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Eosinophilic myositis: an updated review.
Selva-O'Callaghan A, Trallero-Araguás E, Grau JM. Selva-O'Callaghan A, et al. Autoimmun Rev. 2014 Apr-May;13(4-5):375-8. doi: 10.1016/j.autrev.2014.01.018. Epub 2014 Jan 11. Autoimmun Rev. 2014. PMID: 24424174 Review.
There are at least three distinct subtypes: focal eosinophilic myositis, eosinophilic polymyositis, and eosinophilic perimyositis. ...
There are at least three distinct subtypes: focal eosinophilic myositis, eosinophilic polymyositis, and eosinophilic perimyosi …
Molecular detection of cattle Sarcocystis spp. in North-West Italy highlights their association with bovine eosinophilic myositis.
Rubiola S, Civera T, Panebianco F, Vercellino D, Chiesa F. Rubiola S, et al. Parasit Vectors. 2021 Apr 23;14(1):223. doi: 10.1186/s13071-021-04722-5. Parasit Vectors. 2021. PMID: 33892779 Free PMC article.
METHODS: To reach our aim, individual striated muscle samples from BEM condemned carcasses (N = 54) and diaphragm muscle samples from randomly sampled carcasses (N = 59) were obtained from Northwest Italy slaughterhouses. ...Notably, among the different Sarcocystis spp. de …
METHODS: To reach our aim, individual striated muscle samples from BEM condemned carcasses (N = 54) and diaphragm muscle samples from ran …
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle.
In 't Groen SLM, Franken M, Bock T, Krüger M, de Greef JC, Pijnappel WWMP. In 't Groen SLM, et al. Skelet Muscle. 2024 Feb 22;14(1):3. doi: 10.1186/s13395-024-00335-5. Skelet Muscle. 2024. PMID: 38389096 Free PMC article.
However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish disease-related readouts from random variability. The generation of genetically matched isogenic controls using gene editing can reduce variability, but the gen …
However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish disease-related readouts fr …
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M. Pathak P, et al. J Neuromuscul Dis. 2021;8(1):125-136. doi: 10.3233/JND-200547. J Neuromuscul Dis. 2021. PMID: 33337384
We observed a slow progression of disease and less severity in our patients compared to European population. Rarely, presenting clinical features were atypical, and mimicked other muscle diseases like FSHMD, distal myopathy and metabolic myopathies. ...Our findings priorit …
We observed a slow progression of disease and less severity in our patients compared to European population. Rarely, presenting clinical …
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I. Lostal W, et al. Sci Transl Med. 2019 Nov 27;11(520):eaat6072. doi: 10.1126/scitranslmed.aat6072. Sci Transl Med. 2019. PMID: 31776291 Free PMC article.
Limb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mutations in the calpain 3 gene (CAPN3). ...Our studies highlight a complex interplay between calpain 3 and titin binding sites and demonstrat …
Limb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mu …
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I. Bartoli M, et al. Mol Ther. 2006 Feb;13(2):250-9. doi: 10.1016/j.ymthe.2005.09.017. Epub 2005 Nov 14. Mol Ther. 2006. PMID: 16290124 Free article.
Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the calcium-dependent cysteine protease calpain 3. ...
Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder ca …
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC. Pantoja-Melendez CA, et al. PLoS One. 2017 Jan 19;12(1):e0170280. doi: 10.1371/journal.pone.0170280. eCollection 2017. PLoS One. 2017. PMID: 28103310 Free PMC article.
In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating nu …
In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of …
Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy.
Prahm KP, Feldt-Rasmussen U, Vissing J. Prahm KP, et al. Neuromuscul Disord. 2017 Apr;27(4):358-362. doi: 10.1016/j.nmd.2017.01.015. Epub 2017 Jan 23. Neuromuscul Disord. 2017. PMID: 28190647
The 6MWT stabilized during the initial 18-month treatment period, then deteriorated in the 6 months off treatment and improved to pre-trial levels when treatment was resumed. The findings suggest that supplementation with somatropine, within physiological ranges, may impro …
The 6MWT stabilized during the initial 18-month treatment period, then deteriorated in the 6 months off treatment and improved to pre-tri …
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