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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Published in:
2019
By:
- Saffari, Afshin;
- Brösse, Ines;
- Wiemer-Kruel, Adelheid;
- Wilken, Bernd;
- Kreuzaler, Paula;
- Hahn, Andreas;
- Bernhard, Matthias K.;
- van Tilburg, Cornelis M.;
- Hoffmann, Georg F.;
- Gorenflo, Matthias;
- Hethey, Sven;
- Kaiser, Olaf;
- Kölker, Stefan;
- Wagner, Robert;
- Witt, Olaf;
- Merkenschlager, Andreas;
- Möckel, Andreas;
- Roser, Timo;
- Schlump, Jan-Ulrich;
- Serfling, Antje
Publication type:
journal article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
Published in:
Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
By:
- Neuser, Sonja;
- Brechmann, Barbara;
- Heimer, Gali;
- Brösse, Ines;
- Schubert, Susanna;
- O'Grady, Lauren;
- Zech, Michael;
- Srivastava, Siddharth;
- Sweetser, David A.;
- Dincer, Yasemin;
- Mall, Volker;
- Winkelmann, Juliane;
- Behrends, Christian;
- Darras, Basil T.;
- Graham, Robert J.;
- Jayakar, Parul;
- Byrne, Barry;
- Bar‐Aluma, Bat El;
- Haberman, Yael;
- Szeinberg, Amir
Publication type:
Article
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
By:
- Itai, Toshiyuki;
- Hamanaka, Kohei;
- Sasaki, Kazunori;
- Wagner, Matias;
- Kotzaeridou, Urania;
- Brösse, Ines;
- Ries, Markus;
- Kobayashi, Yu;
- Tohyama, Jun;
- Kato, Mitsuhiro;
- Ong, Winnie P.;
- Chew, Hui B.;
- Rethanavelu, Kavitha;
- Ranza, Emmanuelle;
- Blanc, Xavier;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Fujita, Atsushi;
- Azuma, Yoshiteru;
- Koshimizu, Eriko
Publication type:
Article

Found: 3

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.