disorders

Parkinson's disease beyond 20 years

scientific article published on 3 October 2014

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

scientific article

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study

scientific article published on 07 August 2020

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Protein-redistribution diet in a case of tyrosine hydroxylase enzyme deficiency

scientific article published on 28 March 2017

Psychiatric symptoms in Parkinson's disease assessed with the SCL-90R self-reported questionnaire

scientific article published on 6 October 2009

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

scientific article

Response to the letter to the editor by fung

scientific article published on 01 November 2000

SNCA variants are associated with increased risk for multiple system atrophy

scientific article

Screen for excess FMR1 premutation alleles among males with parkinsonism

scientific article published in July 2007

Screening LRRK2 gene mutations in patients with Parkinson's disease in Ghana

scientific article published on 14 August 2011

Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.

scientific article

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

scientific article

Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation

scientific article published in August 2006

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

scientific article

Swallowing disturbances in Parkinson's disease: a multivariate analysis of contributing factors

scientific article published on 6 October 2014

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

scientific article published on 30 August 2013

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

scientific article published on 25 January 2012

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

scientific article

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

scientific article published on 5 October 2017

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

scientific article

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

scientific article

The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3.

scientific article published in March 1998

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

scientific article published on 17 May 2016

VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome

scientific article published in January 2010

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

scientific article published on 01 January 2007

α-Synuclein multiplication analysis in Italian familial Parkinson disease

scientific article published in March 2010

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