Results 141 to 150 of about 4,991 (181)

Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy. [PDF]

Muscle Nerve
Kilburn SN, Thomas S, Havlik AL, Mathews KD, Street N, Soim A, Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).   +8 more
europepmc   +1 more source

Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study. [PDF]

Acta Myol
Bareja N, Desai B, Vytopil M, Srinivasan J, Ghasemi M.   +4 more
europepmc   +1 more source

The mutational burden in os odontoideum patients. [PDF]

Orphanet J Rare Dis
Tian Y, Gao G, Fan D, Xue S, Gao Q, Zhang C, Xu N, Wang S.   +7 more
europepmc   +1 more source

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. [PDF]

Neurology
Grant A, Smith IC, Lessard LER, Osman H, Lochmuller H, McMillan HJ, Pfeffer G, Korngut L, Gagnon C, Lintern S, Selby KA, Thavorn K, Warman-Chardon J.   +12 more
europepmc   +1 more source

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +1 more source

Facioscapulohumeral muscular dystrophy

, 2018
Yuranga Weerakkody, Mohamed Saber, Craig Hacking   +2 more
openaire   +1 more source

The Facioscapulohumeral Muscular Dystrophy Rasch-Built Overall Disability Scale (FSHD-RODS): Longitudinal Assessment of a Disease-Specific Patient Reported Outcome. [PDF]

Eur J Neurol
Teeselink S, Vincenten SCC, Voermans NC, van Alfen N, van Engelen BGM, Mul K.   +5 more
europepmc   +1 more source

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice. [PDF]

Orphanet J Rare Dis
Severa G, Souvannanorath S, Tahiri I, Alimi C, Slioui A, Villa L, Salort-Campana E, Leturcq F, Streichenberger N, Krahn M, Solé G, Feasson L, Nadaj-Pakleza A, Tard C, Stojkovic T, Sacconi S, Malfatti E.   +16 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

KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity. [PDF]

Genes Dev
Hamm DC, O'Donnell AB, Bennett SR, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Tapscott SJ.   +6 more
europepmc   +1 more source