Results 131 to 140 of about 5,041 (194)

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

Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies. [PDF]

Inflamm Regen
Abdelrehim FG, Sadek Z, Fahim SA, El-Ekiaby N, Abdelaziz AI, Fawzy IO.   +5 more
europepmc   +1 more source

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy. [PDF]

Cell Death Dis
Ganassi M, Strafella C, Savarese M, Heher P, Engquist EN, McGuire L, Johari M, De Nicola GF, Bigot A, Mouly V, Bortolani S, Torchia E, Monforte M, Megalizzi D, Sabino A, Ricci E, Giardina E, Zammit PS, Tasca G.   +18 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

Chemical inhibition of SUMOylation activates the FSHD locus. [PDF]

Sci Rep
Nordlinger A, Morin L, Andrieux A, Trani JP, Perrin P, Eudes N, Bigot A, Dejean A, Magdinier F.   +8 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

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

Response to: Disentangling Facioscapulohumeral Muscular Dystrophy Disability From Age and Comorbidities: A Call for Refined Stratification. [PDF]

Eur J Neurol
Teeselink S, Mul K.
europepmc   +1 more source

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats. [PDF]

Eur J Hum Genet
Salsi V, Losi F, Pini S, Chiara M, Tupler R.   +4 more
europepmc   +1 more source

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features. [PDF]

Eur J Neurol
Torchia E, Vandeputte P, Monforte M, Gillet C, Verny C, Bernard R, Tasca G, Spinazzi M.   +7 more
europepmc   +1 more source