Results 151 to 160 of about 5,041 (194)

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
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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

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

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

<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

The recent clinical trial of losmapimod for the treatment of facioscapulohumeral muscular dystrophy. [PDF]

Neuromuscul Disord
Bloch RJ, Traficante M, Mariot V, Dumonceaux J.   +3 more
europepmc   +1 more source

Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy

Heher P, Pfeiffer-Vogl J, Ganassi M, Fulea R, McGuire L, Engquist EN, Tyszkiewicz M, Prueller J, Grillari J, Tasca G, Banerji CR, Zammit PS.   +11 more
europepmc   +1 more source

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey. [PDF]

Acta Myol
Mancuso M, Lamperti C, Musumeci O.
europepmc   +1 more source

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Methylation of the FSHD Syndrome-Linked Subtelomeric Repeat in Normal and FSHD Cell Cultures and Tissues

Molecular Genetics and Metabolism, 2001
Facioscapulohumeral muscular dystrophy (FSHD) has an unusual molecular etiology. In a putatively heterochromatic subtelomeric region of each chromosome 4 homologue (4q35), unaffected individuals have 11 to about 95 tandem copies of a complex 3.3-kb repeat (D4Z4). Most FSHD patients have less than 10 copies at one allelic 4q35. This has been proposed to
Baodong Sun, Melanie Ehrlich, Baodong Sun   +2 more
exaly   +3 more sources