Works matching AU Gleeson, Joseph G.

Results: 89
    1

    HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047
    By:
    • Lee, Eun Hye;
    • Kim‐Mcmanus, Olivia;
    • Yang, Jennifer H.;
    • Haas, Richard;
    • Zaki, Maha S.;
    • Abdel‐Salam, Ghada M. H.;
    • Nakamura, Yuji;
    • Abdel‐Hamind, Mohamed S.;
    • Ebrahimi‐Fakhari, Darius;
    • Alecu, Julian E.;
    • Brunetti‐Pierri, Nicola;
    • Srinivasan, Varunvenkat M.;
    • Gowda, Vykuntaraju K.;
    • Gross, Stephanie;
    • Alanay, Yasemin;
    • Najarzadeh Totbati, Paria;
    • Yadavilli, Manya;
    • Friedman, Liana;
    • Ojeda, Naomi Meave;
    • Gleeson, Joseph G.
    Publication type:
    Article
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    A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54077-5
    By:
    • Kim-McManus, Olivia;
    • Gleeson, Joseph G.;
    • Mignon, Laurence;
    • Smith Fine, Amena;
    • Yan, Winston;
    • Nolen, Nicole;
    • Demarest, Scott;
    • Berry-Kravis, Elizabeth;
    • Finkel, Richard;
    • Leonard, Stefanie;
    • Finlayson, Samuel;
    • Augustine, Erika;
    • Lyon, Gholson J.;
    • Schule, Rebecca;
    • Yu, Timothy
    Publication type:
    Article
    4

    Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2757, doi. 10.1002/ajmg.a.63363
    By:
    • Beaman, M. Makenzie;
    • Guidugli, Lucia;
    • Hammer, Monia;
    • Barrows, Chelsea;
    • Gregor, Anne;
    • Lee, Sangmoon;
    • Deak, Kristen L.;
    • McDonald, Marie T.;
    • Jensen, Courtney;
    • Zaki, Maha S.;
    • Masri, Amira T.;
    • Hobbs, Charlotte A.;
    • Gleeson, Joseph G.;
    • Cohen, Jennifer L.
    Publication type:
    Article
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    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
    9

    Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.

    Published in:
    Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986
    By:
    • Johannesen, Katrine M.;
    • Gardella, Elena;
    • Linnankivi, Tarja;
    • Courage, Carolina;
    • de Saint Martin, Anne;
    • Lehesjoki, Anna‐Elina;
    • Mignot, Cyril;
    • Afenjar, Alexandra;
    • Lesca, Gaetan;
    • Abi‐Warde, Marie‐Thérèse;
    • Chelly, Jamel;
    • Piton, Amélie;
    • Merritt, II, J. Lawrence;
    • Rodan, Lance H.;
    • Tan, Wen‐Hann;
    • Bird, Lynne M.;
    • Nespeca, Mark;
    • Gleeson, Joseph G.;
    • Yoo, Yongjin;
    • Choi, Murim
    Publication type:
    Article
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    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
    By:
    • Tiosano, Dov;
    • Baris, Hagit N.;
    • Chen, Anlu;
    • Hitzert, Marrit M.;
    • Schueler, Markus;
    • Gulluni, Federico;
    • Wiesener, Antje;
    • Bergua, Antonio;
    • Mory, Adi;
    • Copeland, Brett;
    • Gleeson, Joseph G.;
    • Rump, Patrick;
    • van Meer, Hester;
    • Sival, Deborah A.;
    • Haucke, Volker;
    • Kriwinsky, Josh;
    • Knaup, Karl X.;
    • Reis, André;
    • Hauer, Nadine N.;
    • Hirsch, Emilio
    Publication type:
    Article
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    The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481
    By:
    • Elkhateeb, Nour;
    • Issa, Mahmoud Y.;
    • Elbendary, Hasnaa M.;
    • Elnaggar, Walaa;
    • Ramadan, Areef;
    • Rafat, Karima;
    • Kamel, Mona;
    • Abdel‐Ghafar, Sherif F.;
    • Amer, Fawzia;
    • Hassaan, Hebatallah M.;
    • Trunzo, Roberta;
    • Pereira, Catarina;
    • Abdel‐Hamid, Mohamed S.;
    • D'Arco, Felice;
    • Bauer, Peter;
    • Bertoli‐Avella, Aida M.;
    • Girgis, Marian;
    • Gleeson, Joseph G.;
    • Zaki, Maha S.;
    • Selim, Laila
    Publication type:
    Article
    15

    Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338
    By:
    • Zaki, Maha S.;
    • Sharaf‐Eldin, Wessam E.;
    • Rafat, Karima;
    • Elbendary, Hasnaa M.;
    • Kamel, Mona;
    • Elkhateeb, Nour;
    • Noureldeen, Mahmoud M.;
    • Abdeltawab, Mohamed A.;
    • Sadek, Abdelrahim A.;
    • Essawi, Mona L.;
    • Lau, Tracy;
    • Murphy, David;
    • Abdel‐Hamid, Mohamed S.;
    • Holuden, Henry;
    • Issa, Mahmoud Y.;
    • Gleeson, Joseph G.
    Publication type:
    Article
    16

    Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 4, p. 537, doi. 10.1111/cge.13492
    By:
    • Mahmoud, Iman G.;
    • Elkhateeb, Nour M.;
    • Elnaggar, Walaa;
    • Sobhi, Ahmed;
    • Girgis, Marian Y.;
    • Kamel, Mona;
    • Shaheen, Yara;
    • Samaha, Mona;
    • Ramadan, Areef;
    • Hassan, Sawsan A.;
    • Khalifa, Iman A.;
    • Mossad, Fawzya;
    • Al‐Menabawy, Nihal M.;
    • Selim, Laila A.;
    • Elmonem, Mohamed A.;
    • Zaki, Maha S.;
    • El‐Hawary, Bahaa;
    • Zielke, Susanne;
    • Rolfs, Arndt;
    • Gleeson, Joseph G.
    Publication type:
    Article
    17

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
    By:
    • Bronicki, Lucas M;
    • Redin, Claire;
    • Drunat, Severine;
    • Piton, Amélie;
    • Lyons, Michael;
    • Passemard, Sandrine;
    • Baumann, Clarisse;
    • Faivre, Laurence;
    • Thevenon, Julien;
    • Rivière, Jean-Baptiste;
    • Isidor, Bertrand;
    • Gan, Grace;
    • Francannet, Christine;
    • Willems, Marjolaine;
    • Gunel, Murat;
    • Jones, Julie R;
    • Gleeson, Joseph G;
    • Mandel, Jean-Louis;
    • Stevenson, Roger E;
    • Friez, Michael J
    Publication type:
    Article
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    Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 6, p. 623, doi. 10.1038/ng1805
    By:
    • Valente, Enza Maria;
    • Silhavy, Jennifer L.;
    • Brancati, Francesco;
    • Barrano, Giuseppe;
    • Krishnaswami, Suguna Rani;
    • Castori, Marco;
    • Lancaster, Madeline A.;
    • Boltshauser, Eugen;
    • Boccone, Loredana;
    • Al-Gazali, Lihadh;
    • Fazzi, Elisa;
    • Signorini, Sabrina;
    • Louie, Carrie M.;
    • Bellacchio, Emanuele;
    • Bertini, Enrico;
    • Dallapiccola, Bruno;
    • Gleeson, Joseph G.
    Publication type:
    Article
    22

    PAK3 mutation in nonsyndromic X-linked mental retardation.

    Published in:
    Nature Genetics, 1998, v. 20, n. 1, p. 25, doi. 10.1038/1675
    By:
    • Allen, Kristina M.;
    • Gleeson, Joseph G.;
    • Bagrodia, Shubha;
    • Partington, Michael W.;
    • MacMillan, John C.;
    • Cerione, Richard A.;
    • Mulley, John C.;
    • Walsh, Christopher A.
    Publication type:
    Article
    23
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    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
    By:
    • Guemez-Gamboa, Alicia;
    • Akizu, Naiara;
    • Rosti, Rasim Ozgur;
    • Rosti, Basak;
    • Scott, Eric;
    • Schroth, Jana;
    • Copeland, Brett;
    • Vaux, Keith K;
    • Gleeson, Joseph G;
    • Nguyen, Long N;
    • Quek, Debra Q Y;
    • Wong, Bernice H;
    • Tan, Bryan C;
    • Silver, David L;
    • Yang, Hongbo;
    • Chi, Neil C;
    • Zaki, Maha S;
    • Kara, Majdi;
    • Ben-Omran, Tawfeg;
    • Cazenave-Gassiot, Amaury
    Publication type:
    Article
    25

    Cytosine-5 RNA methylation links protein synthesis to cell metabolism.

    Published in:
    PLoS Biology, 2019, v. 17, n. 6, p. 1, doi. 10.1371/journal.pbio.3000297
    By:
    • Gkatza, Nikoletta A.;
    • Castro, Cecilia;
    • Harvey, Robert F.;
    • Heiß, Matthias;
    • Popis, Martyna C.;
    • Blanco, Sandra;
    • Bornelöv, Susanne;
    • Sajini, Abdulrahim A.;
    • Gleeson, Joseph G.;
    • Griffin, Julian L.;
    • West, James A.;
    • Kellner, Stefanie;
    • Willis, Anne E.;
    • Dietmann, Sabine;
    • Frye, Michaela
    Publication type:
    Article
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    Linkage and Physical Mapping of X-Linked Lissencephaly/SBH (XLIS): A Gene Causing Neuronal Migration Defects in Human Brain.

    Published in:
    Human Molecular Genetics, 1997, v. 6, n. 4, p. 555, doi. 10.1093/hmg/6.4.555
    By:
    • Ross, M. Elizabeth;
    • Allen, Kristina M.;
    • Srivastava, Anand K.;
    • Featherstone, Terry;
    • Gleeson, Joseph G.;
    • Hirsch, Betsy;
    • Harding, Brian N.;
    • Andermann, Eva;
    • Abdullah, Rabi;
    • Berg, Michael;
    • Czapansky-Bielman, Desireé;
    • Flanders, Dean J.;
    • Guerrini, Renzo;
    • Motté, Jacques;
    • Mira, A. Puche;
    • Scheffer, Ingrid;
    • Berkovic, Samuel;
    • Scaravilli, F.;
    • King, Richard A.;
    • Ledbetter, David H.
    Publication type:
    Article
    32

    Distinguishing the four genetic causes of jouberts syndrome–related disorders.

    Published in:
    Annals of Neurology, 2005, v. 57, n. 4, p. 513
    By:
    • Enza Maria Valente;
    • Sarah E. Marsh;
    • Marco Castori;
    • Tracy Dixon‐Salazar;
    • Enrico Bertini;
    • Lihadh Al‐Gazali;
    • Jean Messer;
    • Clara Barbot;
    • C. Geoffrey Woods;
    • Eugen Boltshauser;
    • Asma A. Al‐Tawari;
    • Carmelo D. Salpietro;
    • Hulya Kayserili;
    • László Sztriha;
    • Moez Gribaa;
    • Michel Koenig;
    • Bruno Dallapiccola;
    • Joseph G. Gleeson
    Publication type:
    Article
    33

    Genetic and neuroradiological heterogeneity of double cortex syndrome.

    Published in:
    2000
    By:
    • Gleeson, Joseph G.;
    • Luo, Robert F.;
    • Grant, P. Ellen;
    • Guerrini, Renzo;
    • Huttenlocher, Peter R.;
    • Berg, Michel J.;
    • Ricci, Stefano;
    • Cusmai, Raffaella;
    • Wheless, James W.;
    • Berkovic, Samuel;
    • Scheffer, Ingrid;
    • Dobyns, William B.;
    • Walsh, Christopher A.;
    • Gleeson, J G;
    • Luo, R F;
    • Grant, P E;
    • Guerrini, R;
    • Huttenlocher, P R;
    • Berg, M J;
    • Ricci, S
    Publication type:
    journal article
    34

    Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

    Published in:
    1999
    By:
    • Gleeson, Joseph G.;
    • Minnerath, Sharon R.;
    • Fox, Jeremy W.;
    • Allen, Kristina M.;
    • Luo, Robert F.;
    • Hong, Susan E.;
    • Berg, Michael J.;
    • Kuzniecky, Ruben;
    • Reitnauer, Pamela J.;
    • Borgatti, Renato;
    • Puche Mira, Alberto;
    • Guerrini, Renzo;
    • Holmes, Gregory L.;
    • Rooney, Cynthia M.;
    • Berkovic, Samuel;
    • Scheffer, Ingrid;
    • Cooper, Edward C.;
    • Ricci, Stefano;
    • Cusmai, Raffaella;
    • Crawford, Thomas O.
    Publication type:
    journal article
    35

    Mapping recurrent mosaic copy number variation in human neurons.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48392-0
    By:
    • Sun, Chen;
    • Kathuria, Kunal;
    • Emery, Sarah B.;
    • Kim, ByungJun;
    • Burbulis, Ian E.;
    • Shin, Joo Heon;
    • Gleeson, Joseph G.;
    • Breuss, Martin W.;
    • Yang, Xiaoxu;
    • Antaki, Danny;
    • Chung, Changuk;
    • Averbuj, Dan;
    • Ball, Laurel L.;
    • Roy, Subhojit;
    • Weinberger, Daniel;
    • Jaffe, Andrew;
    • Paquola, Apua;
    • Erwin, Jennifer;
    • Straub, Richard;
    • Narurkar, Rujuta
    Publication type:
    Article
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    Joubert syndrome: report of 11 cases.

    Published in:
    Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 605
    By:
    • İncecik, Faruk;
    • Hergüner, M. Özlem;
    • Altunbaşak, Şakir;
    • Gleeson, Joseph G.
    Publication type:
    Article
    42

    Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

    Published in:
    Human Genetics, 2024, v. 143, n. 11, p. 1353, doi. 10.1007/s00439-024-02702-0
    By:
    • Cogan, Guillaume;
    • Zaki, Maha S.;
    • Issa, Mahmoud;
    • Keren, Boris;
    • Guillaud-Bataille, Marine;
    • Renaldo, Florence;
    • Isapof, Arnaud;
    • Lallemant, Pauline;
    • Stevanin, Giovanni;
    • Guillot-Noel, Lena;
    • Courtin, Thomas;
    • Buratti, Julien;
    • Freihuber, Cécile;
    • Gleeson, Joseph G.;
    • Howarth, Robyn;
    • Durr, Alexandra;
    • de Sainte Agathe, Jean-Madeleine;
    • Mignot, Cyril
    Publication type:
    Article
    43

    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

    Published in:
    Epilepsia Open, 2020, v. 5, n. 1, p. 97, doi. 10.1002/epi4.12377
    By:
    • Garcia, Camila A. B.;
    • Carvalho, Simone C. S.;
    • Yang, Xiaoxu;
    • Ball, Laurel L.;
    • George, Renee D.;
    • James, Kiely N.;
    • Stanley, Valentina;
    • Breuss, Martin W.;
    • Thomé, Ursula;
    • Santos, Marcelo V.;
    • Saggioro, Fabiano P.;
    • Neder Serafini, Luciano;
    • Silva, Wilson A.;
    • Gleeson, Joseph G.;
    • Machado, Hélio R.
    Publication type:
    Article
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    NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.

    Published in:
    Nucleic Acids Research, 2019, v. 47, n. 16, p. 8720, doi. 10.1093/nar/gkz559
    By:
    • Van Haute, Lindsey;
    • Lee, Song-Yi;
    • McCann, Beverly J;
    • Powell, Christopher A;
    • Bansal, Dhiru;
    • Vasiliauskaitė, Lina;
    • Garone, Caterina;
    • Shin, Sanghee;
    • Kim, Jong-Seo;
    • Frye, Michaela;
    • Gleeson, Joseph G;
    • Miska, Eric A;
    • Rhee, Hyun-Woo;
    • Minczuk, Michal
    Publication type:
    Article
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    Novel STAMBP mutation and additional findings in an Arabic family.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 805, doi. 10.1002/ajmg.a.36782
    By:
    • Faqeih, Eissa A.;
    • Bastaki, Laila;
    • Rosti, Rasim Ozgur;
    • Spencer, Emily G.;
    • Zada, AbdulAli P.;
    • Saleh, Mohammad A. M.;
    • Um, Kyongmi;
    • Gleeson, Joseph G.
    Publication type:
    Article
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