L. Straniero

发表

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

R. Krüger, V. Rimoldi, S. Duga, 2017, Scientific Reports.

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

S. Duga, L. Straniero, A. Casiraghi, 2017, ChemMedChem.

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

S. Mantero, T. Hara, S. Duga, 2020, Molecular therapy. Methods & clinical development.

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

G. Comi, S. Corti, V. Rimoldi, 2021, Parkinsonism & related disorders.

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

D. Hernandez, A. Singleton, P. May, 2022, Neurology.

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

V. Rimoldi, R. Cilia, S. Duga, 2020, Brain : a journal of neurology.

DNAJC12 and dopa‐responsive nonprogressive parkinsonism

V. Sossi, A. Priori, N. Hattori, 2017, Annals of neurology.

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

A. Armirotti, S. Duga, G. Lunghi, 2022, Cells.

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease

D. Hernandez, C. Blauwendraat, M. Farrer, 2022, Neurology.

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

N. Bresolin, G. Comi, S. Corti, 2020, Parkinsonism & related disorders.

The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited

D. Hernandez, A. Singleton, P. May, 2022, Movement disorders : official journal of the Movement Disorder Society.

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

S. Salani, N. Bresolin, G. Comi, 2021, Annals of neurology.

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

N. Bresolin, G. Comi, S. Duga, 2020, Neurology: Genetics.

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

V. Rimoldi, E. Piozzi, R. Asselta, 2014, Gene.

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

R. Krüger, V. Rimoldi, S. Duga, 2017, Scientific Reports.

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

S. Duga, E. Chiricozzi, G. Lunghi, 2022, Journal of Molecular Neuroscience.

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

S. Duga, E. Chiricozzi, G. Lunghi, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

D. Hernandez, A. Singleton, M. Iles, 2023, Movement disorders : official journal of the Movement Disorder Society.

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

Piero Carninci, M. Frith, G. Pascarella, 2023, STAR Protocols.

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

S. Duga, P. Melotti, M. Seia, 2016, Journal of Human Genetics.

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

V. Rimoldi, E. Piozzi, R. Asselta, 2015, Journal of Human Genetics.

Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study

D. Hernandez, P. May, M. Farrer, 2022, Movement disorders : official journal of the Movement Disorder Society.

Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease.

D. Hernandez, A. Singleton, P. May, 2021, Journal of Parkinson's disease.

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

V. Rimoldi, S. Duga, R. Asselta, 2018, Frontiers in Genetics.

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

N. Bresolin, G. Comi, S. Corti, 2019, Parkinsonism & related disorders.

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

Shankaracharya, C. Blauwendraat, J. Landers, 2022, Movement disorders : official journal of the Movement Disorder Society.

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

V. Rimoldi, S. Duga, G. Pezzoli, 2020, Parkinsonism & Related Disorders.

The SPID-GBA study

V. Rimoldi, R. Cilia, S. Duga, 2020, Neurology: Genetics.

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

J. Landers, C. Mariani, I. Pichler, 2018, Front. Mol. Neurosci..

Identification of a novel large deletion in a patient with severe factor V deficiency using an in‐house F5 MLPA assay

S. Duga, A. Pavlova, E. Paraboschi, 2015, Haemophilia : the official journal of the World Federation of Hemophilia.

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

D. Hernandez, A. Singleton, P. May, 2022 .

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

D. Hernandez, A. Singleton, P. May, 2022 .