List of works - Vincenzo Bonifati

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease

scientific article published on 22 December 2015

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis

scientific article published on 03 June 2016

A common LRRK2 mutation in idiopathic Parkinson's disease

scientific article published on 29 January 2005

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 new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism

scientific article published on 22 July 2014

ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation.

scientific article

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.

scientific article published on 7 March 2018

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

scientific article published on 8 October 2014

An update on the genetics of dementia with Lewy bodies

scientific article

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease

scientific article published on 24 March 2012

Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan

scientific article

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

article

Autosomal recessive parkinsonism

scientific article published on January 2012

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients

scientific article published on 10 December 2013

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

scientific article published on 12 January 2007

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ⬇️

scientific article published on 13 October 2011

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia

scientific article

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

scientific article

Clinical features and neuroimaging of PARK7-linked parkinsonism

scientific article (publication date: July 2003)

Cognitive improvement during Tolcapone treatment in Parkinson's disease.

scientific article published in January 1997

Common neurodegenerative diseases: dissection by genome-wide association

scientific article published on September 2007

Complex relationship between Parkin mutations and Parkinson disease

scientific article

Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants

scientific article

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

scientific article published on March 2006

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

scientific article published in November 2017

Correction: Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles

scientific article published on 28 December 2017

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia

scientific article

Deciphering Parkinson's disease--PARK8.

scientific article

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

scientific article

Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish

scientific article

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Effect of resveratrol on mitochondrial function: implications in parkin-associated familiar Parkinson's disease

scientific article published on 25 February 2014

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

article

FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophy

scientific journal article

Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study

scientific article

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

scientific article

Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles

scientific article

Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania

scientific article published in January 2014

Genetics of Parkinson's disease--state of the art, 2013.

scientific article

Genetics of movement disorders in the next-generation sequencing era.

scientific article published on 22 February 2016

Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease.

scientific article

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

scientific article published on 26 October 2008

High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

scientific article

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

scientific article

How much phenotypic variation can be attributed to parkin genotype?

scientific article

Is GIGYF2 the defective gene at the PARK11 locus?

scientific article published in May 2009

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

scholarly article by Marialuisa Quadri et al published July 2018 in Lancet Neurology

LRRK2 MUTATION ANALYSIS IN PARKINSON DISEASE FAMILIES WITH EVIDENCE OF LINKAGE TO PARK8

article

LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease

scientific article published on 18 April 2007

Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease

scientific article (publication date: March 2004)

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)

scientific journal article

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes

scientific article published on 17 March 2015

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

scientific article

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

scientific article published on 16 February 2012

Mutations in TMEM230 are not a common cause of Parkinson's disease.

scientific article published on 16 January 2017

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

scientific article

Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease

scientific article

Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation

scientific article published in January 2007

Novel parkin mutations detected in patients with early-onset Parkinson's disease

scientific article

Olfactory heterogeneity in LRRK2 related Parkinsonism.

scientific article

PARK11 is not linked with Parkinson's disease in European families

article

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

scientific article published on 10 May 2014

PARK6-linked parkinsonism occurs in several European families

scientific article published in January 2002

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family

scientific article

Pallidopyramidal disease: a misnomer?

scientific article published on July 2010

Parkinson's disease: the LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics

scientific article

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

scientific article published on 19 April 2016

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

scientific article (publication date: July 2008)

Primary familial brain calcification: Genetic analysis and clinical spectrum

scientific article published on 4 October 2014

Primary familial brain calcification: update on molecular genetics

scientific article published on 17 February 2015

Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia

scientific article published on January 2017

Recent advances in the genetics of dementia with lewy bodies

scientific article published on May 2008

Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease

scientific article published on 19 November 2014

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

scientific article published in August 2006

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease

scientific article published on November 2003

TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?

scientific article published on June 2017

The CYP2D6B allele is not overrepresented in a population of German patients with idiopathic Parkinson's disease

scientific article published on November 1996

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

scientific article published on 2 September 2003

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population

scientific article published on 21 August 2008

The beginning of our new journey

scientific article published in January 2018

The genetics of Parkinson's disease: progress and therapeutic implications

scientific article published on January 2013

The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2

scientific article

Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred

scientific article

Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes.

scientific article published on 17 October 2016

List of works by Vincenzo Bonifati

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis

A common LRRK2 mutation in idiopathic Parkinson's disease

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

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

A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism

ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation.

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.

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

An update on the genetics of dementia with Lewy bodies

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease

Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

Autosomal recessive parkinsonism

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients

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

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ⬇️

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

Clinical features and neuroimaging of PARK7-linked parkinsonism

Cognitive improvement during Tolcapone treatment in Parkinson's disease.

Common neurodegenerative diseases: dissection by genome-wide association

Complex relationship between Parkin mutations and Parkinson disease

Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants

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

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

Correction: Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia

Deciphering Parkinson's disease--PARK8.

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

Effect of resveratrol on mitochondrial function: implications in parkin-associated familiar Parkinson's disease

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophy

Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles

Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania

Genetics of Parkinson's disease--state of the art, 2013.

Genetics of movement disorders in the next-generation sequencing era.

Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease.

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

How much phenotypic variation can be attributed to parkin genotype?

Is GIGYF2 the defective gene at the PARK11 locus?

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

LRRK2 MUTATION ANALYSIS IN PARKINSON DISEASE FAMILIES WITH EVIDENCE OF LINKAGE TO PARK8

LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease

Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

Mutations in TMEM230 are not a common cause of Parkinson's disease.

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease

Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation

Novel parkin mutations detected in patients with early-onset Parkinson's disease

Olfactory heterogeneity in LRRK2 related Parkinsonism.

PARK11 is not linked with Parkinson's disease in European families

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

PARK6-linked parkinsonism occurs in several European families

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family

Pallidopyramidal disease: a misnomer?

Parkinson's disease: the LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

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

Primary familial brain calcification: Genetic analysis and clinical spectrum

Primary familial brain calcification: update on molecular genetics

Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia

Recent advances in the genetics of dementia with lewy bodies

Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease

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

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease

TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?

The CYP2D6B allele is not overrepresented in a population of German patients with idiopathic Parkinson's disease

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes