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Select item 42061551.

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Pushpa Narayanaswami, Michael Weiss, Duygu Selcen, William David, Elizabeth Raynor, Gregory Carter, Matthew Wicklund, Richard J. Barohn, Erik Ensrud, Robert C. Griggs, Gary Gronseth, Anthony A. Amato

Neurology. 2014 Oct 14; 83(16): 1453–1463. doi: 10.1212/WNL.0000000000000892

PMCID:: PMC4206155

Abstract Article PDF–658K

Select item 52581102.

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D. Mathews, Steven A. Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N. North

Neuromuscul Disord. Author manuscript; available in PMC 2017 Jan 23.

Published in final edited form as: Neuromuscul Disord. 2014 Apr; 24(4): 289–311. Published online 2014 Jan 9. doi: 10.1016/j.nmd.2013.12.011

PMCID:: PMC5258110

Abstract Article PDF–2.1M

Select item 105988993.

One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle

Christina A. Pacak, Silveli Suzuki-Hatano, Fatemeh Khadir, Audrey L. Daugherty, Mughil Sriramvenugopal, Bennett J. Gosiker, Peter B. Kang, William Todd Cade

J Transl Med. 2023; 21: 748. Published online 2023 Oct 24. doi: 10.1186/s12967-023-04626-1

PMCID:: PMC10598899

Abstract Article PDF–4.1M

Select item 105538414.

The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs

Danielle C. Hamm, Ellen M. Paatela, Sean R. Bennett, Chao-Jen Wong, Amy E. Campbell, Cynthia L. Wladyka, Andrew A. Smith, Sujatha Jagannathan, Andrew C. Hsieh, Stephen J. Tapscott

PLoS Biol. 2023 Sep; 21(9): e3002317. Published online 2023 Sep 25. doi: 10.1371/journal.pbio.3002317

PMCID:: PMC10553841

Abstract Article PDF–3.3M

Select item 105924545.

Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression

Amy E. Campbell, Michael C. Dyle, Roberto Albanese, Tyler Matheny, Kavitha Sudheendran, Michael A. Cortázar, Thomas Forman, Rui Fu, Austin E. Gillen, Marvin H. Caruthers, Stephen N. Floor, Lorenzo Calviello, Sujatha Jagannathan

Cell Rep. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Cell Rep. 2023 Jun 27; 42(6): 112642. Published online 2023 Jun 13. doi: 10.1016/j.celrep.2023.112642

PMCID:: PMC10592454

Abstract Article PDF–1.9M

Select item 105918806.

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini

Cell Rep. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113120. Published online 2023 Sep 12. doi: 10.1016/j.celrep.2023.113120

PMCID:: PMC10591880

Abstract Article PDF–2.1M

Select item 105900027.

A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

Xinzhuang Yang, Dingding Zhang, Si Shen, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan, Jianxiong Shen, Yicheng Zhu, Depeng Wang, Liying Cui, Lin Chen, Changhe Shi, Yi Dai

BMC Med Genomics. 2023; 16: 253. Published online 2023 Oct 20. doi: 10.1186/s12920-023-01586-9

PMCID:: PMC10590002

Abstract Article PDF–2.1M

Select item 105857398.

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Ciryl Gitiaux, Christine Barnerias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François-Jerome Authier, Chiara Fiorillo, Frederic Relaix, Edoardo Malfatti

Acta Neuropathol Commun. 2023; 11: 167. Published online 2023 Oct 19. doi: 10.1186/s40478-023-01657-z

PMCID:: PMC10585739

Abstract Article PDF–6.5M

Select item 105794799.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito

J Med Genet. 2023 Oct; 60(10): 965–973. Published online 2023 May 16. doi: 10.1136/jmg-2022-109132

PMCID:: PMC10579479

Abstract Article PDF–3.1M

Select item 1057831810.

DUX4 expression in cancer induces a metastable early embryonic totipotent program

Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvère M. van der Maarel, Stephen J. Tapscott

Cell Rep. Author manuscript; available in PMC 2023 Oct 16.

Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113114. Published online 2023 Sep 8. doi: 10.1016/j.celrep.2023.113114

PMCID:: PMC10578318

Abstract Article PDF–2.0M

Select item 1057823411.

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development

Jacqueline Glascock, Basil T. Darras, Thomas O. Crawford, Charlotte J. Sumner, Stephen J. Kolb, Christine DiDonato, Bakri Elsheikh, Kelly Howell, Wildon Farwell, Marta Valente, Marco Petrillo, Jessica Tingey, Jill Jarecki

J Neuromuscul Dis. 2023; 10(5): 937–954. Prepublished online 2023 Jul 12. Published online 2023 Sep 8. doi: 10.3233/JND-230054

PMCID:: PMC10578234

Abstract Article PDF–361K

Select item 1057756212.

Oculopharyngeal muscular dystrophy mutations link the RNA‐binding protein HNRNPQ to autophagosome biogenesis

Hasan Ishtayeh, Margarita Galves, Tania T. Barnatan, Yevgeny Berdichevsky, Fatima Amer‐Sarsour, Metsada Pasmanik‐Chor, Itzhak Braverman, Sergiu C. Blumen, Avraham Ashkenazi

Aging Cell. 2023 Oct; 22(10): e13949. Published online 2023 Aug 9. doi: 10.1111/acel.13949

PMCID:: PMC10577562

Abstract Article PDF–20M

Select item 1057254513.

Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

Leoni S. Erbe, Sabine Hoffjan, Sören Janßen, Moritz Kneifel, Karsten Krause, Wanda M. Gerding, Kristina Döring, Anne-Katrin Güttsches, Andreas Roos, Elena Buena Atienza, Caspar Gross, Thomas Lücke, Hoa Huu Phuc Nguyen, Matthias Vorgerd, Cornelia Köhler

Int J Mol Sci. 2023 Oct; 24(19): 14716. Published online 2023 Sep 28. doi: 10.3390/ijms241914716

PMCID:: PMC10572545

Abstract Article PDF–1.8M

Select item 1057241114.

Enhancing Antisense Oligonucleotide-Based Therapeutic Delivery with DG9, a Versatile Cell-Penetrating Peptide

Umme Sabrina Haque, Toshifumi Yokota

Cells. 2023 Oct; 12(19): 2395. Published online 2023 Oct 2. doi: 10.3390/cells12192395

PMCID:: PMC10572411

Abstract Article PDF–2.2M

Select item 1056597715.

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz

Orphanet J Rare Dis. 2023; 18: 315. Published online 2023 Oct 10. doi: 10.1186/s13023-023-02873-5

PMCID:: PMC10565977

Abstract Article PDF–2.1M

Select item 1056406716.

The New Frontier of Genetically Targeted Therapies for Muscle Disease

Peter B. Kang

Continuum (Minneap Minn) 2013 Dec; 19(6 Muscle Disease): 1698–1702. Published online 2013 Dec. doi: 10.1212/01.CON.0000440666.79792.84

PMCID:: PMC10564067

Abstract Article PDF–122K

Select item 1056246917.

Resolution of fibrosis in mdx dystrophic mouse after oral consumption of N-163 strain of Aureobasidium pullulans produced β-glucan

Senthilkumar Preethy, Yoshitsugu Aoki, Katsura Minegishi, Masaru Iwasaki, Rajappa Senthilkumar, Samuel J. K. Abraham

Sci Rep. 2023; 13: 17008. Published online 2023 Oct 9. doi: 10.1038/s41598-023-44330-0

PMCID:: PMC10562469

Abstract Article PDF–1.8M

Select item 1064700618.

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde

Ann Clin Transl Neurol. 2023 Nov; 10(11): 2092–2104. Published online 2023 Sep 8. doi: 10.1002/acn3.51896

PMCID:: PMC10647006

Abstract Article PDF–1.7M

Select item 1060296719.

Modulatory role of RNA helicases in MBNL-dependent alternative splicing regulation

Katarzyna Taylor, Agnieszka Piasecka, Arkadiusz Kajdasz, Aleksandra Brzęk, Micaela Polay Espinoza, Cyril F. Bourgeois, Artur Jankowski, Małgorzata Borowiak, Katarzyna D. Raczyńska, Łukasz J. Sznajder, Krzysztof Sobczak

Cell Mol Life Sci. 2023 Nov; 80(11): 335. Published online 2023 Oct 26. doi: 10.1007/s00018-023-04927-0

PMCID:: PMC10602967

Abstract Article PDF–2.1M

Select item 1060496120.

CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy

Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, Evelyne Gicquel, Grégory Rouby, Isabelle Richard, Romain Fragnoud

Cells. 2023 Oct; 12(20): 2444. Published online 2023 Oct 12. doi: 10.3390/cells12202444

PMCID:: PMC10604961

Abstract Article PDF–2.8M

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PMC Articles for MedGen (Select 1830095) (500)
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hypoxia-inducible factor 3-alpha isoform X9 [Homo sapiens]
hypoxia-inducible factor 3-alpha isoform X9 [Homo sapiens]
gi|1034608954|ref|XP_016882627.1|

Protein
Coriell GM12760
Coriell GM12760

biosample
SRS000077 (1)
BioSample
GM12248 male unaffected International hapmap project - ceph (plate i) utah resid...
GM12248 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

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