Results 91 to 100 of about 1,189 (168)

cN1A Antibody-Positive Inclusion Body Myositis Following Seminoma Manifesting With Slowly Progressive Paraparesis: A Case Report. [PDF]

Cureus
Finsterer J.
europepmc   +1 more source

[Not just frailty-Sjögren's syndrome and polymyositis with mitochondrial pathology]. [PDF]

Z Rheumatol
Kremer P, Melderis S, Matschke J, Stenzel W, Kötter I, Krusche M, Holzer MT.   +6 more
europepmc   +1 more source

Rapidly Progressive Polymyositis With Vasculitis: The Pivotal Role of Histopathology in Diagnosis and Management. [PDF]

Cureus
Venmanassery Karnalsingh A, Karappilly Vijayan A, Roselin Edwin Peter M, Davis D.   +3 more
europepmc   +1 more source

Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. [PDF]

Intern Med
Sakai K, Yamada S, Higuchi Y, Nishino I.
europepmc   +1 more source

CGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum. [PDF]

J Clin Neurol
Ma J, Zhang H, Meng B, Qin J, Liu H, Pang X, Zhao R, Wang J, Chang X, Guo J, Zhang W.   +10 more
europepmc   +1 more source

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. [PDF]

Muscle Nerve
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB.   +19 more
europepmc   +1 more source

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance. [PDF]

Mol Med
Singh S, Bansal M, Sharma N, Yadav V, Mashangva F, Oswalia J, Gautam V, Jhingan GD, Subbarao N, Rathi B, Arya R.   +10 more
europepmc   +1 more source

CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy. [PDF]

Neurol Genet
Pongpakdee S, Apiwattanakul M, Termglinchan T, Witoonpanich R, Dejthevaporn C, Lee T, Wansophonkul S, Yamanaka A, Funaguma S, Lida A, Nishino I.   +10 more
europepmc   +1 more source

Novel missense variants associated with GNE myopathy

Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +1 more source