Results 101 to 110 of about 3,537,976 (165)

Biological properties of α-actinin-2 and its role and mechanisms in disease development. [PDF]

Front Physiol
Meng J, Xu SQ, Deng Q, Jiang LL, Huang DP, Wang QS, Wu YK.   +6 more
europepmc   +1 more source

Between myopathy and mortality: Challenges in the diagnosis of <i>PLOD1</i>-related kyphoscoliotic Ehlers-Danlos syndrome. [PDF]

J Neuromuscul Dis
Vill K, Brunet T, Brugger M, Wagner M, Baumann M, Schatz U, Pechmann A, Hannibal I, Tacke M, Giunta C, Wohlgemuth W, Wildgruber M, Müller-Felber W, Blaschek A, Rohrbach M, Huf V.   +15 more
europepmc   +1 more source

A Novel Homozygous MYH2 Variant Causing Early-Onset External Ophthalmoplegia and Proximal Myopathy in a Consanguineous Family. [PDF]

Cureus
Hammad MA, Alhroub W, Isaid A.
europepmc   +1 more source

Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders. [PDF]

J Neuromuscul Dis
Bengtsson-Stelzer L, Kroksmark AK, Persson C, Tuomi L, Ekström AB.   +4 more
europepmc   +1 more source

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]

Front Pediatr
Sanghamitra S, Mandala R, Budh H, Arora Y, Rivera-Hernandez P, Hpa NJ, Elberson V, Rawat M, Mani S.   +8 more
europepmc   +1 more source

Hair Follicle Microenvironment Changes in Collagen VI-Myopathy Patients with Alopecia. [PDF]

Cells
Pampaloni F, Piraccini BM, Bruni F, Quadrelli F, Misciali C, Merlini L, Di Martino A, Schena E, Cenni V, Starace M, Sabatelli P.   +10 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

J Neuromuscul Dis
Pennisi A, Caramizaru A, Severa G, Sternberg D, Dumitrescu A, Metay C, Biancalana V, Carlier RY, Quijano-Roy S, Malfatti E, Dobrescu A.   +10 more
europepmc   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +1 more source