Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Spinal muscular atrophy with lower extremity predominance"'
Autor:
Satoru Yuzawa, Munkhtuya Tumurkhuu, Ganbayar Batmunkh, Yanjinlkham Munkhsaikhan, Uranchimeg Batbuyan, Wataru Nishimura
Publikováno v:
Intractable & Rare Diseases Research. 10:102-108
The bicaudal D homolog 2 (BICD2) gene encodes a protein required for the stable complex of dynein and dynactin, which functions as a motor protein working along the microtubule cytoskeleton. Both inherited and de novo variants of BICD2 are reported w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7be22a209b9653f0c569a09b64166190
https://doi.org/10.5582/irdr.2021.01004
https://doi.org/10.5582/irdr.2021.01004
Publikováno v:
Brain and Development. 43:135-139
Background Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0adee18a5ebcc286313ec262fda94912
https://doi.org/10.1016/j.braindev.2020.08.006
https://doi.org/10.1016/j.braindev.2020.08.006
Akademický článek
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Publikováno v:
Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fd7b7e5bcbc0fea5091febe03775a9f
https://doi.org/10.1136/archdischild-2021-rcpch.160
https://doi.org/10.1136/archdischild-2021-rcpch.160
Publikováno v:
Clinical Neuropathology. 38:109-117
Heterozygous variants in the bicaudal D homolog 2 gene (BICD2) are associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). This disease is usually characterized by congenital or early-onset muscle weakn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95466c6784f533f8425d59026a05965f
https://doi.org/10.5414/np301144
https://doi.org/10.5414/np301144
Autor:
Alexa Derksen, Chantal Poulin, Maryam Oskoui, Amytice Mirchi, Luan T. Tran, Geneviève Bernard, Myriam Srour, Lei Cao-Lei
Publikováno v:
Child Neurology Open
Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945902fbad192a1e707cc0c728ee9b04
http://europepmc.org/articles/PMC8312150
http://europepmc.org/articles/PMC8312150
Autor:
Thomas Eggermann, Florian Deden, Alfred Yamoah, Anand Goswami, Bernd Sellhaus, Kristl G. Claeys, Katja Eggermann, Dagmar Wieczorek, Joachim Weis, Klaus Zerres, Sabine Rudnik-Schöneborn
Publikováno v:
Muscle & Nerve. 54:496-500
Introduction Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED). Methods We analyzed the BICD2 gene in a selected group of 25 index patients with neurogenic muscle a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e165816cb8c1bc104d6ab061b52823b6
https://doi.org/10.1002/mus.25114
https://doi.org/10.1002/mus.25114
Autor:
Eric P. Hoffman, Sebahattin Cirak, Soledad Monges, Carolina Tesi-Rocha, Jaya Punetha, Maria Emilia Franchi
Publikováno v:
Pediatric Neurology. 52:239-244
Background Molecular diagnosis of the distal spinal muscular atrophies or distal hereditary motor neuropathies remains challenging because of clinical and genetic heterogeneity. Next generation sequencing offers potential for identifying de novo muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26debaef6b6ade8ef1e7fe5b1580efaa
https://doi.org/10.1016/j.pediatrneurol.2014.09.003
https://doi.org/10.1016/j.pediatrneurol.2014.09.003
Autor:
Sophelia H. S. Chan, Inger Johanne Thuestad, Aad Verrips, Brian H.Y. Chung, Janice Ip, Erik-Jan Kamsteeg, Christopher C.Y. Mak, Nens van Alfen, Angel On-Kei Chan
Publikováno v:
Neuromuscular Disorders, 28, 750-756
Neuromuscular Disorders, 28, 9, pp. 750-756
Neuromuscular Disorders, 28, 9, pp. 750-756
Item does not contain fulltext We describe four unrelated patients with the same de novo heterozygous missense mutation c.751C>T in the DYNC1H1 gene. We found a high phenotype-genotype correlation with all four patients having early childhood-onset p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03fe0e852282dbcca53b50cd722cf691
http://hdl.handle.net/2066/196601
http://hdl.handle.net/2066/196601
Autor:
Guoqiang Li, Jian Wang, Ruen Yao, Niu Li, Yiping Shen, Xiumin Wang, Yulin Chen, Tingting Yu, Yufei Xu
Publikováno v:
Journal of child neurology. 32(4)
Exome sequencing has become a formidable tool for identifying potential de novo variants in causative genes of human diseases, such as neurodegenerative disorders. This article describes a 16-month-old girl with spinal muscular atrophy with lower ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5eece9d3d9b4e27d79ff791d908142
https://pubmed.ncbi.nlm.nih.gov/28193117
https://pubmed.ncbi.nlm.nih.gov/28193117