List of works - Alessio Di Fonzo

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

scientific article published in The Lancet

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

scientific article

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

scientific article published in January 2005

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

scientific article

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan

scientific article published on 22 April 2006

The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.

scientific article published on 30 September 2006

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

scientific article published on March 2006

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

scientific article published on 30 April 2009

Adaptive deep brain stimulation in a freely moving Parkinsonian patient

scientific article published on 21 May 2015

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

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

scientific article

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

scientific article

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 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 LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease

scientific article published on 26 October 2005

Cerebellar and Motor Cortical Transcranial Stimulation Decrease Levodopa-Induced Dyskinesias in Parkinson's Disease

scientific article published on 5 November 2015

Autophagy in motor neuron disease: Key pathogenetic mechanisms and therapeutic targets

scientific article published on 30 January 2016

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

scientific article published in August 2006

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

scientific article published in January 2007

Adaptive deep brain stimulation controls levodopa-induced side effects in Parkinsonian patients

scientific article published on 17 February 2017

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation

scientific article published on 24 August 2007

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

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

scientific article published on 5 October 2017

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

scientific article published on January 2017

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

scientific article published on 10 January 2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

scientific article published on 07 May 2014

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

scientific article published on 18 October 2018

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

scientific article published on 15 September 2005

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

scientific article published on 27 July 2011

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

scientific article published on 20 January 2007

Real life evaluation of safinamide effectiveness in Parkinson's disease

scientific article published on 13 February 2018

Obesity and headache/migraine: the importance of weight reduction through lifestyle modifications

scientific article published on 03 April 2014

LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate

scientific article published on 24 October 2006

Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation

scientific article published on 01 January 2009

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

scientific article

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

article

GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches

scientific article published on 19 April 2019

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

scientific article

Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.

scientific article

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

scientific article published on 19 September 2018

In vitro models of multiple system atrophy from primary cells to induced pluripotent stem cells.

scientific article published on 4 March 2018

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

scientific article

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

scientific article published on 26 August 2017

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

scientific article published on 01 March 2019

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis

scientific article

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

scientific article published on 01 August 2010

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

scientific article

Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives

scientific article published on 12 July 2019

Abnormal brain temperature in early-onset Parkinson's disease

scientific article published on 13 February 2016

List of works by Alessio Di Fonzo

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

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

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

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan

The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.

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

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

Adaptive deep brain stimulation in a freely moving Parkinsonian patient

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

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

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

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

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

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease

Cerebellar and Motor Cortical Transcranial Stimulation Decrease Levodopa-Induced Dyskinesias in Parkinson's Disease

Autophagy in motor neuron disease: Key pathogenetic mechanisms and therapeutic targets

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

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

Adaptive deep brain stimulation controls levodopa-induced side effects in Parkinsonian patients

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation

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

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

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

Real life evaluation of safinamide effectiveness in Parkinson's disease

Obesity and headache/migraine: the importance of weight reduction through lifestyle modifications

LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate

Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

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

GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches

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

Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

In vitro models of multiple system atrophy from primary cells to induced pluripotent stem cells.

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

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

Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives

Abnormal brain temperature in early-onset Parkinson's disease

Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study