PMC Links for Books (Select 1462556) - PMC

Select item 71326311.

AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy

Hiroya Ono, Naoki Suzuki, Shin-ichiro Kanno, Genri Kawahara, Rumiko Izumi, Toshiaki Takahashi, Yasuo Kitajima, Shion Osana, Naoko Nakamura, Tetsuya Akiyama, Kensuke Ikeda, Tomomi Shijo, Shio Mitsuzawa, Ryoichi Nagatomi, Nobukazu Araki, Akira Yasui, Hitoshi Warita, Yukiko K. Hayashi, Katsuya Miyake, Masashi Aoki

Mol Ther. 2020 Apr 8; 28(4): 1133–1153. Published online 2020 Feb 12. doi: 10.1016/j.ymthe.2020.02.006

PMCID:: PMC7132631

Article PDF–4.8M

Select item 64692572.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

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

Ann Clin Transl Neurol. 2019 Apr; 6(4): 642–654. Published online 2019 Mar 3. doi: 10.1002/acn3.738

PMCID:: PMC6469257

Article PDF–1.4M

Select item 61276373.

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit

Sen Chandra Sreetama, Goutam Chandra, Jack H. Van der Meulen, Mohammad Mahad Ahmad, Peter Suzuki, Shivaprasad Bhuvanendran, Kanneboyina Nagaraju, Eric P. Hoffman, Jyoti K. Jaiswal

Mol Ther. 2018 Sep 5; 26(9): 2231–2242. Published online 2018 Aug 27. doi: 10.1016/j.ymthe.2018.07.021

PMCID:: PMC6127637

Article PDF–3.2M

Select item 49948754.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium

Neurol Genet. 2016 Aug; 2(4): e89. Published online 2016 Aug 4. doi: 10.1212/NXG.0000000000000089

PMCID:: PMC4994875

Article PDF–512K

Select item 44503515.

Reliability of the Adult Myopathy Assessment Tool in Individuals with Myositis

Michael O. Harris-Love, Galen Joe, Todd E. Davenport, Deloris Koziol, Kristen Abbett Rose, Joseph A. Shrader, Olavo M. Vasconcelos, Beverly McElroy, Marinos C. Dalakas

Arthritis Care Res (Hoboken) Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Arthritis Care Res (Hoboken). 2015 Apr; 67(4): 563–570. doi: 10.1002/acr.22473

PMCID:: PMC4450351

Article PDF–411K

Select item 36170006.

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

Maggie C Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kress, Clemens Müller-Reible, Matthias Vorgerd, Peter Urban, Bertold Schrank, Marcus Deschauer, Beate Schlotter-Weigel, Ralf Kohnen, Hanns Lochmüller

Orphanet J Rare Dis. 2013; 8: 26. Published online 2013 Feb 14. doi: 10.1186/1750-1172-8-26

PMCID:: PMC3617000

Article PDF–2.9M

Select item 35951487.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Toshiaki Takahashi, Masashi Aoki, Naoki Suzuki, Maki Tateyama, Chikako Yaginuma, Hitomi Sato, Miho Hayasaka, Hitomi Sugawara, Mariko Ito, Emi Abe-Kondo, Naoko Shimakura, Tohru Ibi, Satoshi Kuru, Tadashi Wakayama, Gen Sobue, Naoki Fujii, Toshio Saito, Tsuyoshi Matsumura, Itaru Funakawa, Eiichiro Mukai, Toru Kawanami, Mitsuya Morita, Mineo Yamazaki, Takashi Hasegawa, Jun Shimizu, Shoji Tsuji, Shigeki Kuzuhara, Hiroyasu Tanaka, Masaru Yoshioka, Hidehiko Konno, Hiroshi Onodera, Yasuto Itoyama

J Neurol Neurosurg Psychiatry. 2013 Apr; 84(4): 433–440. Published online 2012 Dec 15. doi: 10.1136/jnnp-2011-301339

PMCID:: PMC3595148

Article PDF–215K

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