Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Distal spinal muscular atrophy"'
Autor:
A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 42-55 (2023)
TRPV4‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are distinguished. There are Charcot–Marie–Tooth disease type 2C, distal hereditary motor neuropathy t
Externí odkaz:
https://doaj.org/article/47a4aae3e5d74c7d8cbc451951a1d757
Publikováno v:
Iranian Journal of Public Health, Vol 49, Iss 3 (2020)
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are assoc
Externí odkaz:
https://doaj.org/article/ed5bbe8b12204a4483f42fd54fe55a29
Autor:
Sleigh, James N., Dawes, John M., West, Steven J., Wei, Na, Spaulding, Emily L., Gómez-Martín, Adriana, Zhang, Qian, Burgess, Robert W., Cader, M. Zameel, Talbot, Kevin, Yang, Xiang-Lei, Bennett, David L., Schiavo, Giampietro
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2017 Apr . 114(16), E3324-E3333.
Externí odkaz:
https://www.jstor.org/stable/26480462
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 2, Pp 52-57 (2016)
Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155
Externí odkaz:
https://doaj.org/article/db2ac48f7a8e477798861dafdd916429
Autor:
Battini Roberta, Reilly Mary M., Manzur Adnan, Astrea Guja, Mercuri Eugenio, Gunny Roxana, Muntoni Francesco, M. Morrow Jasper, Yousry Tarek A
Publikováno v:
Neuromuscular Disorders. 32:142-149
Muscle MRI has an increasing role in diagnosis of inherited neuromuscular diseases, but no features are known which reliably differentiate myopathic and neurogenic conditions. Using patients presenting with early onset distal weakness, we aimed to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2bff692677ec63ddbc16961e05b02e
https://doi.org/10.1016/j.nmd.2021.11.003
https://doi.org/10.1016/j.nmd.2021.11.003
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Dominant mutations in GARS, encoding the ubiquitous enzyme glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and Charcot-Marie-Tooth disease type 2D (CMT2D). This genetic disorder exemplifies a recurring paradigm in neurodegeneratio
Externí odkaz:
https://doaj.org/article/6e171dfd54e24c28bf4712f62cfdd465
Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 3, Pp 395-398 (2016)
Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age w
Externí odkaz:
https://doaj.org/article/a0aa500402ba4bd9b99d96af21e398ad
Autor:
Ioanna Pyromali, Sylvie Bourthoumieu, Franck Sturtz, Guilhem Solé, Paco Derouault, Mélanie Fradin, Fanny Duval, Constantin Gomes, Nesrine Benslimane, Anne-Sophie Lia, Alexandre Perani, Angélique Nizou, Frédéric Favreau, Corinne Magdelaine
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 4265-4272 (2021)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Elsevier, 2021, 19, pp.4265-4272. ⟨10.1016/j.csbj.2021.07.037⟩
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Elsevier, 2021, 19, pp.4265-4272. ⟨10.1016/j.csbj.2021.07.037⟩
International audience; Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345761030aa559e00f52cb6998a2e26a
http://www.sciencedirect.com/science/article/pii/S2001037021003275
http://www.sciencedirect.com/science/article/pii/S2001037021003275
Publikováno v:
Frontiers in Molecular Biosciences, Vol 3 (2016)
Distal hereditary motor neuropathies (dHMN) comprise a group of rare hereditary neuromuscular disorders characterized by a peroneal muscular atrophy without sensory symptoms. To date twenty-three genes for dHMN have been reported and four of them enc
Externí odkaz:
https://doaj.org/article/0ed25bc71c824b4385de92eacd8aad1a
Publikováno v:
Medizinische Genetik. 32:207-219
Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other clinical ent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d419aadb821a3d5feac2c2ca009a39d
https://doi.org/10.1515/medgen-2020-2038
https://doi.org/10.1515/medgen-2020-2038