Zobrazeno 1 - 10
of 1 365
pro vyhledávání: '"Distal myopathy"'
Publikováno v:
Българска кардиология, Vol 30, Iss 2, Pp 120-131 (2024)
The follow-up of pregnant patients with cardiomyopathies is a challenge that every cardiologist will be facing sooner or later. We present the first case of a patient with restrictive cardiomyopathy and Alpha-B-crystallinopathy (distal myopathy type)
Externí odkaz:
https://doaj.org/article/fb79e33315c24259887421f8c96ad904
Autor:
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we in
Externí odkaz:
https://doaj.org/article/fc95aff1a11a47e6b8625db32ad1a72b
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrel
Externí odkaz:
https://doaj.org/article/767c78e3fee34cb1a100e23c02fb576a
Akademický článek
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Autor:
Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Olga Gilvanova, Daniil Degterev, Olga Shchagina, Tatiana Cherevatova, Maria Bulakh, Darya Sherstyukova, Oksana Ryzhkova, Olga Kurushina, Mikhail Skoblov, Artem Borovikov, Sergey Kutsev
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM hav
Externí odkaz:
https://doaj.org/article/0e97c5b455b14c928a3ae1cdf362ce68
Publikováno v:
Cells, Vol 13, Iss 23, p 1961 (2024)
T-cell intracellular antigen 1 (TIA1) is an RNA-binding protein (RBP) that plays a multifunctional role in RNA metabolism. TIA1 has three RNA-Recognition Motifs (RRMs) and a prion-like carboxyl C-terminal domain (LCD) with intrinsically disordered re
Externí odkaz:
https://doaj.org/article/f366cfcea5814189a9ab046b364a6c83
Akademický článek
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Autor:
Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger w
Externí odkaz:
https://doaj.org/article/7ca7f92fbd3944b0bcbf8f0ad5df08b7
Autor:
I. V. Sharkova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 1, Pp 44-51 (2023)
Background. Progressive muscular dystrophies (PMD) are a group of genetically heterogeneous diseases that manifest in the age range from early childhood to adulthood. Depending on the predominant topography of the muscular lesion, there are: limb-gir
Externí odkaz:
https://doaj.org/article/5f41795a4ffb483288d17caf9b98847f
Akademický článek
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