Results 171 to 180 of about 9,445 (236)

Relationship of DUX4 and target gene expression in FSHD myocytes

, 2021
Jonathan Chau, Xiangduo Kong, Nam Viet Nguyen, Katherine Williams, Miya Ball, Rabi Tawil, Tohru Kiyono, A Mortazavi, Kyoko Yokomori   +8 more
openalex   +1 more source

The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up

Clinical Neurophysiology
S. Vincenten, N. Voermans, D. Cameron, Baziel G. M. van Engelen, N. van Alfen, K. Mul   +5 more
semanticscholar   +1 more source

DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy. [PDF]

Skelet Muscle
Belayew A, Rosa AL, Zammit PS.
europepmc   +1 more source

P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

, 2013
Maxime Ferreboeuf, Virginie Mariot, B. Bessières, Alexandre Vasiljevic, Tania Attié‐Bitach, Sophie Collardeau‐Frachon, Stéphane Roche, Frédérique Magdinier, Jérôme D. Robin, Philippe Rameau, Sandra Whalen, Sabrina Sacconi, Vincent Mouly, Gillian Butler‐Browne, Julie Dumonceaux   +14 more
openalex   +2 more sources

Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Heatwole CR, Luebbe E, Hamel J, Mongiovi PC, Ciafaloni E, Dilek N, Martens WB, Weber DR, Rashid H, Allen McKeown J, Smith CH, Howell S, Rosero SZ, Eichinger K, Baker LS, Dekdebrun JM, Hilbert JE, Varma A, Thornton CA, McDermott MP, Moxley RT.   +20 more
europepmc   +1 more source

Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD).

Journal of Molecular Diagnostics, 2021
A. Stence, Jon Thomason, J. Pruessner, R. Sompallae, Anthony N. Snow, Deqin Ma, S. Moore, A. Bossler   +7 more
semanticscholar   +1 more source

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

, 2014
Weihua Zeng, Yen-Yun Chen, Daniel A. Newkirk, Beibei Wu, Judit Balog, Xiangduo Kong, Alexander R. Ball, Simona Zanotti, Rabi Tawil, Naohiro Hashimoto, A Mortazavi, Silvère M. van der Maarel, Kyoko Yokomori   +12 more
openalex   +1 more source

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry. [PDF]

Orphanet J Rare Dis
Sanson B, Slioui A, Garcia J, Klouvi L, Lejeune J, Stalens C, Guien C, Rabarimeriarijaona S, Bernard R, Nectoux J, Attarian S, Bédat-Millet AL, Bouhour F, Boyer FC, Chanson JB, Choumert A, Cintas P, De La Cruz E, Féasson L, Fournier M, Ghorab K, Jacquin-Piques A, Laforêt P, Magot A, Michaud M, Noury JB, Solé G, Spinazzi M, Stojkovic T, Tard C, Villa L, Béroud C, Sacconi S, French FSHD registry collaboration group.   +33 more
europepmc   +1 more source

Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases. [PDF]

NEJM AI
Ruth PS, Uhlrich SD, de Monts C, Falisse A, Muccini J, Covitz S, Vogt-Domke S, Day J, Duong T, Delp SL.   +9 more
europepmc   +1 more source

DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation

, 2020
Christopher R. S. Banerji, Maryna Panamarova, Peter S. Zammit   +2 more
openalex   +1 more source