A. Fonzo

发表

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

R. Erro, A. Fonzo, E. Monfrini, 2018, Current Neurology and Neuroscience Reports.

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

A. Fonzo, G. Compagnoni, 2019 .

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

B. Oostra, Rou-shayn Chen, Hsiu-Chen Chang, 2008, Neurogenetics.

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

N. Bresolin, G. Comi, S. Corti, 2011, European Journal of Human Genetics.

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

S. Corti, A. Fonzo, Emanuele Frattini, 2016, Molecular and Cellular Neuroscience.

Mutational analysis of COQ2 in patients with MSA in Italy

N. Bresolin, G. Comi, S. Corti, 2016, Neurobiology of Aging.

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

Nobutaka Hattori, Yi-Hsin Weng, Vincenzo Bonifati, 2005, Parkinsonism & related disorders.

Parkinsonism and ataxia

A. Fonzo, G. Franco, G. Lazzeri, 2021, Journal of the Neurological Sciences.

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

N. Bresolin, G. Comi, S. Corti, 2007, Neurogenetics.

Oligomeric α-synuclein and tau aggregates in NDEVs differentiate Parkinson's disease from atypical parkinsonisms

C. Fenoglio, F. Guerini, C. Agliardi, 2023, Neurobiology of Disease.

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

W. Oyen, M. Horstink, B. Oostra, 2009, Neurology.

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

B. Oostra, Rou-shayn Chen, Hsiu-Chen Chang, 2006, Neurogenetics.

A Practical Approach to Early-Onset Parkinsonism

G. Riboldi, S. Frucht, A. Fonzo, 2021, Journal of Parkinson's disease.

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

R. Marconi, M. Onofrj, R. Uitti, 2006, European Journal of Human Genetics.

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

M. Canesi, C. Mariani, G. Pezzoli, 2005, Journal of Medical Genetics.

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

Vincenzo Bonifati, Cristina Sampaio, Joaquim Ferreira, 2005, The Lancet.

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

N. Bresolin, G. Comi, M. Crimi, 2003, Human mutation.

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

Sara Marceglia, Aristide Merola, Alberto Priori, 2017, Movement disorders : official journal of the Movement Disorder Society.

Hallucinations in Neurological Disorders

A. Fonzo, E. Monfrini, A. Arighi, 2018 .

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

N. Bresolin, G. Comi, C. Lamperti, 2005, Journal of the Neurological Sciences.

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

A. Priori, T. Bocci, M. Vergari, 2016, The Cerebellum.

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

B. Oostra, V. Bonifati, Y. Wu-Chou, 2008, Neurology.

The Role of SNCA Rep 1 Microsatellite in Parkinson ’ s Disease Progression

Giorgio, Bono, C. Magnani, 2017 .

Adaptive deep brain stimulation in patients with Parkinson’s disease: phase II clinical trial preliminary results

A. Priori, S. Marceglia, F. Cogiamanian, 2015, Journal of Neurological Sciences.

Novel missense mutation and large deletion of GNE gene in autosomal‐recessive inclusion‐body myopathy

N. Bresolin, G. Comi, P. Baron, 2003, Muscle & nerve.

Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

M. Zedde, R. Pascarella, F. Valzania, 2022 .

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

P. Kolatkar, J. Liu, L. Skipper, 2006, Human Genetics.

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

C. Mariani, B. Oostra, A. Antonini, 2006, Parkinsonism & related disorders.

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

R. Marconi, M. Horstink, B. Oostra, 2007, Neurology.

Mutational analysis of COQ2 in patients with MSA in Italy

N. Bresolin, G. Comi, S. Corti, 2016, Neurobiology of Aging.

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

G. Pezzoli, S. Goldwurm, G. Meco, 2005, Journal of Medical Genetics.

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

A. Priori, T. Bocci, M. Vergari, 2015, The Cerebellum.

Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain

N. Bresolin, G. Comi, M. Crimi, 2003, Neurology.

The Role of SNCA Rep1 Microsatellite in Parkinson’s Disease Progression

C. Magnani, R. Cantello, S. Goldwurm, 2017 .

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

F. Valzania, C. Lucchi, A. Fonzo, 2024, Biomolecules.

Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation.

R. Pascarella, A. Versari, F. Valzania, 2023, Journal of the Neurological Sciences.