Results 101 to 110 of about 4,510 (163)

Special Issue "Research in iPSC-Based Disease Models". [PDF]

Int J Mol Sci
Deneault E.
europepmc   +1 more source

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. [PDF]

Biomedicines
Todorow V, Hintze S, Schoser B, Meinke P.   +3 more
europepmc   +1 more source

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series. [PDF]

Neurol Genet
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.   +19 more
europepmc   +1 more source

Thrombosis in Neuromuscular Medicine: Current Evidence, Unmet Needs, and Future Directions. [PDF]

J Clin Med
Quak ZX, Wang F, Tay SKH, Koh PL, Yap ES, Ng KWP.   +5 more
europepmc   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +1 more source

Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke. [PDF]

Cureus
Gonçalves F, Duarte D, Reis F, Vaz A, Gomes A.   +4 more
europepmc   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation. [PDF]

Int J Mol Sci
Marano N, Guner LE, Riley RS, Holaska JM.   +3 more
europepmc   +1 more source

Signs and symptoms of carriers of non-<i>DMD</i> X-linked neuromuscular diseases: A scoping review. [PDF]

J Neuromuscul Dis
Simons J, Dekker A, Govaarts R, Sarkozy A, Windpassinger C, Houwen S, Voermans N.   +6 more
europepmc   +1 more source

Genome sequencing identifies monogenic causes in adults with metabolic diseases. [PDF]

J Endocr Soc
Okur V, Marcus A, Falcone JN, Hurd MA, Stewart SL, Claudio K, Manohar J, Dealla F, Kumar S, Yeung M, Dakin G, Bellorin-Marin O, Afaneh C, Hudgins LC, Wei E, Gingras L, King A, Tung J, Rehman AU, Thomas-Wilson A, Guha S, Abhyankar A, Wilson AL, Khan SY, Srinivasa ST, Phadke S, Krithivasan P, Nava C, Chen S, Smith R, MacDonald TY, Ritter MJ, Alonso LC, Elemento O, Udler MS, Peña JM, Jobanputra V, Goncalves MD.   +37 more
europepmc   +1 more source