U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 86

1.
Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
Nicolas N. Madigan, Michael J. Polzin, Gaofeng Cui, Teerin Liewluck, Mohammad H. Alsharabati, Christopher J. Klein, Anthony J. Windebank, Georges Mer, Margherita Milone
Acta Neuropathol Commun. 2021; 9: 79. Published online 2021 Apr 29. doi: 10.1186/s40478-021-01168-9
PMCID:
PMC8082902
ArticlePDF–3.3M
2.
Late-Onset Pompe Disease with Nemaline Bodies
E. Frezza, C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, R. Massa
Case Rep Neurol Med. 2018; 2018: 4127213. Published online 2018 Sep 27. doi: 10.1155/2018/4127213
PMCID:
PMC6180937
ArticlePDF–2.5M
3.
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods
Sandra Donkervoort, Sophelia H.S. Chan, Leslie H. Hayes, Nathaniel Bradley, David Nguyen, Meganne E. Leach, Payam Mohassel, Ying Hu, Mathula Thangarajh, Diana Bharucha-Goebel, Amanda Kan, Ronnie S.L. Ho, Christine A. Reyes, Jessica Nance, Steven A. Moore, A. Reghan Foley, Carsten G. Bönnemann
Neuromuscul Disord. Author manuscript; available in PMC 2018 Apr 26.
Published in final edited form as: Neuromuscul Disord. 2017 Jun; 27(6): 531–536. Published online 2017 Mar 2. doi: 10.1016/j.nmd.2017.02.012
PMCID:
PMC5918412
ArticlePDF–722K
4.
Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
Elena Zvaritch, Natasha Kraeva, Eric Bombardier, Robert A. McCloy, Frederic Depreux, Douglas Holmyard, Alexander Kraev, Christine E. Seidman, J. G. Seidman, A. Russell Tupling, David H. MacLennan
Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51): 21813–21818. Published online 2009 Dec 3. doi: 10.1073/pnas.0912126106
PMCID:
PMC2788482
ArticlePDF–2.0M
5.
Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqian
Acta Neurol Belg. 2024; 124(1): 91–99. Published online 2023 Jul 31. doi: 10.1007/s13760-023-02333-8
PMCID:
PMC10874337
ArticlePDF–933K
6.
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Katarina Pelin, Lydia Sagath, Johanna Lehtonen, Kirsi Kiiski, Olli Tynninen, Anders Paetau, Mridul Johari, Marco Savarese, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari
J Neuromuscul Dis. 2023; 10(5): 977–984. Prepublished online 2023 Jun 27. Published online 2023 Sep 8. doi: 10.3233/JND-230026
PMCID:
PMC10578209
ArticlePDF–431K
7.
ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of Nemaline Myopathy
Melanie Gartz, Margaret Haberman, Jessica Sutton, Rebecca A. Slick, Shawn M. Luttrell, David L. Mack, Michael W. Lawlor
Exp Cell Res. Author manuscript; available in PMC 2024 Mar 15.
Published in final edited form as: Exp Cell Res. 2023 Mar 15; 424(2): 113507. Published online 2023 Feb 14. doi: 10.1016/j.yexcr.2023.113507
PMCID:
PMC9993434
ArticlePDF–1.4M
8.
Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies
Stefan Nicolau, Aneesha Dasgupta, Surendra Dasari, M. Cristine Charlesworth, Kenneth L. Johnson, Akhilesh Pandey, Jason D. Doles, Margherita Milone
Acta Neuropathol Commun. 2023; 11: 20. Published online 2023 Jan 26. doi: 10.1186/s40478-023-01518-9
PMCID:
PMC9878979
ArticlePDF–8.4M
9.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero
Acta Neuropathol Commun. 2022; 10: 101. Published online 2022 Jul 9. doi: 10.1186/s40478-022-01400-0
PMCID:
PMC9271256
ArticlePDF–4.2M
10.
Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center
Xi Yin, Chuanqiang Pu, Zhenfu Wang, Ke Li, HuiFang Wang
Acta Neurol Belg. 2022; 122(3): 631–639. Published online 2021 Mar 19. doi: 10.1007/s13760-020-01542-9
PMCID:
PMC9170660
ArticlePDF–1.1M
11.
Proteomic profiling of sporadic late‐onset nemaline myopathy
Elie Naddaf, Surendra Dasari, Duygu Selcen, M. Cristine Charlesworth, Kenneth L. Johnson, Michelle L. Mauermann, Taxiarchis Kourelis
Ann Clin Transl Neurol. 2022 Mar; 9(3): 391–402. Published online 2022 Feb 20. doi: 10.1002/acn3.51527
PMCID:
PMC8935314
ArticlePDF–684K
12.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances
J Med Genet. 2021 Sep; 58(9): 602–608. Published online 2020 Sep 29. doi: 10.1136/jmedgenet-2019-106714
PMCID:
PMC8394741
ArticlePDF–991K
13.
ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy
Rocío N Villar-Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A. Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yüksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xavière Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B. Romero, Alan H. Beggs, Laurent Servais, Mireille Cossée, Montse Olivé, Johann Böhm, Isabelle Duband-Goulet, Ana Ferreiro
Ann Neurol. Author manuscript; available in PMC 2021 Feb 1.
Published in final edited form as: Ann Neurol. 2020 Feb; 87(2): 217–232. Published online 2019 Dec 27. doi: 10.1002/ana.25660
PMCID:
PMC6980348
ArticlePDF–2.4M
14.
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone
Neuromuscul Disord. Author manuscript; available in PMC 2019 Oct 24.
Published in final edited form as: Neuromuscul Disord. 2019 May; 29(5): 388–391. Published online 2019 Mar 2. doi: 10.1016/j.nmd.2019.02.012
PMCID:
PMC6812538
ArticlePDF–778K
15.
Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse
Jennifer A Tinklenberg, Emily M Siebers, Margaret J Beatka, Brittany A Fickau, Samuel Ayres, Hui Meng, Lin Yang, Pippa Simpson, Henk L Granzier, Michael W Lawlor
J Neuropathol Exp Neurol. 2019 Feb; 78(2): 130–139. Published online 2018 Dec 29. doi: 10.1093/jnen/nly120
PMCID:
PMC6804412
ArticlePDF–1.5M
16.
Nemaline myopathies: a current view
Caroline A. Sewry, Jenni M. Laitila, Carina Wallgren-Pettersson
J Muscle Res Cell Motil. 2019; 40(2): 111–126. Published online 2019 Jun 21. doi: 10.1007/s10974-019-09519-9
PMCID:
PMC6726674
ArticlePDF–1.3M
17.
TNNT1 nemaline myopathy: natural history and therapeutic frontier
Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W Lawlor, John T Gray, Karlla W Brigatti, J -P Jin, Kevin A Strauss
Hum Mol Genet. 2018 Sep 15; 27(18): 3272–3282. Published online 2018 Jun 20. doi: 10.1093/hmg/ddy233
PMCID:
PMC6121192
ArticlePDF–1.3M
18.
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson
Acta Neuropathol Commun. 2018; 6: 40. Published online 2018 May 30. doi: 10.1186/s40478-018-0546-9
PMCID:
PMC5977763
ArticlePDF–2.1M
19.
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice
Jennifer A Tinklenberg, Emily M Siebers, Margaret J Beatka, Hui Meng, Lin Yang, Zizhao Zhang, Jacob A Ross, Julien Ochala, Carl Morris, Jane M Owens, Nigel G Laing, Kristen J Nowak, Michael W Lawlor
Hum Mol Genet. 2018 Feb 15; 27(4): 638–648. Published online 2017 Dec 23. doi: 10.1093/hmg/ddx431
PMCID:
PMC5886278
ArticlePDF–857K
20.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
Sarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Beryl B Cummings, Leigh B Waddell, Kristi J Jones, Christopher Troedson, Annapurna Sudarsanam, Benjamin M Nash, Gregory B Peters, Elizabeth M Algar, Daniel G MacArthur, Kathryn N North, Susan Brammah, Amanda Charlton, Nigel G Laing, Meredith J Wilson, Mark R Davis, Sandra T Cooper
Hum Mutat. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: Hum Mutat. 2018 Mar; 39(3): 383–388. Published online 2018 Jan 13. doi: 10.1002/humu.23385
PMCID:
PMC5805634
ArticlePDF–393K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center