Results 111 to 120 of about 7,069 (164)

Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study. [PDF]

Glob Med Genet
Pomarino D, Rostásy KM, Fregien B, Schönfeldt JO, Nazarkin A.   +4 more
europepmc   +1 more source

Genetics and Genomics of Pediatric Neurological Disorders: An Overview of Current Insights and Future Directions. [PDF]

Genes (Basel)
Trabacca A, De Rinaldis M, Oliva MC, Notaristefano I, Gallo I, Ferrante C, Fanizza I.   +6 more
europepmc   +1 more source

A novel gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features [PDF]

core   +1 more source

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review. [PDF]

BMC Neurol
Takhman M, Shihab R, Hattab M, Abdallah HO, Bdair M, Gonorazky HD, Alawneh I.   +6 more
europepmc   +1 more source

Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations. [PDF]

Acta Myol
Herrera Malpica WS, Gómez JC, Ortiz-Corredor F, Hernández PVM, Correa-Arrieta C.   +4 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source

Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives. [PDF]

Biomedicines
Wu J, Hua Y, Zheng Y, Liu X, Li Y.
europepmc   +1 more source

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy. [PDF]

JCI Insight
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J.   +16 more
europepmc   +1 more source

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods. [PDF]

Pediatr Res
Kulsirichawaroj P, Chanvanichtrakool M, Wattanadilokchatkun P, Pho-Iam T, Limwongse C, Likasitwattanakul S, Boonyapisit K, Sanmaneechai O, Nishino I, Shotelersuk V, Han J, Zuchner S.   +11 more
europepmc   +1 more source

ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report. [PDF]

Acta Myol
Gadaleta G, Pidello S, Urbano G, Carli D, Mongini T.   +4 more
europepmc   +1 more source