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List of works by Grazia Annesi

A SLC20A2 mutation identified in an asymptomatic patient with brain calcification

scientific article published on 17 November 2016

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

scientific article

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy

scientific article published on 7 December 2017

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy

scientific article published in September 2017

A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification

scientific article published on 7 May 2015

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

scientific article published in March 2004

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 CHCHD2 gene in familial Parkinson's disease from Calabria

scientific article published on 21 October 2016

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson’s disease in Southern Italy

article

Association study of dopamine D2, D3 receptor gene polymorphisms with motor fluctuations in PD.

scientific article published in March 2002

Author’s reply to the comment of Sironi et al. on “Compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism”

article

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation

scientific article published on 23 April 2015

Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report

scientific article published in June 2017

Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data

scientific article

Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene.

scientific article published in December 2004

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

scientific article published in March 2006

Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism

article

Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212].

scientific article published on 15 December 2017

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

scientific article published in November 2005

Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families

article

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine ⬇️

scientific article published on 08 February 2013

Dysbindin C–A–T haplotype is associated with thicker medial orbitofrontal cortex in healthy population

scientific article published on 22 December 2010

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

scientific article published on 12 June 2007

Erratum: Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the Parkin gene. Mov Disord 2004;19(12):1451-1453

article

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

scientific article

FRAXE intermediate alleles are associated with Parkinson's disease.

scientific article published in September 2004

Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia

scientific article published on 25 September 2014

Familial essential tremor is not associated with SCA-12 mutation in southern Italy

article

Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy

scientific article published on 26 April 2014

Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy

scientific article

Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area

scientific article published on 20 October 2011

Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease - a multicenter study

scientific article

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

scientific article published in February 2006

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

scientific article published in February 2008

HOMER1 Promoter Analysis in Parkinson’s Disease: Association Study with Psychotic Symptoms

scholarly article by Vincenzo De Luca et al published 2009 in Neuropsychobiology

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

scientific article published on 5 November 2012

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

scientific article

Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease

scientific article published on 7 March 2008

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

scientific article

Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease

article

Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study

scientific article

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

scientific article published on 24 April 2015

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant

scientific article published on 01 October 2007

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

scientific article

Mutational analysis of COASY in an Italian patient with NBIA

article

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

scientific article

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

scientific article

Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease

scientific article

No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease in a case-control sample

scientific article

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study

scientific article

Oxidative stress in myotonic dystrophy type 1.

scientific article published in July 2005

PCDH19 mutations in female patients from Southern Italy

scientific article published on 30 August 2014

Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study

scientific article published in March 2007

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

scientific article published on 17 August 2013

Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease.

scientific article

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

scientific article published on 22 July 2011

Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study

scientific article published in April 2005

Startle epilepsy complicating aspartylglucosaminuria.

scientific article published in March 2004

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study

scientific article published on 24 December 2014

The FRAGAMP study: environmental and genetic factors in Parkinson's disease, methods and clinical features

scientific article published in February 2010

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

scientific article (publication date: September 2003)

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sj�gren syndrome

Voluptuary habits and clinical subtypes of Parkinson's disease: the FRAGAMP case-control study

scientific article published on October 2010

Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation

scientific article published in October 2004

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