Zobrazeno 1 - 10
of 849
pro vyhledávání: '"New mutation"'
Autor:
Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé
Publikováno v:
Romanian Journal of Neurology, Vol 21, Iss 2, Pp 115-118 (2022)
Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic
Externí odkaz:
https://doaj.org/article/77e8787538a443048631f682d42bd146
Autor:
Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
Publikováno v:
Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)
Abstract Background Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholester
Externí odkaz:
https://doaj.org/article/89fe1bfb835849d6bf7551f6d57fb117
Publikováno v:
Advanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021)
A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were "mitral myxoid degeneration, chordal rupture, leaflet prolap
Externí odkaz:
https://doaj.org/article/edf35f001cb04c22adfb2d650a3a32f7
Autor:
Chunli Chen, Sitong Guo, Rui Zhao, Shoubin Liu, Jingjing Wu, Yuanyuan Xiao, Simeng Hou, Libin Jiang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: The study aimed to report a boy with familial exudative vitreoretinopathy and amblyopia harboring a new mutation of the LRP5 and OPA1 gene abnormality.Case presentation: A 9-year-old boy presented with a 2-year history of deteriorating vi
Externí odkaz:
https://doaj.org/article/649d844aebc74c6298deaadfc17d730b
Autor:
Ning Jia, Lianpeng Chang, Xin Gao, Xiaohua Shi, Xuelin Dou, Mei Guan, Yajuan Shao, Ningning Li, Yuejuan Cheng, Hongyan Ying, Zhao Sun, Yanping Zhou, Lin Zhao, Jianfeng Zhou, Chunmei Bai
Publikováno v:
BMC Cancer, Vol 21, Iss 1, Pp 1-10 (2021)
Abstract Background The understanding of molecular changes in mCRC during treatment could be used to personalise therapeutic strategies. The aim of our study was to explore the association of circulating tumour DNA (ctDNA) with clinical outcome in me
Externí odkaz:
https://doaj.org/article/4e73136590514ed6a1dfe9d621859fa4
Publikováno v:
IEEE Access, Vol 9, Pp 21532-21555 (2021)
Differential evolution (DE) algorithm has some excellent attributes including strong exploration capability. However, it cannot balance the exploitation with exploration ability in the search process. To enhance the performance of the DE algorithm, t
Externí odkaz:
https://doaj.org/article/c0014cdec7b6432e95c3b1f1165ecf6f
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Mucopolysaccharidosis III (MPSIII) or Sanfilippo syndrome is an autosomal recessive disorder of lysosomal metabolism. MPS III is caused by mutations in genes that encode for the enzymes involved in the degradation of heparan sulfate. It is c
Externí odkaz:
https://doaj.org/article/37af7833bf5643b5906c0ec55340dea0
Autor:
Quarrell, Oliver, author
Publikováno v:
Huntington's Disease, 2020, ill.
Externí odkaz:
https://doi.org/10.1093/oso/9780198844389.003.0006
Akademický článek
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Autor:
Mostafa Almasi-Dooghaee, Omid Aryani, Fatemeh Sadat Mirfazeli, Amin Jahanbakhshi, Fatemeh Mohebi
Publikováno v:
Basic and Clinical Neuroscience Journal. 13:893-900
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations an