A. Tucci

发表

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

A. Singleton, J. Hardy, K. Bhatia, 2016, Brain : a journal of neurology.

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

G. Scuvera, S. Avignone, D. Milani, 2018, Cytogenetic and Genome Research.

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

D. Bianchessi, G. Scuvera, D. Milani, 2017, Human Genetics.

2‐Chloroadenosine modulates PAR‐1 and IL‐23 expression and enhances docetaxel effects on PC3 cells

S. Bracarda, Z. Culig, I. Bellezza, 2008, The Prostate.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Demis A. Kia, Miguel Ángel Martínez, 2020, Nature Communications.

G2P: Using machine learning to understand and predict genes causing rare neurological disorders

E. McDonagh, J. Hardy, A. Rendon, 2018, bioRxiv.

Novel CLN3 mutation causing autophagic vacuolar myopathy

J. Hardy, C. Cereda, E. Marchioni, 2014, Neurology.

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

D. Smedley, N. Wood, P. Chinnery, 2020, European Journal of Human Genetics.

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

G. Scuvera, D. Milani, S. Esposito, 2017, European journal of medical genetics.

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism☆

A. Singleton, K. Bhatia, A. Lees, 2015, Neurobiology of Aging.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

2-Chloroadenosine and human prostate cancer cells.

I. Bellezza, A. Tucci, A. Minelli, 2008, Anti-cancer agents in medicinal chemistry.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

D. Milani, S. Esposito, A. Tucci, 2016, BMC Medical Genetics.

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

J. Schmahmann, Soma Das, S. Facchini, 2022, Neurology.

Inhibition of NF-κB nuclear translocation via HO-1 activation underlies α-tocopheryl succinate toxicity.

I. Bellezza, A. Tucci, F. Galli, 2012, The Journal of nutritional biochemistry.

Neuronal intranuclear inclusion disease is genetically heterogeneous

Nick C Fox, J. Hardy, D. Dickson, 2020, Annals of clinical and translational neurology.

Genetic variability at the PARK16 locus

M. Nalls, A. Singleton, J. Hardy, 2010, European Journal of Human Genetics.

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

K. Bötzel, R. Jech, B. Haslinger, 2020, Annals of neurology.

The use of next generation sequencing technologies to dissect the aetiologies of neurodegenerative diseases

A. Tucci, 2013 .

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2012, Neurology.

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

N. Wood, H. Houlden, J. Polke, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

G. Scuvera, D. Milani, S. Esposito, 2017, American journal of medical genetics. Part A.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The absence that makes the difference: choroidal abnormalities in Legius syndrome

G. Melloni, C. Cesaretti, S. Esposito, 2017, Journal of Human Genetics.

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

G. Scuvera, D. Milani, S. Esposito, 2016, Molecular Cytogenetics.

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

D. Hernandez, A. Singleton, H. Mefford, 2013, Human mutation.

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

D. Milani, S. Esposito, A. Tucci, 2016, American journal of medical genetics. Part A.

Differential involvement of reactive oxygen species and nucleoside transporters in cytotoxicity induced by two adenosine analogues in human prostate cancer cells

Z. Culig, I. Bellezza, C. Conte, 2009, The Prostate.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

The absence that makes the difference: choroidal abnormalities in Legius syndrome

G. Melloni, C. Cesaretti, S. Esposito, 2017, Journal of Human Genetics.

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

M. Edwards, K. Bhatia, N. Wood, 2010, Movement disorders : official journal of the Movement Disorder Society.

Hereditary Spastic Paraplegia in Greece: Characterisation of a previously unexplored population using next generation sequencing

H. Houlden, G. Koutsis, M. Panas, 2015, European Journal of Human Genetics.

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

G. Carvill, T. Südhof, Christian Rosenmund, 2020, bioRxiv.

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

A. Singleton, J. Hardy, D. Trabzuni, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

J. Hardy, V. Plagnol, N. Wood, 2012, Neuroscience Letters.

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings

G. Koutsis, M. Panas, G. Karadima, 2015, Journal of the Neurological Sciences.

A GCC repeat expansion in AFF3 is a significant cause of intellectual disability

A. Sharp, B. Paten, J. Veldink, 2023, medRxiv.

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

J. Hardy, J. Kulisevsky, J. Clarimón, 2012, Movement disorders : official journal of the Movement Disorder Society.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Sonja W. Scholz, A. Chiò, B. Traynor, 2023, Brain : a journal of neurology.

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

A. Bayat, S. Efthymiou, H. Houlden, 2021, Neurogenetics.

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

G. Scuvera, D. Milani, S. Esposito, 2016, Molecular Cytogenetics.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2020, Nature Communications.

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

D. Bianchessi, G. Scuvera, D. Milani, 2017, Human Genetics.

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Matthew A. Wiles, Ellen C. Smith, Jack D. Sanders, 2023, Nature.

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Henrik, Houlden, J. Rothman, 2019 .

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

J. Rothman, D. Kullmann, D. Timmann, 2019, Annals of neurology.

7p22.1 microduplication syndrome: Refinement of the critical region.

D. Milani, S. Esposito, L. Pezzani, 2017, European journal of medical genetics.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2019, npj Parkinson's Disease.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.

Stratified analyses refine association between TLR7 rare variants and severe COVID-19

K. Rawlik, N. Sacchi, N. Love, 2024, HGG advances.

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis

H. Ishiura, F. Magrinelli, A. Tucci, 2024, The Lancet Neurology.

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

C. Blauwendraat, M. Ryten, J. Polke, 2024, Movement disorders : official journal of the Movement Disorder Society.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Julius O. B. Jacobsen, A. Pagnamenta, R. Houlston, 2023, medRxiv.