Works matching AU Gambardella, Stefano

Results: 61

Isolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17.

Published in:

Cerebellum, 2025, v. 24, n. 4, p. 1, doi. 10.1007/s12311-025-01868-1

By:

Paparella, Giulia;
De Riggi, Martina;
Aloisio, Simone;
Martini, Adriana;
Angelini, Luca;
Birreci, Daniele;
Costa, Davide;
Cannavacciuolo, Antonio;
Griguoli, Anna Maria;
Gambardella, Stefano;
Bologna, Matteo

Publication type:

Article

Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress.

Published in:

Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/4982453

By:

Limanaqi, Fiona;
Gambardella, Stefano;
Biagioni, Francesca;
Busceti, Carla L.;
Fornai, Francesco

Publication type:

Article

Hyperproliferation in Nasal Polyposis Tissues Is Not Associated with Somatic Genomic Instability.

Published in:

Journal of Otolaryngology -- Head & Neck Surgery, 2008, v. 37, n. 4, p. 510, doi. 10.2310/7070.2008.0097

By:

Corradini, Carlo;
Gullotta, Francesca;
Ciacci, Silvia;
Palmieri, Giampiero;
Salehi, Leila Baghernajad;
De Corso, Eugenio;
Novelli, Giuseppe;
Gambardella, Stefano

Publication type:

Article

TREM Receptors Connecting Bowel Inflammation to Neurodegenerative Disorders.

Published in:

Cells (2073-4409), 2019, v. 8, n. 10, p. 1124, doi. 10.3390/cells8101124

By:

Natale, Gianfranco;
Biagioni, Francesca;
Busceti, Carla Letizia;
Gambardella, Stefano;
Limanaqi, Fiona;
Fornai, Francesco

Publication type:

Article

Autophagy improves the mitochondrial status by regulating prion protein expression in glioblastoma cells.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 19

By:

Ferrucci, Michela;
Lazzeri, Gloria;
Biagioni, Francesca;
Ferese, Rosangela;
Gambardella, Stefano;
Lenzi, Paola;
Fornai, Francesco

Publication type:

Article

Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 155, doi. 10.1111/cge.14142

By:

Ferese, Rosangela;
Scala, Simona;
Suppa, Antonio;
Campopiano, Rosa;
Asci, Francesco;
Chiaravalloti, Maria Antonietta;
Zampogna, Alessandro;
D'Alessio, Carmelo;
Fittipaldi, Filomena;
Buttari, Fabio;
Di Pardo, Alba;
Giardina, Emiliano;
Zampatti, Stefania;
Fornai, Francesco;
Novelli, Giuseppe;
Fanelli, Mirco;
Zecca, Chiara;
Logroscino, Giancarlo;
Centonze, Diego;
Gambardella, Stefano

Publication type:

Article

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Published in:

Clinical Genetics, 2021, v. 99, n. 6, p. 829, doi. 10.1111/cge.13944

By:

Fusco, Carmela;
Nardella, Grazia;
Petracca, Antonio;
Ronchi, Dario;
Paciello, Nicola;
Di Giacomo, Marilena;
Gambardella, Stefano;
Lanfranconi, Silvia;
Zampatti, Stefania;
D'Agruma, Leonardo;
Micale, Lucia;
Castori, Marco

Publication type:

Article

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.

Published in:

Neurodegenerative Diseases, 2019, v. 19, n. 2, p. 96, doi. 10.1159/000502906

By:

Mastromoro, Gioia;
Gambardella, Stefano;
Marchionni, Enrica;
Campopiano, Rosa;
Traversa, Alice;
Di Bonaventura, Carlo;
Pizzuti, Antonio

Publication type:

Article

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.

Published in:

2020

By:

Campopiano, Rosa;
Ferese, Rosangela;
Zampatti, Stefania;
Giardina, Emiliano;
Biagioni, Francesca;
Colonnese, Claudio;
Centonze, Diego;
Storto, Marianna;
Buttari, Fabio;
Fraviga, Edoardo;
Broccoli, Vania;
Fanelli, Mirco;
Fornai, Francesco;
Gambardella, Stefano

Publication type:

journal article

Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 474, doi. 10.3390/jpm11060474

By:

Zampatti, Stefania;
Ragazzo, Michele;
Peconi, Cristina;
Luciano, Serena;
Gambardella, Stefano;
Caputo, Valerio;
Strafella, Claudia;
Cascella, Raffaella;
Caltagirone, Carlo;
Giardina, Emiliano

Publication type:

Article

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.

Published in:

Genomics Insights, 2010, n. 3, p. 9

By:

Gambardella, Stefano;
Ciabattoni, Erika;
Motta, Francesca;
Stoico, Giusy;
Gullotta, Francesca;
Biancolella, Michela;
Nardone, Anna Maria;
Novelli, Antonio;
Brunetti, Ercole;
Bernardini, Laura;
Novelli, Giuseppe

Publication type:

Article

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.

Published in:

Genes, 2023, v. 14, n. 8, p. 1659, doi. 10.3390/genes14081659

By:

Zampatti, Stefania;
Peconi, Cristina;
Calvino, Giulia;
Ferese, Rosangela;
Gambardella, Stefano;
Cascella, Raffaella;
Sebastiani, Jacopo;
Falsini, Benedetto;
Cusumano, Andrea;
Giardina, Emiliano

Publication type:

Article

Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis.

Published in:

Genes, 2022, v. 13, n. 5, p. 897, doi. 10.3390/genes13050897

By:

Bruno, Antonio;
Dolcetti, Ettore;
Azzolini, Federica;
Moscatelli, Alessandro;
Gambardella, Stefano;
Ferese, Rosangela;
Rizzo, Francesca Romana;
Gilio, Luana;
Iezzi, Ennio;
Galifi, Giovanni;
Borrelli, Angela;
Buttari, Fabio;
Furlan, Roberto;
Finardi, Annamaria;
De Vito, Francesca;
Musella, Alessandra;
Guadalupi, Livia;
Mandolesi, Georgia;
Centonze, Diego;
Stampanoni Bassi, Mario

Publication type:

Article

The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis.

Published in:

Genes, 2022, v. 13, n. 2, p. 332, doi. 10.3390/genes13020332

By:

Dolcetti, Ettore;
Bruno, Antonio;
Azzolini, Federica;
Gilio, Luana;
Moscatelli, Alessandro;
De Vito, Francesca;
Pavone, Luigi;
Iezzi, Ennio;
Gambardella, Stefano;
Giardina, Emiliano;
Ferese, Rosangela;
Buttari, Fabio;
Rizzo, Francesca Romana;
Furlan, Roberto;
Finardi, Annamaria;
Musella, Alessandra;
Mandolesi, Georgia;
Guadalupi, Livia;
Centonze, Diego;
Stampanoni Bassi, Mario

Publication type:

Article

A Large Family with p.Arg554His Mutation in ABCD1 : Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Published in:

Genes, 2021, v. 12, n. 5, p. 775, doi. 10.3390/genes12050775

By:

Campopiano, Rosa;
Femiano, Cinzia;
Chiaravalloti, Maria Antonietta;
Ferese, Rosangela;
Centonze, Diego;
Buttari, Fabio;
Zampatti, Stefania;
Fanelli, Mirco;
Amatori, Stefano;
D'Alessio, Carmelo;
Giardina, Emiliano;
Fornai, Francesco;
Biagioni, Francesca;
Storto, Marianna;
Gambardella, Stefano;
Via, Marc

Publication type:

Article

A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment.

Published in:

Genes, 2020, v. 11, n. 10, p. 1152, doi. 10.3390/genes11101152

By:

Stampanoni Bassi, Mario;
Buttari, Fabio;
Simonelli, Ilaria;
Gilio, Luana;
Furlan, Roberto;
Finardi, Annamaria;
Marfia, Girolama Alessandra;
Visconti, Andrea;
Paolillo, Andrea;
Storto, Marianna;
Gambardella, Stefano;
Ferese, Rosangela;
Salvetti, Marco;
Uccelli, Antonio;
Matarese, Giuseppe;
Centonze, Diego;
De Vito, Francesca

Publication type:

Article

Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications.

Published in:

Genes, 2020, v. 11, n. 7, p. 741, doi. 10.3390/genes11070741

By:

Strafella, Claudia;
Caputo, Valerio;
Termine, Andrea;
Barati, Shila;
Gambardella, Stefano;
Borgiani, Paola;
Caltagirone, Carlo;
Novelli, Giuseppe;
Giardina, Emiliano;
Cascella, Raffaella

Publication type:

Article

An IL-5 Single-Nucleotide Polymorphism Influences Neuroinflammation and Prospective Disease Activity in Multiple Sclerosis.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 9108, doi. 10.3390/ijms25169108

By:

Dolcetti, Ettore;
Buttari, Fabio;
Bruno, Antonio;
Azzolini, Federica;
Gilio, Luana;
Borrelli, Angela;
Di Caprio, Veronica;
Lauritano, Gianluca;
Galifi, Giovanni;
Gambardella, Stefano;
Ferese, Rosangela;
Giardina, Emiliano;
Rovella, Valentina;
Furlan, Roberto;
Finardi, Annamaria;
Musella, Alessandra;
Balletta, Sara;
Mandolesi, Georgia;
Centonze, Diego;
Stampanoni Bassi, Mario

Publication type:

Article

Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5253, doi. 10.3390/ijms25105253

By:

Dolcetti, Ettore;
Musella, Alessandra;
Balletta, Sara;
Gilio, Luana;
Bruno, Antonio;
Stampanoni Bassi, Mario;
Lauritano, Gianluca;
Buttari, Fabio;
Fresegna, Diego;
Tartacca, Alice;
Mariani, Fabrizio;
Palmerio, Federica;
Rovella, Valentina;
Ferese, Rosangela;
Gambardella, Stefano;
Giardina, Emiliano;
Finardi, Annamaria;
Furlan, Roberto;
Mandolesi, Georgia;
Centonze, Diego

Publication type:

Article

Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5379, doi. 10.3390/ijms22105379

By:

Lenzi, Paola;
Ferese, Rosangela;
Biagioni, Francesca;
Fulceri, Federica;
Busceti, Carla L.;
Falleni, Alessandra;
Gambardella, Stefano;
Frati, Alessandro;
Fornai, Francesco;
Morita, Masahiro

Publication type:

Article

Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4570, doi. 10.3390/ijms21134570

By:

Ferese, Rosangela;
Lenzi, Paola;
Fulceri, Federica;
Biagioni, Francesca;
Fabrizi, Cinzia;
Gambardella, Stefano;
Familiari, Pietro;
Frati, Alessandro;
Limanaqi, Fiona;
Fornai, Francesco

Publication type:

Article

Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers.

Published in:

2020

By:

Arcella, Antonietta;
Limanaqi, Fiona;
Ferese, Rosangela;
Biagioni, Francesca;
Oliva, Maria Antonietta;
Storto, Marianna;
Fanelli, Mirco;
Gambardella, Stefano;
Fornai, Francesco

Publication type:

Literature Review

Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 12, p. 2901, doi. 10.3390/ijms20122901

By:

Busceti, Carla L.;
Ferese, Rosangela;
Bucci, Domenico;
Ryskalin, Larisa;
Gambardella, Stefano;
Madonna, Michele;
Nicoletti, Ferdinando;
Fornai, Francesco

Publication type:

Article

Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 9, p. 2756, doi. 10.3390/ijms19092756

By:

Ferrucci, Michela;
Biagioni, Francesca;
Ryskalin, Larisa;
Limanaqi, Fiona;
Gambardella, Stefano;
Frati, Alessandro;
Fornai, Francesco

Publication type:

Article

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.682050

By:

Ferese, Rosangela;
Campopiano, Rosa;
Scala, Simona;
D’Alessio, Carmelo;
Storto, Marianna;
Buttari, Fabio;
Centonze, Diego;
Logroscino, Giancarlo;
Zecca, Chiara;
Zampatti, Stefania;
Fornai, Francesco;
Cianci, Vittoria;
Manfroi, Elisabetta;
GiardinaGenomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy., Emiliano;
Magnani, Mauro;
Suppa, Antonio;
Novelli, Giuseppe;
Gambardella, Stefano

Publication type:

Article

Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions.

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.651971

By:

Strafella, Claudia;
Caputo, Valerio;
Termine, Andrea;
Assogna, Francesca;
Pellicano, Clelia;
Pontieri, Francesco E.;
Macchiusi, Lucia;
Minozzi, Giulietta;
Gambardella, Stefano;
Centonze, Diego;
Bossù, Paola;
Spalletta, Gianfranco;
Caltagirone, Carlo;
Giardina, Emiliano;
Cascella, Raffaella

Publication type:

Article

Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease”.

Published in:

Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/5956437

By:

Gambardella, Stefano;
Ferese, Rosangela;
Scala, Simona;
Carboni, Stefania;
Biagioni, Francesca;
Giardina, Emiliano;
Zampatti, Stefania;
Modugno, Nicola;
Fabbiano, Francesco;
Fornai, Francesco;
Centonze, Diego;
Ruggieri, Stefano

Publication type:

Article

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease.

Published in:

Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/5651435

By:

Gambardella, Stefano;
Ferese, Rosangela;
Scala, Simona;
Carboni, Stefania;
Biagioni, Francesca;
Emiliano, Giardina;
Zampatti, Stefania;
Modugno, Nicola;
Fabbiano, Francesco;
Fornai, Francesco;
Centonze, Diego;
Ruggieri, Stefano

Publication type:

Article

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 57, doi. 10.1007/s10048-019-00575-4

By:

Zampatti, Stefania;
Colantoni, Luca;
Strafella, Claudia;
Galota, Rosaria Maria;
Caputo, Valerio;
Campoli, Giulia;
Pagliaroli, Giulia;
Carboni, Stefania;
Mela, Julia;
Peconi, Cristina;
Gambardella, Stefano;
Cascella, Raffaella;
Giardina, Emiliano

Publication type:

Article

Genetic regulation of IL-8 influences disease presentation of multiple sclerosis.

Published in:

Multiple Sclerosis Journal, 2023, v. 29, n. 4/5, p. 512, doi. 10.1177/13524585231155049

By:

Dolcetti, Ettore;
Bruno, Antonio;
Azzolini, Federica;
Gilio, Luana;
Pavone, Luigi;
Iezzi, Ennio;
Galifi, Giovanni;
Gambardella, Stefano;
Ferese, Rosangela;
Buttari, Fabio;
De Vito, Francesca;
Colantuono, Paola;
Furlan, Roberto;
Finardi, Annamaria;
Musella, Alessandra;
Mandolesi, Georgia;
Centonze, Diego;
Stampanoni Bassi, Mario

Publication type:

Article

Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas.

Published in:

Frontiers in Neuroanatomy, 2017, p. 1, doi. 10.3389/fnana.2017.00049

By:

Frenzilli, Giada;
Ryskalin, Larisa;
Ferrucci, Michela;
Cantafora, Emanuela;
Chelazzi, Silvia;
Giorgi, Filippo S.;
Lenzi, Paola;
Scarcelli, Vittoria;
Frati, Alessandro;
Biagioni, Francesca;
Gambardella, Stefano;
Falleni, Alessandra;
Fornai, Francesco

Publication type:

Article

The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions.

Published in:

Frontiers in Neuroanatomy, 2016, p. 1, doi. 10.3389/fnana.2016.00078

By:

Lenzi, Paola;
Lazzeri, Gloria;
Biagioni, Francesca;
Busceti, Carla L.;
Gambardella, Stefano;
Salvetti, Alessandra;
Fornai, Francesco;
Armengol, José A.;
Ferrucci, Michela

Publication type:

Article

Interdependency Between Autophagy and Synaptic Vesicle Trafficking: Implications for Dopamine Release.

Published in:

Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00299

By:

Limanaqi, Fiona;
Biagioni, Francesca;
Gambardella, Stefano;
Ryskalin, Larisa;
Fornai, Francesco

Publication type:

Article

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Published in:

Frontiers in Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnins.2016.00532

By:

Gambardella, Stefano;
Biagioni, Francesca;
Ferese, Rosangela;
Busceti, Carla L.;
Frati, Alessandro;
Novelli, Giuseppe;
Ruggieri, Stefano;
Fornai, Francesco

Publication type:

Article

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 12, p. 981, doi. 10.1002/pd.1058

By:

D'Apice, Maria Rosaria;
Gambardella, Stefano;
Russo, Silvia;
Lucidi, Vincenzina;
Nardone, Anna Maria;
Pietropolli, Adalgisa;
Novelli, Giuseppe

Publication type:

Article

C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.

Published in:

Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.907122

By:

Zampatti, Stefania;
Peconi, Cristina;
Campopiano, Rosa;
Gambardella, Stefano;
Caltagirone, Carlo;
Giardina, Emiliano

Publication type:

Article

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings.

Published in:

Parkinson's Disease (20420080), 2015, p. 1, doi. 10.1155/2015/546462

By:

Ferese, Rosangela;
Modugno, Nicola;
Campopiano, Rosa;
Santilli, Marco;
Zampatti, Stefania;
Giardina, Emiliano;
Nardone, Annamaria;
Postorivo, Diana;
Fornai, Francesco;
Novelli, Giuseppe;
Romoli, Edoardo;
Ruggieri, Stefano;
Gambardella, Stefano

Publication type:

Article

The dark side of histones: genomic organization and role of oncohistones in cancer.

Published in:

Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01057-x

By:

Amatori, Stefano;
Tavolaro, Simona;
Gambardella, Stefano;
Fanelli, Mirco

Publication type:

Article

mTOR-Dependent Cell Proliferation in the Brain.

Published in:

BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/7082696

By:

Ryskalin, Larisa;
Lazzeri, Gloria;
Flaibani, Marina;
Biagioni, Francesca;
Gambardella, Stefano;
Frati, Alessandro;
Fornai, Francesco

Publication type:

Article

Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc‐HMPAO Brain SPECT Study.

Published in:

Headache: The Journal of Head & Face Pain, 2019, v. 59, n. 2, p. 253, doi. 10.1111/head.13472

By:

Mancini, Valentina;
Mastria, Giulio;
Frantellizzi, Viviana;
Troiani, Patrizia;
Zampatti, Stefania;
Carboni, Stefania;
Giardina, Emiliano;
Campopiano, Rosa;
Gambardella, Stefano;
Turchi, Federica;
Petolicchio, Barbara;
Toscano, Massimiliano;
Liberatore, Mauro;
Viganò, Alessandro;
Di Piero, Vittorio

Publication type:

Article

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 8, doi. 10.1186/1471-2350-5-8

By:

D'Apice, Maria Rosaria;
Gambardella, Stefano;
Bengala, Mario;
Russo, Silvia;
Nardone, Anna Maria;
Lucidi, Vincenzina;
Sangiuolo, Federica;
Novelli, Giuseppe

Publication type:

Article

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

Published in:

2010

By:

Corleto, Vito D;
Gambardella, Stefano;
Gullotta, Francesca;
D'Apice, Maria R;
Piciucchi, Matteo;
Galli, Elena;
Lucidi, Vincenzina;
Novelli, Giuseppe;
Delle Fave, Gianfranco

Publication type:

journal article

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis?

Published in:

BMC Gastroenterology, 2010, v. 10, p. 119, doi. 10.1186/1471-230X-10-119

By:

Corleto, Vito D.;
Gambardella, Stefano;
Gullotta, Francesca;
D'Apice, Maria R.;
Piciucchi, Matteo;
Galli, Elena;
Lucidi, Vincenzina;
Novelli, Giuseppe;
Fave, Gianfranco Delle

Publication type:

Article

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

Published in:

Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 376, doi. 10.1007/s12031-016-0754-3

By:

Ferese, Rosangela;
Zampatti, Stefania;
Griguoli, Anna;
Fornai, Francesco;
Giardina, Emiliano;
Barrano, Giuseppe;
Albano, Veronica;
Campopiano, Rosa;
Scala, Simona;
Novelli, Giuseppe;
Gambardella, Stefano

Publication type:

Article

A fluorescence-based sequence-specific primer PCR for the screening of HLA-B<sup>*</sup>57:01.

Published in:

Electrophoresis, 2010, v. 31, n. 21, p. 3525, doi. 10.1002/elps.201000283

By:

Giardina, Emiliano;
Stocchi, Laura;
Cuzzola, Valeria Foti;
Zampatti, Stefania;
Gambardella, Stefano;
Patrizi, Maria Patrizia;
Bramanti, Placido;
Pirazzoli, Antonella;
Novelli, Giuseppe

Publication type:

Article

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.

Published in:

Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00206

By:

De Cinque, Marianna;
Palumbo, Orazio;
Mazzucco, Ermelinda;
Simone, Antonella;
Palumbo, Pietro;
Ciavatta, Renata;
Maria, Giuliana;
Ferese, Rosangela;
Gambardella, Stefano;
Angiolillo, Antonella;
Carella, Massimo;
Garofalo, Silvio

Publication type:

Article

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.

Published in:

Frontiers in Neurology, 2020, v. 10, p. 1, doi. 10.3389/fneur.2019.01331

By:

Campopiano, Rosa;
Ferese, Rosangela;
Buttari, Fabio;
Femiano, Cinzia;
Centonze, Diego;
Fornai, Francesco;
Biagioni, Francesca;
Chiaravalloti, Maria Antonietta;
Magnani, Mauro;
Giardina, Emiliano;
Ruzzo, Anna;
Gambardella, Stefano

Publication type:

Article

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Published in:

Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00455-2

By:

Gialluisi, Alessandro;
Reccia, Mafalda Giovanna;
Modugno, Nicola;
Nutile, Teresa;
Lombardi, Alessia;
Di Giovannantonio, Luca Giovanni;
Pietracupa, Sara;
Ruggiero, Daniela;
Scala, Simona;
Gambardella, Stefano;
International Parkinson's Disease Genomics Consortium (IPDGC);
Noyce, Alastair J.;
Kaiyrzhanov, Rauan;
Middlehurst, Ben;
Kia, Demis A.;
Tan, Manuela;
Houlden, Henry;
Morris, Huw R.;
Plun-Favreau, Helene;
Holmans, Peter

Publication type:

Article

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

Published in:

2010

By:

Gambardella S;
Rinaldi F;
Lepore SM;
Viola A;
Loro E;
Angelini C;
Vergani L;
Novelli G;
Botta A;
Gambardella, Stefano;
Rinaldi, Fabrizio;
Lepore, Saverio M;
Viola, Antonella;
Loro, Emanuele;
Angelini, Corrado;
Vergani, Lodovica;
Novelli, Giuseppe;
Botta, Annalisa

Publication type:

journal article

Overexpression to microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

Published in:

Journal of Translational Medicine, 2010, v. 8, p. 48, doi. 10.1186/1479-5876-8-48

By:

Gambardella, Stefano;
Rinaldi, Fabrizio;
Lepore, Saverio M.;
Viola, Antonella;
Loro, Emanuele;
Angelini, Corrado;
Vergani, Lodovica;
Novelli, Giuseppe;
Botta, Annalisa

Publication type:

Article