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  1. Dominov, Janice A. [Author]; Uyan, Özgün [Author]; McKenna‐Yasek, Diane [Author]; Nallamilli, Babi Ramesh Reddy [Author]; Kergourlay, Virginie [Author]; Bartoli, Marc [Author]; Levy, Nicolas [Author]; Hudson, Judith [Author]; Evangelista, Teresinha [Author]; Lochmüller, Hanns [Author]; Krahn, Martin [Author]; Rufibach, Laura [Author]; Hegde, Madhuri [Author]; Brown, Robert H. [Author]

    Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

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    Chichester [u.a.]: Wiley, 2019

    Published in: Annals of clinical and translational neurology ; 6, 4 (2019), 642-654

  2. Opie-Martin, Sarah [Author]; Iacoangeli, Alfredo [Author]; Topp, Simon D. [Author]; Abel, Olubunmi [Author]; Mayl, Keith [Author]; Mehta, Puja R. [Author]; Shatunov, Aleksey [Author]; Fogh, Isabella [Author]; Bowles, Harry [Author]; Limbachiya, Naomi [Author]; Spargo, Thomas P. [Author]; Al-Khleifat, Ahmad [Author]; Williams, Kelly L. [Author]; Jockel-Balsarotti, Jennifer [Author]; Bali, Taha [Author]; Self, Wade [Author]; Henden, Lyndal [Author]; Nicholson, Garth A. [Author]; Ticozzi, Nicola [Author]; McKenna-Yasek, Diane [Author]; Tang, Lu [Author]; Shaw, Pamela J. [Author]; Chio, Adriano [Author]; Ludolph, Albert C. [Author]; [...]

    The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

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    12 November 2022

    Published in: Nature Communications ; 13(2022), Artikel-ID 6901, Seite 1-9

  9. Fridman, Vera; Novak, Peter; David, William; Macklin, Eric; McKenna-Yasek, Diane; Walsh, Kailey; Oaklander, Anne Louise; Brown, Robert; Hornemann, Thorsten; Eichler, Florian

    A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, DELAYED-START TRIAL TO EVALUATE THE SAFETY AND EFFICACY OF L-SERINE IN SUBJECTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 (HSAN1) (S45.001)

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    Ovid Technologies (Wolters Kluwer Health), 2017

    Published in: Neurology, 88 (2017) 16_supplement

  11. Jones, Takako I; Yan, Chi; Sapp, Peter C; McKenna-Yasek, Diane; Kang, Peter B; Quinn, Colin; Salameh, Johnny S; King, Oliver D; Jones, Peter L

    Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

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    Springer Science and Business Media LLC, 2014

    Published in: Clinical Epigenetics, 6 (2014) 1

  14. Bosco, Daryl A.; Lemay, Nathan; Ko, Hae Kyung; Zhou, Hongru; Burke, Chris; Kwiatkowski, Thomas J.; Sapp, Peter; McKenna-Yasek, Diane; Brown, Robert H.; Hayward, Lawrence J.

    Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

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    Oxford University Press (OUP), 2010

    Published in: Human Molecular Genetics, 19 (2010) 21, Seite 4160-4175

  15. Sapp, Peter C; Rosen, Daniel R; Hosler, Betsy A; Esteban, Jesus; McKenna-Yasek, Diane; O'regan, Jeremiah P; Horvitz, H.Robert; Brown, Robert H

    Identification of three novel mutations in the gene for CuZn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

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    Elsevier BV, 1995

    Published in: Neuromuscular Disorders, 5 (1995) 5, Seite 353-357

  16. Dominov, Janice A.; Uyan, Özgün; McKenna‐Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmuller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H.

    Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

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    Wiley, 2019

    Published in: Annals of Clinical and Translational Neurology, 6 (2019) 4, Seite 642-654

  17. Berry, James D.; Cudkowicz, Merit E.; Windebank, Anthony J.; Staff, Nathan P.; Owegi, Margaret; Nicholson, Katherine; McKenna-Yasek, Diane; Levy, Yossef S.; Abramov, Natalie; Kaspi, Haggai; Mehra, Munish; Aricha, Revital; Gothelf, Yael; Brown, Robert H.

    NurOwn, phase 2, randomized, clinical trial in patients with ALS : Safety, clinical, and biomarker results : Safety, clinical, and biomarker results

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    Ovid Technologies (Wolters Kluwer Health), 2019

    Published in: Neurology, 93 (2019) 24

  18. Fridman, Vera; Suriyanarayanan, Saranya; Novak, Peter; David, William; Macklin, Eric A.; McKenna-Yasek, Diane; Walsh, Kailey; Aziz-Bose, Razina; Oaklander, Anne Louise; Brown, Robert; Hornemann, Thorsten; Eichler, Florian

    Randomized trial of l -serine in patients with hereditary sensory and autonomic neuropathy type 1

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    Ovid Technologies (Wolters Kluwer Health), 2019

    Published in: Neurology, 92 (2019) 4

  19. Yang, Chunxing; Wang, Hongyan; Qiao, Tao; Yang, Bin; Aliaga, Leonardo; Qiu, Linghua; Tan, Weijia; Salameh, Johnny; McKenna-Yasek, Diane M.; Smith, Thomas; Peng, Lingtao; Moore, Melissa J.; Brown, Robert H.; Cai, Huaibin; Xu, Zuoshang

    Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

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    Proceedings of the National Academy of Sciences, 2014

    Published in: Proceedings of the National Academy of Sciences, 111 (2014) 12

  20. González-Pérez, Paloma; Cirulli, Elizabeth T.; Drory, Vivian E.; Dabby, Ron; Nisipeanu, Puiu; Carasso, Ralph L.; Sadeh, Menachem; Fox, Andrew; Festoff, Barry W.; Sapp, Peter C.; McKenna-Yasek, Diane; Goldstein, David B.; Brown, Robert H.; Blumen, Sergiu C.

    Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

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    Ovid Technologies (Wolters Kluwer Health), 2012

    Published in: Neurology, 79 (2012) 22, Seite 2201-2208