Results 101 to 110 of about 3,828 (168)

Elevated labile iron contributes to membrane repair deficits in facioscapulohumeral muscular dystrophy. [PDF]

iScience
Bittel AJ, Bhattacharya S, Okubamariam L, Chen YW.   +3 more
europepmc   +1 more source

Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy. [PDF]

Muscle Nerve
Loonen TGJ, Ten Harkel TC, Vincenten SCC, Horlings CGC, Beurskens CHG, Knuijt S, Padberg GWAM, van Engelen BGM, Maal TJJ, Mul K.   +9 more
europepmc   +1 more source

A toolkit for new facioscapulohumeral muscular dystrophy trial sites. [PDF]

J Neuromuscul Dis
Kools J, Korngut L, Petrillo Ballantyne J, Roozen I, de Haas R, Hill A, Evangelista T, Sansone VA, Roxburgh R, Lochmuller H, Statland J, Johnson NE, Voermans N.   +12 more
europepmc   +1 more source

Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Xu Y, Wang J, Chen Y, Zeng Y, Wang Q, Fan H, Feng S, Huang X, Luo X, Pan J, Wang J, Guo J, Li R, Lu B, Zhou C, Fei J, Xu Y.   +16 more
europepmc   +1 more source

Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature. [PDF]

Eur J Neurol
Tammam G, Villa L, Lemmers RJLF, Pini J, Slioui A, Bouchareychas L, David Y, Ioncea MB, Salviati L, Cavalli M, Ezaru A, Puma A, Verschuuren JJ, van der Maarel SM, Sacconi S.   +14 more
europepmc   +1 more source

Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience. [PDF]

J Patient Rep Outcomes
Ji W, Zhao Y, Kang Y, He Z, Xu L, Shukar S, Aikepaier A, Chen X, He Q, Zeng M, Lin Y, Lin M, Maimaiti H, Liu T, Li L, Wang Z, Fang Y.   +16 more
europepmc   +1 more source

DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD). [PDF]

Hum Genomics
Löwenstern T, Madritsch S, Horner D, Brait N, Güleray Lafci N, Schachner A, Gerykova Bujalkova M, Kałużewski T, Szyld P, Hengstschläger M, Dremsek P, Laccone F.   +11 more
europepmc   +1 more source

Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy. [PDF]

Hum Mol Genet
Sutliff NA, Chao E, Bennett SR, Nip Y, Lakhdari O, Canton DA, Zhu Y, Tapscott SJ.   +7 more
europepmc   +1 more source

Measuring health-related quality of life in facioscapulohumeral muscular dystrophy: a COSMIN systematic review and conceptual framework. [PDF]

Health Qual Life Outcomes
Carlton J, Powell P, Street J, Frances S, Williams C, Sutton A, Hewamadduma C.   +6 more
europepmc   +1 more source

Interplay between balance, gait kinematic and physical activity level in facioscapulohumeral muscular dystrophy. [PDF]

Sci Rep
Crisafulli O, Sozzi S, Quintiero V, Negro M, Tupler R, Ramat S, Stella GM, Schmid M, D'Antona G.   +8 more
europepmc   +1 more source