Results 61 to 70 of about 1,867 (154)

A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies

Muscle &Nerve, Volume 74, Issue 1, Page 198-206, July 2026.
ABSTRACT Introduction/Aims Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. Methods Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were ...
Katie O'Brien, Kay Nguo, Eppie M. Yiu, Ian R. Woodcock, Natassja Billich, Zoe E. Davidson   +5 more
wiley   +1 more source

"Small molecule screen to identify inhibitors of DUX4-mediated toxicity, therapeutic approach for FSHD" [PDF]

, 2012
Aim 1. To narrow our focus to the most promising direct DUX4 inhibitors. From the current 82 selected compounds which rescue DUX4 toxicity, we will narrow down the list to direct DUX4 inhibitors by means of additional secondary screens.
Bosnakovski, Darko
core  

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. [PDF]

, 2004
Contains fulltext : 58455.pdf (Publisher’s version ) (Closed access)BACKGROUND: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome ...
Figlewicz, D., Maarel, S.M. van der, Koningsbruggen, S. van, Lemmers, R.J.L.F., Rijkers, T., Deutekom, J.C.T. van, Deidda, G., Padberg, G.W.A.M., Hewitt, J.E., Geel, M. van, Frants, R.R.   +10 more
core   +1 more source

Growing up with FSHD. Characteristics of early-onset FSHD and childhood FSHD [PDF]

, 2020
Promotor : Engelen, B.G.M. van Co-promotores : Erasmus, C.E., Voermans, N.C.
openaire  

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, Volume 99, Issue 6, Page 1545-1554, June 2026.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN, Jeffrey Statland, Mazen Dimachkie, Constantine Farmakidis, Mamantha Pasnoor, Duaa Jabari, Omar Jawdat, Melissa Currence, Sandhya Sasidharan, Kiley Higgs, Michaela Walker, Rebecca Clay, Rabi Tawil, Johanna Hamel, Kate Eichinger, Leann Lewis, Samantha LoRusso, Bakri Elsheikh, W. David Arnold, Kristina Kelly, Marco Tellez, Leo H. Wang, Matthew K Preston, Catherine Kieu, Aliya Shabbir, Russell Butterfield, Clark Moser, Melissa McIntyre, Amelia Wilson, Sarah Moldt, Katheryn Wagner, Doris Leung, Andrea Jaworek, Nikia Stinson, Mary Yep, Perry Shieh, Christy Skura, Jennifer Huynh, Nicholas Johnson, Amanda Butler, Aileen Jones, Jodie Howell, Karlien Mul, Valeria Sansone, Elena Carraro, Valentina Franchino, Erica DiNatale, Michael Nani, Sabrina Sacconi, Luisa Villa, Giulia Tammam, Jeremy Garcia, Manuela Gambella, Sandray Ayari   +68 more
wiley   +1 more source

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics [PDF]

, 2016
Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of antisense phosphorodiamidate morpholino oligonucleotides to suppress DUX4 expression and ...
Clayton, Nicholas P., Zhang, Yuanfan, King, Oliver D., Emerson, Charles P. Jr., Chen, Jennifer C. J., Wentworth, Bruce M., Wagner, Kathryn R., Spencer, Carrie   +7 more
core   +2 more sources

Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele

Epigenetics & Chromatin, 2018
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) has an autosomal dominant pattern of inheritance and primarily affects skeletal muscle.
Premi Haynes, Karol Bomsztyk, Daniel G. Miller   +2 more
doaj   +1 more source

DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy. [PDF]

PLoS ONE, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35.2 from 11-100 copies to 1-10 copies.
Benjamin D Pope, Koji Tsumagari, Dana Battaglia, Tyrone Ryba, Ichiro Hiratani, Melanie Ehrlich, David M Gilbert   +6 more
doaj   +1 more source

Development and Validation of a Deep Learning‐Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1096-1102, June 2026.
ABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
T. G. J. Loonen, T. C. ten Harkel, S. C. C. Vincenten, C. G. C. Horlings, C. H. G. Beurskens, S. Knuijt, G. W. A. M. Padberg, B. G. M. van Engelen, T. J. J. Maal, K. Mul   +9 more
wiley   +1 more source

Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB2 (the FSHD-DB2 model). [PDF]

, 2013
Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB2 (the FSHD-DB2 model).
Lluís A. Belanche-Muñoz (497376), Félix F. González-Navarro (497375), Karen A. Silva-Colón (497377)   +2 more
core   +1 more source