Results 101 to 110 of about 15,356 (198)

The inflammatory myopathies

, 2013
The inflammatory myopathies are a group of rare conditions that usually present in general practice as a patient with muscle weakness and/or an elevated serum creatine kinase (CK) level.
De Jager, JP
core  

Treatment of idiopathic Inflammatory myopathies

, 2014
Idiopathic inflammatory myopathies are a group of rare, disorders with the primary features of muscle weakness and inflammatory lesions identified in skeletal muscle specimens.
Bercovici, Einav
core  

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features.
Nascimento A, Thompson R, Natera-de Benito D, Colomer J, Jou C, Topf A, Lochmuller H, Abicht A, Muller JS, Evangelista T, Jimenez-Mallebrera C, Ortez C   +11 more
core   +4 more sources

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

, 1999
The nemaline myopathies are muscle disorders of variable severity and age of onset, with characteristic nemaline bodies in the sarcoplasm. Genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two ...
Boltshauser, E., Davis, M.R., Tan, P., Laing, N., Wilton, S.D., North, K., Briner, J., Wallgren-Pettersson, C.   +7 more
core  

Quantitative histopathology in congenital myopathies

, 1987
A histo-morphometric analysis has been carried out in 23 muscle biopsies obtained from patients with congenital myopathies (6 nemaline m., 10 centronuclear m., 4 central core m., 3 multicore m.) in order to improve diagnosis and to confirm the data ...
Angelini C., Ceccato M. B., Micaglio G., Trevisan C.   +3 more
core  

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]

J Clin Med
Sadeh M, Dabby R.
europepmc   +1 more source

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes. [PDF]

Front Med (Lausanne)
Rinella S, Anastasio G, Sapuppo A, Bianco ML, Leonardi R, Pavone P, Ruggieri M, Polizzi A.   +7 more
europepmc   +1 more source

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

Hum Mutat
de Feraudy Y, Maino A, Boedec M, Lornage X, Romero NB, Monges S, Lubieniecki F, Foncuberta ME, Tard C, Maurage CA, Csanyi M, Marcorelles P, Stojkovic T, Feasson L, Fradin M, Gousse G, Laugel V, Masingue M, Nadaj-Pakleza A, Bevilacqua JA, Neb Study Group, Rendu J, Bohm J, Biancalana V, Laporte J.   +24 more
europepmc   +1 more source

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 more
europepmc   +1 more source

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
europepmc   +1 more source