Works by Braverman, Nancy


Results: 46
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    Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1884, doi. 10.3390/ijms24031884
    By:
    • Dorninger, Fabian;
    • Kiss, Attila;
    • Rothauer, Peter;
    • Stiglbauer-Tscholakoff, Alexander;
    • Kummer, Stefan;
    • Fallatah, Wedad;
    • Perera-Gonzalez, Mireia;
    • Hamza, Ouafa;
    • König, Theresa;
    • Bober, Michael B.;
    • Cavallé-Garrido, Tiscar;
    • Braverman, Nancy E.;
    • Forss-Petter, Sonja;
    • Pifl, Christian;
    • Bauer, Jan;
    • Bittner, Reginald E.;
    • Helbich, Thomas H.;
    • Podesser, Bruno K.;
    • Todt, Hannes;
    • Berger, Johannes
    Publication type:
    Article
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    A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
    By:
    • de Mollerat, Xavier J.;
    • Gurrieri, Fiorella;
    • Morgan, Chad T.;
    • Sangiorgi, Eugenio;
    • Everman, David B.;
    • Gaspari, Paola;
    • Amiel, Jeanne;
    • Bamshad, Michael J.;
    • Lyle, Robert;
    • Blouin, Jean-Louis;
    • Allanson, Judith E.;
    • Le Marec, Bernard;
    • Wilson, Melba;
    • Braverman, Nancy E.;
    • Radhakrishna, Uppala;
    • Delozier-Blanchet, Celia;
    • Abbott, Albert;
    • Elghouzzi, Vincent;
    • Antonarakis, Stylianos;
    • Stevenson, Roger E.
    Publication type:
    Article
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    Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance.

    Published in:
    Autophagy, 2022, v. 18, n. 3, p. 540, doi. 10.1080/15548627.2021.1936932
    By:
    • Dahabieh, Michael S.;
    • Huang, Fan;
    • Goncalves, Christophe;
    • Flores González, Raúl Ernesto;
    • Prabhu, Sathyen;
    • Bolt, Alicia;
    • Di Pietro, Erminia;
    • Khoury, Elie;
    • Heath, John;
    • Xu, Zi Yi;
    • Rémy-Sarrazin, Joelle;
    • Mann, Koren K.;
    • Orthwein, Alexandre;
    • Boisvert, François-Michel;
    • Braverman, Nancy;
    • Miller, Wilson H.;
    • del Rincón, Sonia V.
    Publication type:
    Article
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    Progressive cavitating leukoencephalopathy: A novel childhood disease.

    Published in:
    Annals of Neurology, 2005, v. 58, n. 6, p. 929
    By:
    • SakkuBai Naidu;
    • Genila Bibat;
    • Doris Lin;
    • Peter Burger;
    • Peter Barker;
    • Sergio Rosemberg;
    • Nancy Braverman;
    • Hugo Arroyo;
    • Michael Dowling;
    • Ada Hamosh;
    • Virginia Kimonis;
    • Carol Blank;
    • Agata Fiumara;
    • Sergio Facchini;
    • Bhim Singhal;
    • Hugo Moser;
    • Richard Kelley;
    • Salvatore DiMauro
    Publication type:
    Article
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    Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

    Published in:
    Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7
    By:
    • Cheung, Anthony;
    • Argyriou, Catherine;
    • Yergeau, Christine;
    • D'Souza, Yasmin;
    • Riou, Émilie;
    • Lévesque, Sébastien;
    • Raymond, Gerald;
    • Daba, Mebratu;
    • Rtskhiladze, Irakli;
    • Tkemaladze, Tinatin;
    • Adang, Laura;
    • La Piana, Roberta;
    • Bernard, Geneviève;
    • Braverman, Nancy
    Publication type:
    Article
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    Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.

    Published in:
    Pflügers Archiv: European Journal of Physiology, 2004, v. 448, n. 4, p. 438, doi. 10.1007/s00424-004-1278-1
    By:
    • Inatomi, Jun;
    • Horita, Shoko;
    • Braverman, Nancy;
    • Sekine, Takashi;
    • Yamada, Hideomi;
    • Suzuki, Yoshiro;
    • Kawahara, Katsumasa;
    • Moriyama, Nobuo;
    • Kudo, Akihiko;
    • Kawakami, Hayato;
    • Shimadzu, Mitsunobu;
    • Endou, Hitoshi;
    • Fujita, Toshiro;
    • Seki, George;
    • Igarashi, Takashi
    Publication type:
    Article
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    Clinical utility of methionine restriction in adenosine kinase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 52, doi. 10.1002/jmd2.12238
    By:
    • Almuhsen, Najmah;
    • Guay, Simon‐pierre;
    • Lefrancois, Marie;
    • Gauvin, Cheryl;
    • Al Bahlani, AL Qasim;
    • Ahmed, Najma;
    • Saint‐Martin, Christine;
    • Gagnon, Tommy;
    • Waters, Paula;
    • Braverman, Nancy;
    • Buhas, D.
    Publication type:
    Article
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    Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

    Published in:
    Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317
    By:
    • Amir Yazdani, Pouneh;
    • St-Jean, Marie-Lou;
    • Matovic, Sara;
    • Spahr, Aaron;
    • Tran, Luan T.;
    • Boucher, Renée-Myriam;
    • Poulin, Chantal;
    • Osterman, Bradley;
    • Srour, Myriam;
    • Rosenblatt, Bernard;
    • Chenier, Sébastien;
    • Soucy, Jean-Francois;
    • Laberge, Anne-Marie;
    • Braverman, Nancy;
    • D'Agostino, Maria Daniela;
    • Nguyen, Cam-Tu Emilie;
    • Morsa, Maxime;
    • Bernard, Geneviève
    Publication type:
    Article
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    The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.

    Published in:
    EMBO Reports, 2021, v. 22, n. 10, p. 1, doi. 10.15252/embr.202051991
    By:
    • Nuebel, Esther;
    • Morgan, Jeffrey T;
    • Fogarty, Sarah;
    • Winter, Jacob M;
    • Lettlova, Sandra;
    • Berg, Jordan A;
    • Chen, Yu‐Chan;
    • Kidwell, Chelsea U;
    • Maschek, J Alan;
    • Clowers, Katie J;
    • Argyriou, Catherine;
    • Chen, Lingxiao;
    • Wittig, Ilka;
    • Cox, James E;
    • Roh‐Johnson, Minna;
    • Braverman, Nancy;
    • Bonkowsky, Joshua;
    • Gygi, Steven P;
    • Rutter, Jared
    Publication type:
    Article