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Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.

Riccardo Carbone, Laura Rovedatti, Marco Vincenzo Lenti, Daniela Furlan, Edoardo Errichiello, Simone Gana, Ombretta Luinetti, Giovanni Arpa, Costanza Alvisi, Federico De Grazia, Enza Maria Valente, Fausto Sessa, Marco Paulli, Alessandro Vanoli, Antonio Di Sabatino,

<h4>Background</h4>Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised.<h4>Aims</h4>To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs.<h4>Methods</h4>This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Age, gender, history of familial polyposis syndromes, DP/SML ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2021, :]

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Neuropsychological assessment and virtual reality training of social prediction in patients with cerebellar malformation

Cosimo Urgesi, Niccolò Butti, Alessandra Finisguerra, Emilia Biffi, Enza Maria Valente, Romina Romaniello, Renato Borgatti,

It has been proposed that impairments of the predictive function exerted by the cerebellum may account for social cognition deficits. Here, we integrated cerebellar functions in a predictive coding framework to elucidate how cerebellar alterations could affect the predictive processing of others’ behavior. Experiment 1 demonstrated that cerebellar patients were ... Read more >>

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Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Sara Nuovo, Vesna Brankovic, Caterina Caputi, Antonella Casella, Vincenzo Nigro, Vincenzo Leuzzi, Enza Maria Valente,

Mutations in the OPHN1 gene cause a rare X-linked recessive neurodevelopmental disorder characterized by intellectual disability, variably associated with cerebellar hypoplasia and distinctive facial appearance. In most of cases so far reported, the identified genomic variants involve the region encoding the central RhoGAP domain of the oligophrenin-1 protein, and are ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, 185(5):1575-1581]

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CASK related disorder: Epilepsy and developmental outcome.

Thea Giacomini, Sara Nuovo, Ginevra Zanni, Maria Margherita Mancardi, Raffaella Cusmai, Chiara Pepi, Enrico Bertini, Enza Maria Valente, Roberta Battini, Annarita Ferrari, Romina Romaniello, Claudio Zucca, Renato Borgatti, Sara Uccella, Mariasavina Severino, Pasquale Striano, Angela Pistorio, Giulia Prato, Elisa De Grandis, Lino Nobili, Livia Pisciotta,

<h4>Objective</h4>CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the electroclinical features of epilepsy in patients with CASK pathogenic variants and their relationship with developmental delay.<h4>Methods</h4>this national multicentre cohort included genetically confirmed patients with different CASK pathogenic variants. ... Read more >>

Eur J Paediatr Neurol (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2021, 31:61-69]

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Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.

Micol Avenali, Silvia Cerri, Gerardo Ongari, Cristina Ghezzi, Claudio Pacchetti, Cristina Tassorelli, Enza Maria Valente, Fabio Blandini,

<h4>Background</h4>GBA mutations are the commonest genetic risk factor for Parkinson's disease (PD) and also impact disease progression.<h4>Objective</h4>The objective of this study was to define a biochemical profile that could distinguish GBA-PD from non-mutated PD.<h4>Methods</h4>29 GBA-PD, 37 non-mutated PD, and 40 controls were recruited; α-synuclein levels in plasma, exosomes, and peripheral ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2021, :]

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Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study.

Marina Picillo, Monia Ginevrino, Giovanna Dati, Sara Scannapieco, Annamaria Vallelunga, Pietro Siano, Giampiero Volpe, Roberto Ceravolo, Valentina Nicoletti, Edoardo Cicero, Alessandra Nicoletti, Mario Zappia, Silvia Peverelli, Vincenzo Silani, Maria Teresa Pellecchia, Enza Maria Valente, Paolo Barone,

<h4>Objective</h4>To perform the genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome.<h4>Methods</h4>A Next Generation Sequencing - based targeted sequencing of 32 genes associated to various neurodegenerative phenotypes, plus a screening for SNCA Copy Number Variations and C9orf72 repeat expansion, was applied in a cohort of 85 Italian patients ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 84:82-90]

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini,

Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular defects, and vertebral malformations being the main features. <i>MYT1</i>, <i>AMIGO2</i>, and <i>ZYG11B</i> gene variants were reported in a few ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2021, 22(3):]

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Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.

Marina Picillo, Sara Scannapieco, Alessandro Iavarone, Monia Ginevrino, Enza Maria Valente, Paolo Barone,

<h4>Background</h4>Glucocerebrosidase (GBA) heterozygous variants are the most important genetic risk factor for the development of alpha-synucleinopathies (i.e., Parkinson's disease and Dementia with Lewy Bodies). Herein, we report for the first time on a patient with a clinical diagnosis of Posterior Cortical Atrophy, carrier of the common GBA heterozygous variant N370S ... Read more >>

BMC Neurol (BMC neurology)
[2021, 21(1):17]

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Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease.

Michaela Trilck-Winkler, Max Borsche, Inke R König, Alexander Balck, Insa Lenz, Meike Kasten, Katja Lohmann, Kathrin Brockmann, Enza Maria Valente, Christine Klein, Norbert Brüggemann, Philip Seibler,

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2021, 36(1):271-273]

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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, ,

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, :]

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Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

Cole Deisseroth, Aarushi Nayak, Nathan Bliss, Vanesa Lerma, Ashley LeMaire, Vinodh Narayanan, Christopher Balak, Ginevra Zanni, Enza Maria Valente, Enrico Bertini, Paul Benke, Michael Wangler, Hsiao-Tuan Chao,

Hypotonia, Ataxia, and Delayed Development syndrome is a neurodevelopmental disorder caused by heterozygous Early B-Cell Factor 3 ( EBF3 ) loss-of-function variants. Identified in 2016, the full spectrum of clinical findings and the relationship between the EBF3 genotype and clinical outcomes has not been determined beyond its namesake features. We ... Read more >>

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Mitochondria and Parkinson's disease: a complex (III) liaison.

Silvia Cerri, Enza Maria Valente,

Brain (Brain : a journal of neurology)
[2020, 143(11):3175-3178]

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Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.

Giulio Ruberto, Vincenzo Parisi, Chiara Bertone, Sabrina Signorini, Mauro Antonini, Enza Maria Valente, Federica Manzoni, Valentina Serpieri, Riccardo Fausto, Luciano Quaranta,

<h4>Introduction</h4>Joubert syndrome (JS) is a recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including optic nerve morphologic abnormalities. The function of the visual pathways, including the optic nerve, can be objectively evaluated by visual evoked potential (VEP) recordings. Our work aims ... Read more >>

Adv Ther (Advances in therapy)
[2021, 38(1):278-289]

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Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.

Eltahir Ali, Rosalba Monica Ferraro, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Valentina Serpieri, Enza Maria Valente, Lucio Giordano, Silvia Clara Giliani,

We have generated new disease-specific induced pluripotent stem cell (iPSC) lines from skin fibroblasts obtained from a female patient with Joubert syndrome (JS) caused by compound heterozygous mutations in C5orf42 gene. The generated iPSCs offer an unprecedented opportunity to obtain iPSC-derived neurons to investigate the pathogenesis of JS in vitro ... Read more >>

Stem Cell Res (Stem cell research)
[2020, 49:102007]

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Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Simone Gana, Massimo Plumari, Elena Rossi, Annalisa Saracino, Melanie Iorio, Martina Paola Zanaboni, Simona Orcesi, Enza Maria Valente,

Biallelic mutations in the LARP7 gene have been recently shown to cause Alazami syndrome, a rare condition characterized by short stature, intellectual disability, and peculiar facial dysmorphisms. To date, only 24 cases have been reported. Here, we describe two brothers initially suspected to have Smith-Lemli-Opitz syndrome, in whom clinical exome ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(11):2722-2726]

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GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

Simona Petrucci, Monia Ginevrino, Ilaria Trezzi, Edoardo Monfrini, Lucia Ricciardi, Alberto Albanese, Micol Avenali, Paolo Barone, Anna Rita Bentivoglio, Vincenzo Bonifati, Francesco Bove, Laura Bonanni, Livia Brusa, Cristina Cereda, Giovanni Cossu, Chiara Criscuolo, Giovanna Dati, Anna De Rosa, Roberto Eleopra, Giovanni Fabbrini, Laura Fadda, Manuela Garbellini, Brigida Minafra, Marco Onofrj, Claudio Pacchetti, Ilaria Palmieri, Maria Teresa Pellecchia, Martina Petracca, Marina Picillo, Antonio Pisani, Annamaria Vallelunga, Roberta Zangaglia, Alessio Di Fonzo, Francesca Morgante, Enza Maria Valente, ,

<h4>Background</h4>Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear.<h4>Objectives</h4>We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time.<h4>Methods</h4>Sanger sequencing ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(11):2106-2111]

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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

Francesco Nicita, Monia Ginevrino, Lorena Travaglini, Stefano D'Arrigo, Giovanna Zorzi, Renato Borgatti, Gaetano Terrone, Michela Catteruccia, Gessica Vasco, Vesna Brankovic, Sabrina Siliquini, Silvia Romano, Chiara Veredice, Marina Pedemonte, Michelina Armando, Donatella Lettori, Fabrizia Stregapede, Luca Bosco, Antonella Sferra, Valeria Tessarollo, Romina Romaniello, Giovanni Ristori, Enrico Bertini, Enza Maria Valente, Ginevra Zanni,

<h4>Background</h4>Dominant and recessive variants in the <i>KIF1A</i> gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and autonomic neuropathy type 2 and spastic paraplegia type 30, both recessively inherited, and mental retardation type 9 with dominant inheritance.<h4>Methods</h4>In ... Read more >>

J Med Genet (Journal of medical genetics)
[2020, :]

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KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.

Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, Edoardo Errichiello, Sebastiano Arceri, Micol Avenali, Enza Maria Valente, Enrico Alfonsi,

<h4>Introduction</h4>Myoclonus-dystonia is a rare syndrome typically occurring during childhood or adolescence, mainly due to SGCE pathogenic variants. Early-onset, atypical presentations of myoclonus-dystonia have recently been associated with KCTD17 variants. In these cases, laryngeal involvement was reported in the advanced stages.<h4>Methods</h4>We evaluated a 52-year-old man with myoclonus-dystonia and positive family history. ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 78:129-133]

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, ,

<h4>Purpose</h4>Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).<h4>Methods</h4>We analyzed a large series of 440 index cerebellar ataxia cases, mostly with dominant inheritance.<h4>Results</h4>STUB1 variants were detected in 50 patients. Age at onset and severity were remarkably ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(11):1851-1862]

Cited: 1 time

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Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Giulio Ruberto, Vincenzo Parisi, Chiara Bertone, Sabrina Signorini, Mauro Antonini, Enza Maria Valente, Federica Manzoni, Valentina Serpieri, Riccardo Fausto, Luciano Quaranta,

<h4>Introduction</h4>Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including congenital retinal dystrophy. The function of different retinal elements (rod, cone, bipolar cells) can be objectively evaluated by electroretinogram (ERG) recordings. Our work aims to evaluate ... Read more >>

Adv Ther (Advances in therapy)
[2020, 37(9):3827-3838]

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PINK1 and Parkin: The odd couple.

Edgar Djaha Yoboue, Enza Maria Valente,

In 2004, PINK1 was established as a gene linked to early onset of autosomal recessive juvenile Parkinsonism. Since then, tremendous efforts allowed involving the gene product in diverse events but with a strong focus on its partnership with the protein Parkin for the degradation of damaged mitochondria through mitophagy. Yet, ... Read more >>

Neurosci Res (Neuroscience research)
[2020, 159:25-33]

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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Sara Nuovo, Laura Fuiano, Alessia Micalizzi, Roberta Battini, Enrico Bertini, Renato Borgatti, Gianluca Caridi, Stefano D'Arrigo, Elisa Fazzi, Rita Fischetto, Gian Marco Ghiggeri, Lucio Giordano, Vincenzo Leuzzi, Romina Romaniello, Sabrina Signorini, Gilda Stringini, Ginevra Zanni, Marta Romani, Enza Maria Valente, Francesco Emma,

<h4>Background</h4>Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25-30% patients although only ∼18% had a confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting in delayed diagnosis. ... Read more >>

Nephrol Dial Transplant (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association)
[2020, 35(7):1195-1202]

Cited: 3 times

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Mechanisms of neurodegeneration in Parkinson's disease: keep neurons in the PINK1.

Francesco Brunelli, Enza Maria Valente, Giuseppe Arena,

Extensive studies on PINK1, whose mutations are a confirmed cause of Parkinson's disease (PD), have been conducted in animal models or immortalized cell lines. These include initial ground-breaking discoveries on mitophagy, which demonstrated that PINK1 recruits Parkin on depolarized mitochondria, initiating a signalling cascade eventually resulting in their autophagic degradation. ... Read more >>

Mech Ageing Dev (Mechanisms of ageing and development)
[2020, 189:111277]

Cited: 2 times

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Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

Sakshi Jain, Himani Bhasin, Marta Romani, Enza Maria Valente, Suvasini Sharma,

A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The ... Read more >>

J Pediatr Neurosci (Journal of pediatric neurosciences)
[2019, 14(2):90-93]

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Movement Disorders in Genetic Pediatric Ataxias.

Simone Gana, Enza Maria Valente,

<h4>Background</h4>Genetic pediatric ataxias are heterogeneous rare disorders, mainly inherited as autosomal-recessive traits. Most forms are progressive and lack effective treatment, with relevant socioeconomical impact. Albeit ataxia represents the main clinical feature, the phenotype can be more complex, with additional neurological and nonneurological signs being described in several forms.<h4>Methods and results</h4>In ... Read more >>

Mov Disord Clin Pract (Movement disorders clinical practice)
[2020, 7(4):383-393]

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