PMC Articles for MedGen (Select 355637) - PMC

Select item 101877201.

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis

Ann Clin Transl Neurol. 2023 May; 10(5): 686–695. Published online 2023 Apr 7. doi: 10.1002/acn3.51760

PMCID:: PMC10187720

Article PDF–542K

Select item 101754332.

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boel De Paepe, Sami J. Barmada, James Shorter, Jan L. De Bleecker, Elke Bogaert, Bart Dermaut

Acta Neuropathol. 2023; 145(6): 793–814. Published online 2023 Mar 31. doi: 10.1007/s00401-023-02565-1

PMCID:: PMC10175433

Article PDF–6.1M

Select item 95393733.

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Margarita Chrysanthou‐Piterou, Salla Rusanen, Marco Savarese, Peter Hackman, Bjarne Udd

Ann Clin Transl Neurol. 2022 Oct; 9(10): 1660–1667. Published online 2022 Sep 22. doi: 10.1002/acn3.51665

PMCID:: PMC9539373

Article PDF–6.5M

Select item 77834274.

Panorama of the distal myopathies

Marco Savarese, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Mridul Johari, Salla Rusanen, Peter Hackman, Bjarne Udd

Acta Myol. 2020 Dec; 39(4): 245–265. Published online 2020 Dec 1. doi: 10.36185/2532-1900-028

PMCID:: PMC7783427

Article PDF–268K

Select item 72735325.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Jianwen Deng, Jiaxi Yu, Pidong Li, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, Wei Zhang, He Lv, Zhiying Xie, LingChao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Qingqing Wang, Jing Liu, Min Zhu, Xueyu Guo, Yanan Su, Yu Liang, Fan Liang, Tomohiro Hayashi, Meiko Hashimoto Maeda, Tatsuro Sato, Shigehisa Ura, Yasushi Oya, Masashi Ogasawara, Aritoshi Iida, Ichizo Nishino, Chang Zhou, Chuanzhu Yan, Yun Yuan, Daojun Hong, Zhaoxia Wang

Am J Hum Genet. 2020 Jun 4; 106(6): 793–804. Published online 2020 May 14. doi: 10.1016/j.ajhg.2020.04.011

PMCID:: PMC7273532

Article PDF–2.2M

Select item 63901146.

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

SAEED A. BOHLEGA, SARAH ALFAWAZ, HUSSAM ABOU-AL-SHAAR, HINDI N. AL-HINDI, HATEM N. MURAD, MOHAMED S. BOHLEGA, BRIAN F. MEYER, DOROTA MONIES

Acta Myol. 2018 Sep; 37(3): 221–226. Published online 2018 Sep 1.

PMCID:: PMC6390114

Article PDF–514K

Select item 59906857.

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

Kitae Kim, Hyung Jun Park, Jung Hwan Lee, Jiman Hong, Suk-Won Ahn, Young-Chul Choi

Yonsei Med J. 2018 Jul 1; 59(5): 698–701. Published online 2018 Jun 1. doi: 10.3349/ymj.2018.59.5.698

PMCID:: PMC5990685

Article PDF–1.0M

Select item 47760898.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd

Neurology. 2016 Jan 26; 86(4): 391–398. doi: 10.1212/WNL.0000000000002324

Correction in:: Neurology. 2016 Mar 15; 86(11): 1077.

PMCID:: PMC4776089

Article PDF–910K

Select item 45530329.

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Robert C. Bucelli, Khalid Arhzaouy, Alan Pestronk, Sara K. Pittman, Luisa Rojas, Carolyn M. Sue, Anni Evilä, Peter Hackman, Bjarne Udd, Matthew B. Harms, Conrad C. Weihl

Neurology. 2015 Aug 25; 85(8): 665–674. doi: 10.1212/WNL.0000000000001864

PMCID:: PMC4553032

Article PDF–1.0M

Select item 394968910.

Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy

Mark Screen, Olayinka Raheem, Jeanette Holmlund-Hampf, Per Harald Jonson, Sanna Huovinen, Peter Hackman, Bjarne Udd

PLoS One. 2014; 9(3): e90819. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090819

PMCID:: PMC3949689

Article PDF–1.4M

Select item 337767611.

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1

Yan Lu, Xingang Li, Min Wang, Xin Li, Feng Zhang, Yun Li, Meng Zhang, Yuwei Da, Jun Yu, Jianping Jia

PLoS One. 2012; 7(6): e39288. Published online 2012 Jun 18. doi: 10.1371/journal.pone.0039288

PMCID:: PMC3377676

Article PDF–697K

Select item 246739112.

Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Virginia. E. Kimonis, Sarju G. Mehta, Erin C. Fulchiero, Dana Thomasova, Marzia Pasquali, Kym Boycott, Edward G. Neilan, Alex Kartashov, Mark S. Forman, Stuart Tucker, Katerina Kimonis, Steven Mumm, Michael P. Whyte, Charles D. Smith, Giles D. J. Watts

Am J Med Genet A. Author manuscript; available in PMC 2008 Jul 15.

Published in final edited form as: Am J Med Genet A. 2008 Mar 15; 146A(6): 745–757. doi: 10.1002/ajmg.a.31862

PMCID:: PMC2467391

Article PDF–2.0M

Select item 207756313.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

P J Lamont, B Udd, F L Mastaglia, M de Visser, P Hedera, T Voit, L R Bridges, V Fabian, A Rozemuller, N G Laing

J Neurol Neurosurg Psychiatry. 2006 Feb; 77(2): 208–215. Published online 2005 Aug 15. doi: 10.1136/jnnp.2005.073825

PMCID:: PMC2077563

Article PDF–1.0M

Select item 173875114.

Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity

B M van der Sluijs, H J ter Laak, H Scheffer, S M van der Maarel, B G M van Engelen

J Neurol Neurosurg Psychiatry. 2004 Oct; 75(10): 1499–1501. doi: 10.1136/jnnp.2003.025072

PMCID:: PMC1738751

Summary PDF–69K

Select item 137694615.

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

H Haravuori, P Mäkelä-Bengs, B Udd, J Partanen, L Pulkkinen, H Somer, L Peltonen

Am J Hum Genet. 1998 Mar; 62(3): 620–626. doi: 10.1086/301752

PMCID:: PMC1376946

Summary PDF–264K

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