Results 111 to 120 of about 5,789 (161)

Nociceptive pain in late-onset Pompe disease: prevalence, distribution, and clinical correlates. [PDF]

J Neurol
Wenninger S, Arndt M, Mendelsohn DH, Wirner-Piotrowski C, Mijic M, Garcia-Angarita N, Gutschmidt K, Schmidt C, Winkler L, Gläser D, Knop KC, Spranger M, Klawonn F, Brauner LE, Schoser B.   +14 more
europepmc   +1 more source

Identification of compounds that repress DUX4 expression in facioscapulohumeral muscular dystrophy. [PDF]

Sci Rep
Chang N, Moore HP, Himeda CL, O'Brien TE, Thomas W, Roshanravan B, Jones TI, Jones PL.   +7 more
europepmc   +1 more source

Development of a Visual Faces Scale for Adults with Hearing Loss: The Facial Scale of Hearing Difficulty. [PDF]

J Am Acad Audiol
Gaeta L.
europepmc   +1 more source

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies. [PDF]

Nat Commun
Yeow D, Reis ALM, Stevanovski I, Njo N, Rudaks LI, Grosz BR, Sy JS, Kemp L, Chintalaphani SR, Chin M, Stoll M, Zhu D, Liang C, Morris KA, Hannaford A, Shandiz E, Ahmad KE, El-Wahsh S, Reddel SW, Boland-Freitas R, Ghaoui R, Barnes S, Sturm J, Willard A, Jasinarachchi M, Hawke S, Simon NG, Worgan L, Manser D, Tchan M, Griffith NC, Davis RL, Fahey MC, Sue CM, McCombe PA, Ng K, Kennerson ML, Cheong PL, Kumar KR, Deveson IW.   +39 more
europepmc   +1 more source

An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation. [PDF]

J Neuromuscul Dis
Stinissen L, van de Camp SAJH, Simon B, Goldberg L, van Engelen BGM, Bevelander KE, Oortwijn W, Voermans NC, RYR1-RD patient survey study group.   +8 more
europepmc   +1 more source

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

Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology. [PDF]

Dis Model Mech
Hiramuki Y, Himeda CL, Jones PL, Jones TI.   +3 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD. [PDF]

Ann Clin Transl Neurol
Bayazit MB, Nagaraj CK, Newell JS, Nguyen KT, Rima XY, Doon-Ralls J, Reátegui E, Statland JM, Tawil R, Flanigan KM, Harper SQ, Saad NY.   +11 more
europepmc   +1 more source

Hypothalamic-pituitary deficiency after radiation in childhood cancer survivors is associated with rare variants in TNS2. [PDF]

J Clin Endocrinol Metab
Yoshida T, Wang F, Moon W, Mostoufi-Moab S, Wang H, Neupane A, Wang J, Sapkota Y, Wilson CL, Mirzaei S, Wang Z, Zhang J, Merchant TE, Armstrong GT, Ness KK, Hudson MM, Yasui Y, Delaney A.   +17 more
europepmc   +1 more source

Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHD. [PDF]

Nucleic Acids Res
Malecova B, Sala D, Melikian GM, Johns R, Erdogan G, Hartmann M, Jordan M, Arias JD, Bhattacharya A, Meng Q, Dansereau O, Beppler SW, Doppalapudi VR, Huang H, Flanagan WM, Levin AA.   +15 more
europepmc   +1 more source