Results 121 to 130 of about 57,206 (164)

Effects of a Combined Nutritional and Physical Training Program Approach in a Case of Facioscapulohumeral Dystrophy: A One-Year Follow-Up. [PDF]

Case Rep Med
Quintiero V, Crisafulli O, Lacetera J, Bottoni G, Negro M, Tupler R, Lavaselli E, D'Antona G.   +7 more
europepmc   +1 more source

Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy. [PDF]

J Pers Med, 2020
Heier CR, Zhang A, Nguyen NY, Tully CB, Panigrahi A, Gordish-Dressman H, Pandey SN, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith EC, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Mah JK, Fiorillo AA, Chen YW, Cooperative International Neuromuscular Research Group Cinrg Investigators.   +21 more
europepmc   +1 more source

Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study. [PDF]

Neurology
Dijkstra JN, Boon HTM, Koekkoek A, Goselink RJM, Pelsma MM, Van Alfen N, Houwen-van Opstal SLS, Van Engelen BGM, Voermans NC, Erasmus CE.   +9 more
europepmc   +1 more source

Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy. [PDF]

Int J Environ Res Public Health
Crisafulli O, Grattarola L, Bottoni G, Lacetera J, Lavaselli E, Beretta-Piccoli M, Tupler R, Soldini E, D'Antona G.   +8 more
europepmc   +1 more source

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. [PDF]

Eur J Hum Genet
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F.   +39 more
europepmc   +1 more source

Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study. [PDF]

Health Sci Rep
Crisafulli O, Baptista R, Drid P, Grattarola L, Bottoni G, Lavaselli E, Negro M, Tupler R, Quintiero V, D'Antona G.   +9 more
europepmc   +1 more source

Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy. [PDF]

Eur J Appl Physiol
Crisafulli O, Bottoni G, Lacetera J, Fassio F, Grattarola L, Lavaselli E, Giovanetti G, Tupler R, Negro M, D'Antona G.   +9 more
europepmc   +1 more source

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. [PDF]

Brain
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM.   +22 more
europepmc   +1 more source

Ophthalmological findings in facioscapulohumeral dystrophy. [PDF]

Brain Commun, 2019
Goselink RJM, Schreur V, van Kernebeek CR, Padberg GW, van der Maarel SM, van Engelen BGM, Erasmus CE, Theelen T.   +7 more
europepmc   +1 more source

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function. [PDF]

Antioxidants (Basel)
Moriggi M, Ruggiero L, Torretta E, Zoppi D, Arosio B, Ferri E, Castegna A, Fiorillo C, Gelfi C, Capitanio D.   +9 more
europepmc   +1 more source