Results 101 to 110 of about 7,618,843 (150)

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders. [PDF]

Int J Mol Sci
Lee CL, Chang YH, Chuang CK, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

The Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia. [PDF]

Noro Psikiyatr Ars
Finsterer J, Mehri S.
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era. [PDF]

Acta Neuropathol Commun
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB.   +15 more
europepmc   +1 more source

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia. [PDF]

NPJ Genom Med
Koch RL, Fares AH, Cocanougher BT, Lim J, Haijer-Schreuder AB, Derks TGJ, Grünert SC, Sharma R, Jones KA, Kishnani PS.   +9 more
europepmc   +1 more source

Advanced modelling of RYR1-related myopathies using human iPS cells and 3D engineered skeletal muscles

Rossi L, Choi S, Olden IT, Biehler A, Healy L, Muntoni F, Baranello G, Sarkozy A, Lionello VM, Tedesco FS.   +9 more
europepmc   +1 more source

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. [PDF]

Genome Med
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J.   +9 more
europepmc   +1 more source

Patients With Myopathy and Scoliosis Treated Conservatively: Retrospective Long-Term Follow-Up and Prospective Outcomes. [PDF]

Global Spine J
Eylon S, Weiss PL, Rigbi A, Hanna R, Schroeder JE, Satanovsky A.   +5 more
europepmc   +1 more source

A Clinical Study on the Utility of Muscle Biopsy in Patients with Suspected Myopathy. [PDF]

Ann Indian Acad Neurol
Karunakaran S, Kuruvilla A, Nair M, Nair SS, Narasimhaiah D.   +4 more
europepmc   +1 more source