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Levodopa-carbidopa intestinal gel infusion (LCIG) in Parkinson disease with genetic mutations

Neurological sciences, 2024-04, Vol.45 (4), p.1489-1497

2024

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Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease

Neurology, 2007-04, Vol.68 (14), p.1141

2007

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

Journal of medical genetics, 2005-11, Vol.42 (11), p.e65-e65

2005

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Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

Neurology, 2005-07, Vol.65 (1), p.87

2005

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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Neurology, 2008-04, Vol.70 (16 Pt 2), p.1456

2008

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Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis

Gastroenterology (New York, N.Y. 1943), 1998-02, Vol.114 (2), p.311-318

1998

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Atypical tauopathy in a patient with LRRK2-G2019S mutation and tremor-dominant Parkinsonism

Neuropathology and applied neurobiology, 2012-06, Vol.38 (4), p.382-386

2012

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No association of GBA mutations and multiple system atrophy

European journal of neurology, 2013-04, Vol.20 (4), p.e61-e62

2013

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Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome

European journal of neurology, 2011-01, Vol.18 (1), p.195-197

2011

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PP213-SUN: Swallowing Disturbances in Parkinson’s Disease

Clinical nutrition (Edinburgh, Scotland), 2014-09, Vol.33, p.S99-S99

2014

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Comment on “Compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism”

Parkinsonism & related disorders, 2010-06, Vol.16 (5), p.360-361

2010

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Cyclin-G-associated kinase modifies -synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study

Human molecular genetics, 2011-04, Vol.20 (8), p.1478-1487

2011

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Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers

Neurology, 2005-12, Vol.65 (12), p.1971

2005

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Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

Human mutation, 2002-09, Vol.20 (3), p.231-231

2002

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Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models

Stem cell reports, 2015-08, Vol.5 (2), p.174-184

2015

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P3.030 GBA mutations and Parkinson disease in Italian population

Parkinsonism & related disorders, 2009, Vol.15, p.S155-S156

2009

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Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease

American journal of human genetics, 2008-04, Vol.82 (4), p.822-833

2008

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

The Lancet (British edition), 2005-01, Vol.365 (9457), p.412-415

2005

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1.164 Psychiatric symptoms in Parkinson's disease: An assessment in 486 Italian patients

Parkinsonism & related disorders, 2007, Vol.13, p.S50-S50

2007

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GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling

Human molecular genetics, 2009-12, Vol.18 (23), p.4629-4639

2009

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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Neurology, 2007-05, Vol.68 (19), p.1557

2007

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Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.748-752

2005

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Haplotype analysis in Australian hemochromatosis patients : evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis

American journal of human genetics, 1995-02, Vol.56 (2), p.428-433

1995

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H63D is an haemochromatosis associated allele

Gut, 1998-09, Vol.43 (3), p.441-441

1998

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Haemochromatosis after the discovery of HFE (“HLA-H”)

Gut, 1997-12, Vol.41 (6), p.855-856

1997

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Levodopa-carbidopa intestinal gel infusion (LCIG) in Parkinson disease with genetic mutations

Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease

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

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis

Atypical tauopathy in a patient with LRRK2-G2019S mutation and tremor-dominant Parkinsonism

No association of GBA mutations and multiple system atrophy

Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome

PP213-SUN: Swallowing Disturbances in Parkinson’s Disease

Comment on “Compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism”

Cyclin-G-associated kinase modifies -synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models

P3.030 GBA mutations and Parkinson disease in Italian population

Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease

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

1.164 Psychiatric symptoms in Parkinson's disease: An assessment in 486 Italian patients

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

Haplotype analysis in Australian hemochromatosis patients : evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis

H63D is an haemochromatosis associated allele

Haemochromatosis after the discovery of HFE (“HLA-H”)

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