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

por Tucci, Arianna, Ciaccio, Claudia, Scuvera, Giulietta, Esposito, Susanna, Milani, Donatella
Publicado 2016

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

por Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Publicado 2016

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

por Tucci, Arianna, Charlesworth, Gavin, Sheerin, Una-Marie, Plagnol, Vincent, Wood, Nicholas W., Hardy, John
Publicado 2012

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

por Chelban, Viorica, Tucci, Arianna, Lynch, David S, Polke, James M, Santos, Liana, Jonvik, Hallgeir, Groppa, Stanislav, Wood, Nicholas W, Houlden, Henry
Publicado 2017

Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population

por Lam, Tanya, Rocca, Clarissa, Ibanez, Kristina, Dalmia, Anupriya, Tallman, Samuel, Hadjivassiliou, Marios, Hensiek, Anke, Nemeth, Andrea, Facchini, Stefano, Wood, Nicholas, Cortese, Andrea, Houlden, Henry, Tucci, Arianna
Publicado 2023

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

por Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna
Publicado 2020

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

por Rinaldi, Berardo, Ge, Yu-Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia-Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
Publicado 2021

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

por Rinaldi, Berardo, Ge, Yu‑Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia‑Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
Publicado 2021

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

por Tucci, Arianna, Liu, Yo-Tsen, Preza, Elisabeth, Pitceathly, Robert D S, Chalasani, Annapurna, Plagnol, Vincent, Land, John M, Trabzuni, Daniah, Ryten, Mina, Jaunmuktane, Zane, Reilly, Mary M, Brandner, Sebastian, Hargreaves, Iain, Hardy, John, Singleton, Andrew B, Abramov, Andrey Y, Houlden, Henry
Publicado 2014

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

por Schottlaender, Lucia V., Polke, James M., Ling, Helen, MacDoanld, Nicola D., Tucci, Arianna, Nanji, Tina, Pittman, Alan, de Silva, Rohan, Holton, Janice L., Revesz, Tamas, Sweeney, Mary G., Singleton, Andy B., Lees, Andrew J., Bhatia, Kailash P., Houlden, Henry
Publicado 2015

Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 122...

por Schottlaender, Lucia V., Polke, James M., Ling, Helen, MacDoanld, Nicola D., Tucci, Arianna, Nanji, Tina, Pittman, Alan, de Silva, Rohan, Holton, Janice L., Revesz, Tamas, Sweeney, Mary G., Singleton, Andy B., Lees, Andrew J., Bhatia, Kailash P., Houlden, Henry
Publicado 2015

POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS

por Ibañez, Kristina, Jadhav, Bharati, Facchini, Stefano, Garg, Paras, Zanovello, Matteo, Martin-Trujillo, Alejandro, Gies, Scott J, Deforie, Valentina Galassi, Gagliardi, Delia, Hensman, Davina, Moutsianas, Loukas, Shoai, Maryam, Caulfield, Mark J, Cortese, Andrea, Escott-Price, Valentina, Hardy, John, Houlden, Henry, Sharp, Andrew J, Tucci, Arianna
Publicado 2023

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

por Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina
Publicado 2023

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

por Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna
Publicado 2022

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

por Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna
Publicado 2023

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

por Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Publicado 2019

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

por Kara, Eleanna, Tucci, Arianna, Manzoni, Claudia, Lynch, David S., Elpidorou, Marilena, Bettencourt, Conceicao, Chelban, Viorica, Manole, Andreea, Hamed, Sherifa A., Haridy, Nourelhoda A., Federoff, Monica, Preza, Elisavet, Hughes, Deborah, Pittman, Alan, Jaunmuktane, Zane, Brandner, Sebastian, Xiromerisiou, Georgia, Wiethoff, Sarah, Schottlaender, Lucia, Proukakis, Christos, Morris, Huw, Warner, Tom, Bhatia, Kailash P., Korlipara, L.V. Prasad, Singleton, Andrew B., Hardy, John, Wood, Nicholas W., Lewis, Patrick A., Houlden, Henry
Publicado 2016

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

por Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Publicado 2022

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

por Ronco, Riccardo, Perini, Cecilia, Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Gennari, Alice, Simone, Roberto, Stuart, Skye, Nagy, Sara, Vegezzi, Elisa, Quartesan, Ilaria, El-Saddig, Amar, Lavin, Timothy, Tucci, Arianna, Szymura, Agnieszka, Novis De Farias, Luiz Eduardo, Gary, Alexander, Delfeld, Megan, Kandikatla, Priscilla, Niu, Nifang, Tawde, Sanjukta, Shaw, Joseph, Polke, James, Reilly, Mary M., Wood, Nick W., Crespan, Emmanuele, Gomez, Christopher, Chen, Jin Yun Helen, Schmahmann, Jeremy Dan, Gosal, David, Houlden, Henry, Das, Soma, Cortese, Andrea
Publicado 2023

Neuronal intranuclear inclusion disease is genetically heterogeneous

por Chen, Zhongbo, Yan Yau, Wai, Jaunmuktane, Zane, Tucci, Arianna, Sivakumar, Prasanth, Gagliano Taliun, Sarah A., Turner, Chris, Efthymiou, Stephanie, Ibáñez, Kristina, Sullivan, Roisin, Bibi, Farah, Athanasiou‐Fragkouli, Alkyoni, Bourinaris, Thomas, Zhang, David, Revesz, Tamas, Lashley, Tammaryn, DeTure, Michael, Dickson, Dennis W., Josephs, Keith A., Gelpi, Ellen, Kovacs, Gabor G., Halliday, Glenda, Rowe, Dominic B., Blair, Ian, Tienari, Pentti J., Suomalainen, Anu, Fox, Nick C., Wood, Nicholas W., Lees, Andrew J., Haltia, Matti J., Hardy, John, Ryten, Mina, Vandrovcova, Jana, Houlden, Henry
Publicado 2020