Works matching AU Shoubridge, Eric A.

Results: 80
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    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.

    Published in:
    Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
    By:
    • Kernohan, Kristin D.;
    • Dyment, David A.;
    • Pupavac, Mihaela;
    • Cramer, Zvi;
    • McBride, Arran;
    • Bernard, Genevieve;
    • Straub, Isabella;
    • Tetreault, Martine;
    • Hartley, Taila;
    • Huang, Lijia;
    • Sell, Erick;
    • Majewski, Jacek;
    • Rosenblatt, David S.;
    • Shoubridge, Eric;
    • Mhanni, Aziz;
    • Myers, Tara;
    • Proud, Virginia;
    • Vergano, Samanta;
    • Spangler, Brooke;
    • Farrow, Emily
    Publication type:
    Article
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    Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

    Published in:
    Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037
    By:
    • Pupavac, Mihaela;
    • Watkins, David;
    • Petrella, Francis;
    • Fahiminiya, Somayyeh;
    • Janer, Alexandre;
    • Cheung, Warren;
    • Gingras, Anne‐Claude;
    • Pastinen, Tomi;
    • Muenzer, Joseph;
    • Majewski, Jacek;
    • Shoubridge, Eric A.;
    • Rosenblatt, David S.
    Publication type:
    Article
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    Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

    Published in:
    Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
    By:
    • Schwartzentruber, Jeremy;
    • Buhas, Daniela;
    • Majewski, Jacek;
    • Sasarman, Florin;
    • Papillon‐Cavanagh, Simon;
    • Thiffault, Isabelle;
    • Sheldon, Katherine M.;
    • Massicotte, Christine;
    • Patry, Lysanne;
    • Simon, Mariella;
    • Zare, Amir S.;
    • McKernan, Kevin J.;
    • Consortium, FORGE Canada;
    • Michaud, Jacques;
    • Boles, Richard G.;
    • Deal, Cheri L.;
    • Desilets, Valerie;
    • Shoubridge, Eric A.;
    • Samuels, Mark E.
    Publication type:
    Article
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    Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
    By:
    • Schwartzentruber, Jeremy;
    • Buhas, Daniela;
    • Majewski, Jacek;
    • Sasarman, Florin;
    • Papillon‐Cavanagh, Simon;
    • Thiffaut, Isabelle;
    • Sheldon, Katherine M.;
    • Massicotte, Christine;
    • Patry, Lysanne;
    • Simon, Mariella;
    • Zare, Amir S.;
    • McKernan, Kevin J.;
    • Michaud, Jacques;
    • Boles, Richard G.;
    • Deal, Cheri L.;
    • Desilets, Valerie;
    • Shoubridge, Eric A.;
    • Samuels, Mark E.
    Publication type:
    Article
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    Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
    By:
    • Coelho, David;
    • Kim, Jaeseung C;
    • Miousse, Isabelle R;
    • Fung, Stephen;
    • du Moulin, Marcel;
    • Buers, Insa;
    • Suormala, Terttu;
    • Burda, Patricie;
    • Frapolli, Michele;
    • Stucki, Martin;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Robenek, Horst;
    • Höhne, Wolfgang;
    • Longo, Nicola;
    • Pasquali, Marzia;
    • Mengel, Eugen;
    • Watkins, David;
    • Shoubridge, Eric A;
    • Majewski, Jacek
    Publication type:
    Article
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    Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

    Published in:
    2006
    By:
    • Lerner-Ellis, Jordan P.;
    • Tirone, Jamie C.;
    • Pawelek, Peter D.;
    • Doré, Carole;
    • Atkinson, Janet L.;
    • Watkins, David;
    • Morel, Chantal F.;
    • Fujiwara, T. Mary;
    • Moras, Emily;
    • Hosack, Angela R.;
    • Dunbar, Gail V.;
    • Antonicka, Hana;
    • Forgetta, Vince;
    • Dobson, C. Melissa;
    • Leclerc, Daniel;
    • Gravel, Roy A.;
    • Shoubridge, Eric A.;
    • Coulton, James W.;
    • Lepage, Pierre;
    • Rommens, Johanna M.
    Publication type:
    Correction Notice
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    Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

    Published in:
    Nature Genetics, 2006, v. 38, n. 1, p. 93, doi. 10.1038/ng1683
    By:
    • Lerner-Ellis, Jordan P;
    • Tirone, Jamie C;
    • Pawelek, Peter D;
    • Doré, Carole;
    • Atkinson, Janet L;
    • Watkins, David;
    • Morel, Chantal F;
    • Fujiwara, T Mary;
    • Moras, Emily;
    • Hosack, Angela R;
    • Dunbar, Gail V;
    • Antonicka, Hana;
    • Forgetta, Vince;
    • Dobson, C Melissa;
    • Leclerc, Daniel;
    • Gravel, Roy A;
    • Shoubridge, Eric A;
    • Coulton, James W;
    • Lepage, Pierre;
    • Rommens, Johanna M
    Publication type:
    Article
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    A debut for mito-mouse.

    Published in:
    Nature Genetics, 2000, v. 26, n. 2, p. 132, doi. 10.1038/79832
    By:
    • Shoubridge, Eric A
    Publication type:
    Article
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    The 3' addition of CCA to mitochondrial tRNA<sup>Ser(AGY)</sup> is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 10, p. 2841, doi. 10.1093/hmg/ddv044
    By:
    • Sasarman, Florin;
    • Thiffault, Isabelle;
    • Weraarpachai, Woranontee;
    • Salomon, Steven;
    • Maftei, Catalina;
    • Gauthier, Julie;
    • Ellazam, Benjamin;
    • Webb, Neil;
    • Antonicka, Hana;
    • Janer, Alexandre;
    • Brunel-Guitton, Catherine;
    • Elpeleg, Orly;
    • Mitchell, Grant;
    • Shoubridge, Eric A.
    Publication type:
    Article
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    Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

    Published in:
    2016
    By:
    • Choquet, Karine;
    • Zurita-Rendón, Olga;
    • La Piana, Roberta;
    • Sharon Yang;
    • Dicaire, Marie-Joseè;
    • Boycott, Kym M.;
    • Majewski, Jacek;
    • Shoubridge, Eric A.;
    • Brais, Bernard;
    • Tètreault, Martine;
    • Yoon, Grace;
    • Delague, Valèrie;
    • Mègarbane, Andrè;
    • Isaya, Grazia;
    • Yang, Sharon;
    • Dicaire, Marie-Josée;
    • Care4Rare Consortium;
    • Tétreault, Martine
    Publication type:
    Case Study
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    Reply.

    Published in:
    Annals of Neurology, 1995, v. 38, n. 2, p. 274, doi. 10.1002/ana.410380226
    By:
    • Karpati, George;
    • Shoubridge, Eric
    Publication type:
    Article