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DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Annals of neurology, 2017-10, Vol.82 (4), p.640-646

2017

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Capture-seq protocol and TE-reX pipeline guidelines for detection of recombination of repeat elements in short- and long-DNA reads libraries

STAR protocols, 2023-03, Vol.4 (1), p.102027, Article 102027

2023

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First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

Frontiers in genetics, 2018-10, Vol.9, p.464-464

2018

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Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

Journal of human genetics, 2016-12, Vol.61 (12), p.977-984

2016

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β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration

Cells (Basel, Switzerland), 2022-07, Vol.11 (15), p.2343

2022

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The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1

Frontiers in molecular neuroscience, 2018-02, Vol.11, p.64-64

2018

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Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.369-377

2020

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Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

Journal of human genetics, 2015-09, Vol.60 (9), p.467-471

2015

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A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants

Parkinsonism & related disorders, 2020-11, Vol.80, p.138-141

2020

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Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2024-02, p.e32976-e32976

2024

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

Scientific reports, 2017-10, Vol.7 (1), p.12702-13, Article 12702

2017

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A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

Annals of neurology, 2021-04, Vol.89 (4), p.834-839

2021

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Saposin D variants are not a common cause of familial Parkinson's disease among Italians

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.e71-e71

2020

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A lysosome‐plasma membrane‐sphingolipid axis linking lysosomal storage to cell growth arrest

The FASEB journal, 2018-10, Vol.32 (10), p.5685-5702

2018

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Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk

Movement disorders, 2022-06, Vol.37 (6), p.1202-1210

2022

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Screening of LRP10 mutations in Parkinson's disease patients from Italy

Parkinsonism & related disorders, 2021-08, Vol.89, p.17-21

2021

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2,6‐Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure–Activity Relationships

ChemMedChem, 2017-08, Vol.12 (16), p.1303-1318

2017

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Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A

Journal of molecular neuroscience, 2022-07, Vol.72 (7), p.1482-1499

2022

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Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium

Neurology, 2022-08, Vol.99 (7), p.e698

2022

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

Parkinsonism & related disorders, 2019-06, Vol.63, p.66-72

2019

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Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors

Annals of neurology, 2022-08, Vol.92 (2), p.270-278

2022

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

Neurology. Genetics, 2020-12, Vol.6 (6), p.e523-e523

2020

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

Parkinsonism & related disorders, 2020-05, Vol.74, p.1-5

2020

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Inside Cover: 2,6‐Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure–Activity Relationships (ChemMedChem 16/2017)

ChemMedChem, 2017-08, Vol.12 (16), p.1225-1225

2017

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Identification of novel PD genes by whole-exome sequencing in Italian families

Parkinsonism & related disorders, 2016-01, Vol.22, p.e144-e144

2016

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DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Capture-seq protocol and TE-reX pipeline guidelines for detection of recombination of repeat elements in short- and long-DNA reads libraries

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome

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

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

Saposin D variants are not a common cause of familial Parkinson's disease among Italians

A lysosome‐plasma membrane‐sphingolipid axis linking lysosomal storage to cell growth arrest

Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk

Screening of LRP10 mutations in Parkinson's disease patients from Italy

2,6‐Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure–Activity Relationships

Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium

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

Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors

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

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

Inside Cover: 2,6‐Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure–Activity Relationships (ChemMedChem 16/2017)

Identification of novel PD genes by whole-exome sequencing in Italian families

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