Results 141 to 150 of about 5,189 (209)

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +1 more source

Twenty-Five-Year Follow-Up of the MDDC1 Family: A <i>LMNA</i> Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement. [PDF]

Circ Genom Precis Med
Capovilla TM, Iseppi M, Distaso S, Gigli M, Dal Ferro M, Moretti M, Iorio A, Mancinelli A, Merlo M, Mestroni L, Paldino A, Sinagra G.   +11 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 more
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. [PDF]

Neurology
Grant A, Smith IC, Lessard LER, Osman H, Lochmuller H, McMillan HJ, Pfeffer G, Korngut L, Gagnon C, Lintern S, Selby KA, Thavorn K, Warman-Chardon J.   +12 more
europepmc   +1 more source

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +1 more source

Myxovirus Resistance A Protein Expression in Idiopathic Inflammatory Myopathies and Hereditary Muscle Diseases with Inflammatory Cell Infiltration: A North African Study. [PDF]

Int J Mol Sci
Farhat E, Zamali I, Younes TB, Klaa H, Stenzel W, Samoud S, Ben Rhouma H, Galai Y, Ben Youssef-Turki I, Kraoua I, Ben Ahmed M, Ben Hmid A.   +11 more
europepmc   +1 more source

Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]

Front Cell Dev Biol
Wein N, Barthélémy F.
europepmc   +1 more source

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related. [PDF]

J Neuromuscul Dis
Valls A, Ruiz-Roldán C, Immanuel J, Camaño P, Poza JJ, Fernández-Torrón R, López de Munain A, Sáenz A.   +7 more
europepmc   +1 more source