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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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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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Comparing GBA1 ‐Parkinson's disease and idiopathic Parkinson's disease: α‐Synuclein oligomers and synaptic density as biomarkers in the skin biopsy

Brain pathology (Zurich, Switzerland), 2024-09, p.e13284

2024

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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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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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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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Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease

Nature genetics, 2024-07, Vol.56 (7), p.1371-1376

2024

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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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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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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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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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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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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

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

Comparing GBA1 ‐Parkinson's disease and idiopathic Parkinson's disease: α‐Synuclein oligomers and synaptic density as biomarkers in the skin biopsy

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

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

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

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease

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

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

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

Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors

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)

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