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List of works by Alessio Di Fonzo

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

scientific article published on 15 September 2005

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

scientific article published on 07 November 2020

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

scientific article published on 22 April 2006

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 novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

scientific article published on 10 January 2015

Abnormal brain temperature in early-onset Parkinson's disease

scientific article published on 13 February 2016

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

scientific article published on 17 February 2017

Adaptive deep brain stimulation in a freely moving Parkinsonian patient

scientific article published on 21 May 2015

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

scientific article published on 30 January 2016

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

scientific article published on 01 August 2010

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

scientific article published on 5 November 2015

Clinical Reasoning: A 75-year-old man with parkinsonism, mood depression, and weight loss

scientific article published on 01 March 2018

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

scientific article published on March 2006

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

scientific article

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

scientific article published on 24 April 2020

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

scientific article

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

scientific article published on 19 April 2019

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort

scientific article published on 13 July 2020

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

scientific article

Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

scientific article published on 23 May 2018

Globus pallidus internus deep brain stimulation in PINK-1 related Parkinson's disease: A case report

scientific article

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

scientific article

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

scientific article published on 4 March 2018

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

scientific article

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

article

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

scientific article published on 24 October 2006

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

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

scientific article published on January 2017

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

scientific article published on 01 December 2019

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

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

scientific article published on 19 September 2018

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

scientific article

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

scientific article published on 01 March 2019

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

scientific article published in January 2007

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

scientific article

Nucleo-cytoplasmic transport defects and protein aggregates in neurodegeneration

scientific article published on 03 July 2020

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

scientific article published on 03 April 2014

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 2003

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

scientific article published on 20 January 2007

Parkinsonism in diseases predominantly presenting with dystonia

scientific article published on 21 November 2019

Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin's Lymphoma: A Case Report

scientific article published on 10 August 2017

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

scientific article published on 01 January 2009

Real life evaluation of safinamide effectiveness in Parkinson's disease

scientific article published on 13 February 2018

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy

scientific article published on 02 April 2020

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

scientific article published on 24 August 2007

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

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

scientific article published in August 2006

Syncope and autonomic failure in a middle-aged man

scientific article published on 15 May 2018

Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of SNORD118 gene

scientific article published on 13 May 2020

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

scientific article published on 21 August 2008

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

scientific article published on 30 September 2006

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

scientific article

The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer's Disease and Parkinson's Disease

scientific article published on 22 May 2020

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

scientific article published on 20 October 2020

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

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

scientific article published on 11 March 2022

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

scientific article

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

scientific article published on 12 July 2019

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

scientific article published on 27 July 2011

Validation of the Italian version of carers' quality-of-life questionnaire for parkinsonism (PQoL Carer) in progressive supranuclear palsy

scientific article published on 12 June 2019

Validation of the Italian version of the PSP Quality of Life questionnaire

scientific article published on 26 July 2019

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

scientific article published on 26 August 2017

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