Works matching AU Tucci, Arianna

Results: 25

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

Published in:

2022

By:

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

Publication type:

Correction Notice

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

Published in:

Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241

By:

Tucci, Arianna;
Kara, Eleanna;
Schossig, Anna;
Wolf, Nicole I.;
Plagnol, Vincent;
Fawcett, Katherine;
Paisán‐Ruiz, Coro;
Moore, Matthew;
Hernandez, Dena;
Musumeci, Sebastiano;
Tennison, Michael;
Hennekam, Raoul;
Palmeri, Silvia;
Malandrini, Alessandro;
Raskin, Salmo;
Donnai, Dian;
Hennig, Corina;
Tzschach, Andreas;
Hordijk, Roel;
Bast, Thomas

Publication type:

Article

Neuronal intranuclear inclusion disease is genetically heterogeneous.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1716, doi. 10.1002/acn3.51151

By:

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

Publication type:

Article

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Published in:

Genes, 2025, v. 16, n. 2, p. 169, doi. 10.3390/genes16020169

By:

Rocca, Clarissa;
Murphy, David;
Clarkson, Chris;
Zanovello, Matteo;
Gagliardi, Delia;
Genomics, Queen Square;
Kaiyrzhanov, Rauan;
Alvi, Javeria;
Maroofian, Reza;
Efthymiou, Stephanie;
Sultan, Tipu;
Vandrovcova, Jana;
Polke, James;
Labrum, Robyn;
Houlden, Henry;
Tucci, Arianna

Publication type:

Article

Genetic variability at the PARK16 locus.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125

By:

Tucci, Arianna;
Nalls, Mike A.;
Houlden, Henry;
Revesz, Tamas;
Singleton, Andrew B.;
Wood, Nicholas W.;
Hardy, John;
Paisán-Ruiz, Coro

Publication type:

Article

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

Published in:

2016

By:

Tucci, Arianna;
Ciaccio, Claudia;
Scuvera, Giulietta;
Esposito, Susanna;
Milani, Donatella

Publication type:

Case Study

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

Published in:

Movement Disorders, 2012, v. 27, n. 3, p. 393, doi. 10.1002/mds.24045

By:

Setó-Salvia, Núria;
Pagonabarraga, Javier;
Houlden, Henry;
Pascual-Sedano, Berta;
Dols-Icardo, Oriol;
Tucci, Arianna;
Paisán-Ruiz, Coro;
Campolongo, Antonia;
Antón-Aguirre, Sofía;
Martín, Inés;
Muñoz, Laia;
Bufill, Enric;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Cozar, Mónica;
Blesa, Rafael;
Lleó, Alberto;
Hardy, John;
Kulisevsky, Jaime;
Clarimón, Jordi

Publication type:

Article

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

Published in:

Movement Disorders, 2010, v. 25, n. 10, p. 1506, doi. 10.1002/mds.23109

By:

Alonso-Canovas, Araceli;
Katschnig, Petra;
Tucci, Arianna;
Carecchio, Miryam;
Wood, Nicholas W.;
Edwards, Mark;
Martínez Castrillo, Juan Carlos;
Burke, Derek;
Heales, Simon;
Bhatia, Kailash P.

Publication type:

Article

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

Published in:

Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad244

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 638, doi. 10.1002/ajmg.a.38054

By:

Tucci, Arianna;
Pezzani, Lidia;
Scuvera, Giulietta;
Ronzoni, Luisa;
Scola, Elisa;
Esposito, Susanna;
Milani, Donatella

Publication type:

Article

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1257, doi. 10.1002/ajmg.a.37553

By:

Ronzoni, Luisa;
Tagliaferri, Francesco;
Tucci, Arianna;
Baccarin, Marco;
Esposito, Susanna;
Milani, Donatella

Publication type:

Article

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

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009

By:

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;
Consortium, Genomics England Research;
Wood, Nick;
Hardy, John A;
Smedley, Damian;
Houlden, Henry;
Botía, Juan

Publication type:

Article

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Published in:

2021

By:

Pagnamenta, Alistair T;
Kaiyrzhanov, Rauan;
Zou, Yaqun;
Da'as, Sahar I;
Maroofian, Reza;
Donkervoort, Sandra;
Dominik, Natalia;
Lauffer, Marlen;
Ferla, Matteo P;
Orioli, Andrea;
Giess, Adam;
Tucci, Arianna;
Beetz, Christian;
Sedghi, Maryam;
Ansari, Behnaz;
Barresi, Rita;
Basiri, Keivan;
Cortese, Andrea;
Elgar, Greg;
Fernandez-Garcia, Miguel A

Publication type:

journal article

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Published in:

2016

By:

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

Publication type:

journal article

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

Published in:

2021

By:

Mencacci, Niccolò E.;
Brockmann, Marisa M.;
Jinye Dai;
Pajusalu, Sander;
Atasu, Burcu;
Campos, Joaquin;
Pino, Gabriela;
Gonzalez-Latapi, Paulina;
Patzke, Christopher;
Schwake, Michael;
Tucci, Arianna;
Pittman, Alan;
Simon-Sanchez, Javier;
Carvill, Gemma L.;
Balint, Bettina;
Wiethoff, Sarah;
Warner, Thomas T.;
Papandreou, Apostolos;
Ker Shin Soo, Audrey;
Rein, Reet

Publication type:

journal article

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

Published in:

Cytogenetic & Genome Research, 2018, v. 156, n. 3, p. 127, doi. 10.1159/000494532

By:

Ciaccio, Claudia;
Scuvera, Giulietta;
Tucci, arianna;
Gentilin, Barbara;
Baccarin, Marco;
Marchisio, Paola;
avignone, Sabrina;
Milani, Donatella

Publication type:

Article

A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

Published in:

Movement Disorders, 2025, v. 40, n. 3, p. 561, doi. 10.1002/mds.30073

By:

Clarkson, Chris;
Chen, Zhongbo;
Rocca, Clarissa;
Jadhav, Bharati;
Ibañez, Kristina;
Ryten, Mina;
Sharp, Andrew J.;
Houlden, Henry;
Tucci, Arianna

Publication type:

Article

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

Published in:

Movement Disorders, 2025, v. 40, n. 2, p. 363, doi. 10.1002/mds.30077

By:

Chen, Zhongbo;
Alvarez Jerez, Pilar;
Anderson, Claire;
Paucar, Martin;
Lee, Jasmaine;
Nilsson, Daniel;
Macpherson, Hannah;
Scardamaglia, Annarita;
Montgomery, Kylie;
Hardy, John;
Singleton, Andrew B.;
Tucci, Arianna;
Mathews, Katherine D.;
Fu, Ying‐Hui;
Engvall, Martin;
Laffita‐Mesa, José;
Nennesmo, Inger;
Wedell, Anna;
Ptáček, Louis J.;
Blauwendraat, Cornelis

Publication type:

Article

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

Published in:

Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704

By:

Chen, Zhongbo;
Gustavsson, Emil K.;
Macpherson, Hannah;
Anderson, Claire;
Clarkson, Chris;
Rocca, Clarissa;
Self, Eleanor;
Alvarez Jerez, Pilar;
Scardamaglia, Annarita;
Pellerin, David;
Montgomery, Kylie;
Lee, Jasmaine;
Gagliardi, Delia;
Luo, Huihui;
Hardy, John;
Polke, James;
Singleton, Andrew B.;
Blauwendraat, Cornelis;
Mathews, Katherine D.;
Tucci, Arianna

Publication type:

Article

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

Published in:

Prostate, 2009, v. 69, n. 5, p. 538, doi. 10.1002/pros.20900

By:

Minelli, Alba;
Bellezza, Ilaria;
Tucci, Arianna;
Rambotti, Maria Grazia;
Conte, Carmela;
Culig, Zoran

Publication type:

Article

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

Published in:

Prostate, 2008, v. 68, n. 4, p. 360, doi. 10.1002/pros.20703

By:

Minelli, Alba;
Bellezza, Ilaria;
Tucci, Arianna;
Conte, Carmela;
Bracarda, Sergio;
Culig, Zoran

Publication type:

Article

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

Published in:

Bioinformatics, 2019, v. 35, n. 22, p. 4754, doi. 10.1093/bioinformatics/btz431

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2017, v. 136, n. 10, p. 1329, doi. 10.1007/s00439-017-1832-5

By:

Ferrari, Luca;
Scuvera, Giulietta;
Tucci, Arianna;
Bianchessi, Donatella;
Rusconi, Francesco;
Menni, Francesca;
Battaglioli, Elena;
Milani, Donatella;
Riva, Paola

Publication type:

Article

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

Published in:

2016

By:

Tucci, Arianna;
Ronzoni, Luisa;
Arduino, Carlo;
Salmin, Paola;
Esposito, Susanna;
Milani, Donatella

Publication type:

Case Study