Works matching AU Ryten, Mina

Results: 83
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    Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.

    Published in:
    Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007
    By:
    • Martinelli, Simone;
    • Pannone, Luca;
    • Lissewski, Christina;
    • Brinkmann, Julia;
    • Flex, Elisabetta;
    • Schanze, Denny;
    • Calligari, Paolo;
    • Anselmi, Massimiliano;
    • Pantaleoni, Francesca;
    • Canale, Viviana Claudia;
    • Radio, Francesca Clementina;
    • Ioannides, Adonis;
    • Rahner, Nils;
    • Schanze, Ina;
    • Josifova, Dragana;
    • Bocchinfuso, Gianfranco;
    • Ryten, Mina;
    • Stella, Lorenzo;
    • Tartaglia, Marco;
    • Zenker, Martin
    Publication type:
    Article
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    A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368
    By:
    • Salpietro, Vincenzo;
    • Efthymiou, Stephanie;
    • Manole, Andreea;
    • Maurya, Bhawana;
    • Wiethoff, Sarah;
    • Ashokkumar, Balasubramaniem;
    • Cutrupi, Maria Concetta;
    • Dipasquale, Valeria;
    • Manti, Sara;
    • Botia, Juan A.;
    • Ryten, Mina;
    • Vandrovcova, Jana;
    • Bello, Oscar D.;
    • Bettencourt, Conceicao;
    • Mankad, Kshitij;
    • Mukherjee, Ashim;
    • Mutsuddi, Mousumi;
    • Houlden, Henry
    Publication type:
    Article
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    Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

    Published in:
    Nature Genetics, 2014, v. 46, n. 1, p. 70, doi. 10.1038/ng.2829
    By:
    • Sousa, Sérgio B;
    • Jenkins, Dagan;
    • Chanudet, Estelle;
    • Tasseva, Guergana;
    • Ishida, Miho;
    • Anderson, Glenn;
    • Docker, James;
    • Ryten, Mina;
    • Sa, Joaquim;
    • Saraiva, Jorge M;
    • Barnicoat, Angela;
    • Scott, Richard;
    • Calder, Alistair;
    • Wattanasirichaigoon, Duangrurdee;
    • Chrzanowska, Krystyna;
    • Simandlová, Martina;
    • Van Maldergem, Lionel;
    • Stanier, Philip;
    • Beales, Philip L;
    • Vance, Jean E
    Publication type:
    Article
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    PhenoExam: gene set analyses through integration of different phenotype databases.

    Published in:
    BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-05122-x
    By:
    • Cisterna, Alejandro;
    • González-Vidal, Aurora;
    • Ruiz, Daniel;
    • Ortiz, Jordi;
    • Gómez-Pascual, Alicia;
    • Chen, Zhongbo;
    • Nalls, Mike;
    • Faghri, Faraz;
    • Hardy, John;
    • Díez, Irene;
    • Maietta, Paolo;
    • Álvarez, Sara;
    • Ryten, Mina;
    • Botía, Juan A.
    Publication type:
    Article
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    Recursive splicing in long vertebrate genes.

    Published in:
    Nature, 2015, v. 521, n. 7552, p. 371, doi. 10.1038/nature14466
    By:
    • Sibley, Christopher R.;
    • Emmett, Warren;
    • Blazquez, Lorea;
    • Faro, Ana;
    • Haberman, Nejc;
    • Briese, Michael;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Weale, Michael E.;
    • Hardy, John;
    • Modic, Miha;
    • Curk, Tomaž;
    • Wilson, Stephen W.;
    • Plagnol, Vincent;
    • Ule, Jernej
    Publication type:
    Article
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    Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Grenn, Francis P.;
    • Malik, Laksh;
    • Miano-Burkhardt, Abigail;
    • Makarious, Mary B.;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Moore, Anni;
    • Reed, Xylena;
    • Nalls, Mike A.;
    • Shah, Syed;
    • Mahmoud, Medhat;
    • Sedlazeck, Fritz J.;
    • Dolzhenko, Egor;
    • Park, Morgan;
    • Iwaki, Hirotaka;
    • Casey, Bradford;
    • Ryten, Mina;
    • Blauwendraat, Cornelis
    Publication type:
    Article
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    Age‐related telomere attrition in the human putamen.

    Published in:
    Aging Cell, 2023, v. 22, n. 7, p. 1, doi. 10.1111/acel.13861
    By:
    • Schreglmann, Sebastian R.;
    • Goncalves, Tomas;
    • Grant‐Peters, Melissa;
    • Kia, Demis A.;
    • Soreq, Lilach;
    • Ryten, Mina;
    • Wood, Nicholas W.;
    • Bhatia, Kailash P.;
    • Tomita, Kazunori
    Publication type:
    Article
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    A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies.

    Published in:
    Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12758
    By:
    • Altmann, Andre;
    • Ryten, Mina;
    • Di Nunzio, Martina;
    • Ravizza, Teresa;
    • Tolomeo, Daniele;
    • Reynolds, Regina H.;
    • Somani, Alyma;
    • Bacigaluppi, Marco;
    • Iori, Valentina;
    • Micotti, Edoardo;
    • Di Sapia, Rossella;
    • Cerovic, Milica;
    • Palma, Eleonora;
    • Ruffolo, Gabriele;
    • Botía, Juan A.;
    • Absil, Julie;
    • Alhusaini, Saud;
    • Alvim, Marina K. M.;
    • Auvinen, Pia;
    • Bargallo, Nuria
    Publication type:
    Article
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    Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated <i>LRRK2</i> Locus.

    Published in:
    PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724
    By:
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Emmett, Warren;
    • Ramasamy, Adaikalavan;
    • Lackner, Karl J.;
    • Zeller, Tanja;
    • Walker, Robert;
    • Smith, Colin;
    • Lewis, Patrick A.;
    • Mamais, Adamantios;
    • de Silva, Rohan;
    • Vandrovcova, Jana;
    • Hernandez, Dena;
    • Nalls, Michael A.;
    • Sharma, Manu;
    • Garnier, Sophie;
    • Lesage, Suzanne;
    • Simon-Sanchez, Javier;
    • Gasser, Thomas;
    • Heutink, Peter
    Publication type:
    Article
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    Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

    Published in:
    PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022489
    By:
    • Devine, Michael J.;
    • Kaganovich, Alice;
    • Ryten, Mina;
    • Mamais, Adamantios;
    • Trabzuni, Daniah;
    • Manzoni, Claudia;
    • McGoldrick, Philip;
    • Diane Chan;
    • Dillman, Allissa;
    • Zerle, Julia;
    • Horan, Susannah;
    • Taanman, Jan-Willem;
    • Hardy, John;
    • Marti-Masso, Jose-Felix;
    • Healey, Daniel;
    • Schapira, Anthony H.;
    • Wolozin, Benjamin;
    • Bandopadhyay, Rina;
    • Cookson, Mark R.;
    • van der Brug, Marcel P.
    Publication type:
    Article
    18

    The ENIGMA‐Epilepsy working group: Mapping disease from large data sets.

    Published in:
    Human Brain Mapping, 2022, v. 43, n. 1, p. 113, doi. 10.1002/hbm.25037
    By:
    • Sisodiya, Sanjay M.;
    • Whelan, Christopher D.;
    • Hatton, Sean N.;
    • Huynh, Khoa;
    • Altmann, Andre;
    • Ryten, Mina;
    • Vezzani, Annamaria;
    • Caligiuri, Maria Eugenia;
    • Labate, Angelo;
    • Gambardella, Antonio;
    • Ives‐Deliperi, Victoria;
    • Meletti, Stefano;
    • Munsell, Brent C.;
    • Bonilha, Leonardo;
    • Tondelli, Manuela;
    • Rebsamen, Michael;
    • Rummel, Christian;
    • Vaudano, Anna Elisabetta;
    • Wiest, Roland;
    • Balachandra, Akshara R.
    Publication type:
    Article
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    Investigation of the genetic aetiology of Lewy body diseases with and without dementia.

    Published in:
    Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae190
    By:
    • Wu, Lesley Yue;
    • Real, Raquel;
    • Martinez-Carrasco, Alejandro;
    • Chia, Ruth;
    • Lawton, Michael A;
    • Shoai, Maryam;
    • Bresner, Catherine;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew B;
    • Ryten, Mina;
    • Consortium, International Lewy Body Dementia Genomics;
    • Scholz, Sonja W;
    • Traynor, Bryan J;
    • Williams, Nigel M;
    • Hu, Michele T M;
    • Ben-Shlomo, Yoav;
    • Grosset, Donald G;
    • Hardy, John;
    • Morris, Huw R
    Publication type:
    Article
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    Antisense oligonucleotide–mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC–derived striatal neurons.

    Published in:
    Science Translational Medicine, 2025, v. 17, n. 785, p. 1, doi. 10.1126/scitranslmed.adn4600
    By:
    • Bunting, Emma L.;
    • Donaldson, Jasmine;
    • Cumming, Sarah A.;
    • Olive, Jessica;
    • Broom, Elizabeth;
    • Miclăuș, Mihai;
    • Hamilton, Joseph;
    • Tegtmeyer, Matthew;
    • Zhao, Hien T.;
    • Brenton, Jonathan;
    • Lee, Won-Seok;
    • Handsaker, Robert E.;
    • Li, Susan;
    • Ford, Brittany;
    • Ryten, Mina;
    • McCarroll, Steven A.;
    • Kordasiewicz, Holly B.;
    • Monckton, Darren G.;
    • Balmus, Gabriel;
    • Flower, Michael
    Publication type:
    Article
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    Large-scale rare variant burden testing in Parkinson's disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4622, doi. 10.1093/brain/awad214
    By:
    • Makarious, Mary B;
    • Lake, Julie;
    • Pitz, Vanessa;
    • Fu, Allen Ye;
    • Guidubaldi, Joseph L;
    • Solsberg, Caroline Warly;
    • Bandres-Ciga, Sara;
    • Leonard, Hampton L;
    • Kim, Jonggeol Jeffrey;
    • Billingsley, Kimberley J;
    • Grenn, Francis P;
    • Jerez, Pilar Alvarez;
    • Alvarado, Chelsea X;
    • Iwaki, Hirotaka;
    • Ta, Michael;
    • Vitale, Dan;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John
    Publication type:
    Article
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    Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1873, doi. 10.1093/brain/awac414
    By:
    • Real, Raquel;
    • Martinez-Carrasco, Alejandro;
    • Reynolds, Regina H;
    • Lawton, Michael A;
    • Tan, Manuela M X;
    • Shoai, Maryam;
    • Corvol, Jean-Christophe;
    • Ryten, Mina;
    • Bresner, Catherine;
    • Hubbard, Leon;
    • Brice, Alexis;
    • Lesage, Suzanne;
    • Faouzi, Johann;
    • Elbaz, Alexis;
    • Artaud, Fanny;
    • Williams, Nigel;
    • Hu, Michele T M;
    • Ben-Shlomo, Yoav;
    • Grosset, Donald G;
    • Hardy, John
    Publication type:
    Article
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    Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.

    Published in:
    2020
    By:
    • Mencacci, Niccolò E;
    • Reynolds, Regina;
    • Ruiz, Sonia Garcia;
    • Vandrovcova, Jana;
    • Forabosco, Paola;
    • Sánchez-Ferrer, Alvaro;
    • Volpato, Viola;
    • Consortium, UK Brain Expression;
    • Consortium, International Parkinson's Disease Genomics;
    • Weale, Michael E;
    • Bhatia, Kailash P;
    • Webber, Caleb;
    • Hardy, John;
    • Botía, Juan A;
    • Ryten, Mina;
    • UK Brain Expression Consortium;
    • International Parkinson’s Disease Genomics Consortium
    Publication type:
    journal article
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    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3140, doi. 10.1093/brain/awt233
    By:
    • Kasperavičiūtė, Dalia;
    • Catarino, Claudia B.;
    • Matarin, Mar;
    • Leu, Costin;
    • Novy, Jan;
    • Tostevin, Anna;
    • Leal, Bárbara;
    • Hessel, Ellen V. S.;
    • Hallmann, Kerstin;
    • Hildebrand, Michael S.;
    • Dahl, Hans-Henrik M.;
    • Ryten, Mina;
    • Trabzuni, Daniah;
    • Ramasamy, Adaikalavan;
    • Alhusaini, Saud;
    • Doherty, Colin P.;
    • Dorn, Thomas;
    • Hansen, Jörg;
    • Krämer, Günter;
    • Steinhoff, Bernhard J.
    Publication type:
    Article
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    Genome‐Wide Analysis of Structural Variants in Parkinson Disease.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
    By:
    • Billingsley, Kimberley J.;
    • Ding, Jinhui;
    • Jerez, Pilar Alvarez;
    • Illarionova, Anastasia;
    • Levine, Kristin;
    • Grenn, Francis P.;
    • Makarious, Mary B.;
    • Moore, Anni;
    • Vitale, Daniel;
    • Reed, Xylena;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John;
    • Chia, Ruth;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Dalgard, Clifton L.;
    • Ehrlich, Debra J.;
    • Tanaka, Toshiko
    Publication type:
    Article
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    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    Published in:
    2019
    By:
    • Chelban, Viorica;
    • Wilson, Matthew P.;
    • Warman Chardon, Jodi;
    • Vandrovcova, Jana;
    • Zanetti, M. Natalia;
    • Zamba‐Papanicolaou, Eleni;
    • Efthymiou, Stephanie;
    • Pope, Simon;
    • Conte, Maria R.;
    • Abis, Giancarlo;
    • Liu, Yo‐Tsen;
    • Tribollet, Eloise;
    • Haridy, Nourelhoda A.;
    • Botía, Juan A.;
    • Ryten, Mina;
    • Nicolaou, Paschalis;
    • Minaidou, Anna;
    • Christodoulou, Kyproula;
    • Kernohan, Kristin D.;
    • Eaton, Alison
    Publication type:
    journal article
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    Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    2013
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E;
    • Davis, Mary;
    • Macdonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P;
    • Medlar, Alan J;
    • Stanescu, Horia C;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W;
    • Houlden, Henry
    Publication type:
    journal article
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    Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

    Published in:
    Annals of Neurology, 2013, v. 73, n. 4, p. 546, doi. 10.1002/ana.23832
    By:
    • Hersheson, Joshua;
    • Mencacci, Niccolo E.;
    • Davis, Mary;
    • MacDonald, Nicola;
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Pittman, Alan;
    • Paudel, Reema;
    • Kara, Eleanna;
    • Fawcett, Katherine;
    • Plagnol, Vincent;
    • Bhatia, Kailash P.;
    • Medlar, Alan J.;
    • Stanescu, Horia C.;
    • Hardy, John;
    • Kleta, Robert;
    • Wood, Nicholas W.;
    • Houlden, Henry
    Publication type:
    Article
    44

    Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

    Published in:
    NPJ Parkinson's Disease, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41531-019-0080-x
    By:
    • Billingsley, Kimberley J.;
    • Barbosa, Ines A.;
    • Bandrés-Ciga, Sara;
    • Quinn, John P.;
    • Bubb, Vivien J.;
    • Deshpande, Charu;
    • Botia, Juan A.;
    • Reynolds, Regina H.;
    • Zhang, David;
    • Simpson, Michael A.;
    • Blauwendraat, Cornelis;
    • Gan-Or, Ziv;
    • Gibbs, J. Raphael;
    • Nalls, Mike A.;
    • Singleton, Andrew;
    • Ryten, Mina;
    • Koks, Sulev
    Publication type:
    Article
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    CoExp: A Web Tool for the Exploitation of Co-expression Networks.

    Published in:
    Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.630187
    By:
    • García-Ruiz, Sonia;
    • Gil-Martínez, Ana L.;
    • Cisterna, Alejandro;
    • Jurado-Ruiz, Federico;
    • Reynolds, Regina H.;
    • Cookson, Mark R.;
    • Hardy, John;
    • Ryten, Mina;
    • Botía, Juan A.
    Publication type:
    Article
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    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
    By:
    • Trabzuni, Daniah;
    • Wray, Selina;
    • Vandrovcova, Jana;
    • Ramasamy, Adaikalavan;
    • Walker, Robert;
    • Smith, Colin;
    • Luk, Connie;
    • Gibbs, J. Raphael;
    • Dillman, Allissa;
    • Hernandez, Dena G.;
    • Arepalli, Sampath;
    • Singleton, Andrew B.;
    • Cookson, Mark R.;
    • Pittman, Alan M.;
    • de Silva, Rohan;
    • Weale, Michael E.;
    • Hardy, John;
    • Ryten, Mina
    Publication type:
    Article
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    Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
    By:
    • Chen, Zhongbo;
    • Maroofian, Reza;
    • Başak, A. Nazlı;
    • Shingavi, Leena;
    • Karakaya, Mert;
    • Efthymiou, Stephanie;
    • Gustavsson, Emil K.;
    • Meier, Leyla;
    • Polavarapu, Kiran;
    • Vengalil, Seena;
    • Preethish‐Kumar, Veeramani;
    • Nandeesh, Bevinahalli N.;
    • Gökçe Güneş, Nalan;
    • Akan, Onur;
    • Candan, Fatma;
    • Schrank, Bertold;
    • Zuchner, Stephan;
    • Murphy, David;
    • Kapoor, Mahima;
    • Ryten, Mina
    Publication type:
    Article
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