Results 161 to 170 of about 7,807 (220)

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

Next-Generation Sequencing Analysis of MiRNA Expression in Control and FSHD Myogenesis

, 2014
Veronica Colangelo, Stéphanie François, Giulia Soldà, Raffaella Picco, Francesca Roma, Enrico Ginelli, Raffaella Meneveri   +6 more
openalex   +2 more sources

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy [PDF]

, 2014
Jincy Winston, Laura Duerden, Matthew Mort, Ian M. Frayling, Mark T. Rogers, Meena Upadhyaya   +5 more
openalex   +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

All-in-one vectors for epigenetic CRISPR inhibition of <i>DUX4-fl</i> in facioscapulohumeral muscular dystrophy. [PDF]

Mol Ther Methods Clin Dev
Himeda CL, Jones TI, Jones PL.
europepmc   +1 more source

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

, 2019
Remko Goossens, Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Iris M. Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C. Hoeben, Stephen J. Tapscott, Niels Geijsen, Manuel A.F.V. Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M. van der Maarel   +15 more
openalex   +2 more sources

<i>DUX4</i> reduction and muscle function improvement by subcutaneous delivery of gapmer antisense oligonucleotides. [PDF]

Mol Ther Nucleic Acids
Zhang A, Lim KRQ, Chen Z, Yokota T, Chen YW.   +4 more
europepmc   +1 more source

Myoblasts from affected and non‐affected FSHD muscles exhibit morphological differentiation defects [PDF]

, 2008
Marietta Barro, Gilles Carnac, Sébastien Flavier, Jacques Mercier, Yegor Vassetzky, Dalila Laoudj‐Chenivesse   +5 more
openalex   +1 more source

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics. [PDF]

Clin Transl Med
Liu W, Chen H, Jiao J, Zhang Q, Liang D, Huo H, Ji X, Huang M, Hou X, Cao Y, Wu S, Wang Y, Zhang J, Xu Z, Hu P.   +14 more
europepmc   +1 more source

Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review. [PDF]

AIMS Neurosci
Ansari U, Nadora D, Ong L, Sedighi R, Tabaie E, Ansari Z, Alam M, Syed B, Amani N, Preiss-Farzanegan S.   +9 more
europepmc   +1 more source