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  1. Saffari, Afshin [Author]; Kellner, Melanie [Author]; Jordan, Catherine [Author]; Rosengarten, Helena [Author]; Mo, Alisa [Author]; Zhang, Bo [Author]; Strelko, Oleksandr [Author]; Neuser, Sonja Anna [Author]; Davis, Marie Y [Author]; Yoshikura, Nobuaki [Author]; Futamura, Naonobu [Author]; Takeuchi, Tomoya [Author]; Nabatame, Shin [Author]; Ishiura, Hiroyuki [Author]; Tsuji, Shoji [Author]; Aldeen, Huda Shujaa [Author]; Cali, Elisa [Author]; Rocca, Clarissa [Author]; Houlden, Henry [Author]; Efthymiou, Stephanie [Author]; Assmann, Birgit [Author]; Yoon, Grace [Author]; Trombetta, Bianca A [Author]; Kivisäkk, Pia [Author]; [...]

    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia : SPG15

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    May 2023

    Published in: Brain ; 146(2023), 5 vom: Mai, Seite 2003-2015

  2. Saffari, Afshin; Kellner, Melanie; Jordan, Catherine; Rosengarten, Helena; Mo, Alisa; Zhang, Bo; Strelko, Oleksandr; Neuser, Sonja; Davis, Marie Y; Yoshikura, Nobuaki; Futamura, Naonobu; Takeuchi, Tomoya; Nabatame, Shin; Ishiura, Hiroyuki; Tsuji, Shoji; Aldeen, Huda Shujaa; Cali, Elisa; Rocca, Clarissa; Houlden, Henry; Efthymiou, Stephanie; Assmann, Birgit; Yoon, Grace; Trombetta, Bianca A; Kivisäkk, Pia; [...]

    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

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    Oxford University Press (OUP), 2023

    Published in: Brain, 146 (2023) 5, Seite 2003-2015

  3. Lin, Sheng-Jia; Vona, Barbara; Lau, Tracy; Huang, Kevin; Zaki, Maha S.; Aldeen, Huda Shujaa; Karimiani, Ehsan Ghayoor; Rocca, Clarissa; Noureldeen, Mahmoud M.; Saad, Ahmed K.; Petree, Cassidy; Bartolomaeus, Tobias; Abou Jamra, Rami; Zifarelli, Giovanni; Gotkhindikar, Aditi; Wentzensen, Ingrid M.; Liao, Mingjuan; Cork, Emalyn Elise; Varshney, Pratishtha; Hashemi, Narges; Mohammadi, Mohammad Hasan; Rad, Aboulfazl; Neira, Juanita; Toosi, Mehran Beiraghi; [...]

    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

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    Springer Science and Business Media LLC, 2023

    Published in: Genome Medicine, 15 (2023) 1