Zobrazeno 1 - 10
of 704
pro vyhledávání: '"brain calcification"'
Autor:
Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-14 (2024)
Abstract Primary familial brain calcification (PFBC) is a genetic neurological disorder characterized by symmetric brain calcifications that manifest with variable neurological symptoms. This study aimed to explore the genetic basis of PFBC and eluci
Externí odkaz:
https://doaj.org/article/7d9125ca83074ee1806a6efaf22d448d
Autor:
Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease characterized by recurrent respiratory infections. In clinical manifestations, DNAH5 (NM_001361.3) is one of the recessive pathogenic genes. Primary fam
Externí odkaz:
https://doaj.org/article/15b90ce4c538442da7531ae5b746bca1
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 09, Pp 21-23 (2024)
Idiopathic hypoparathyroidism may remain asymptomatic or present with hypocalcaemic neuromuscular manifestations. Dermatological manifestations like exfoliative dermatitis, pustular psoriasis and symmetrical brain calcification known as Fahr’s synd
Externí odkaz:
https://doaj.org/article/c7a95ab8b67b420db828d43989c852f7
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Primary familial brain calcification (PFBC), also known as Fahr’s disease, is a central nervous system calcium deposition disorder with symmetrical basal ganglia calcification. Most PFBC cases are caused by SLC20A2 gene variant. We report a Chinese
Externí odkaz:
https://doaj.org/article/aef6d8136d10421998838dab4261612f
Autor:
Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Fahr’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement disorders and neuropsy
Externí odkaz:
https://doaj.org/article/0cde0a52159e438b829397bf0e374401
Autor:
Zhang, Xiaoyu1 cyzxy731@126.com, Ma, Gaoting1 demo_doctor@163.com, Zhao, Zhangning1 zzn304@aliyun.com, Zhu, Meijia1 acyzxy731@126.com
Publikováno v:
BMC Neurology. 1/19/2018, Vol. 18, p1-N.PAG. 6p. 2 Color Photographs, 2 Black and White Photographs.
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Primary familial brain calcification (PFBC) is a rare genetic neurodegenerative disorder characterized by bilateral calcifications in the brain. PFBC may manifest with a broad spectrum of motor, cognitive, and neuropsychiatric symptoms. Several causa
Externí odkaz:
https://doaj.org/article/3a19b53b1b5b4cb29de53acf8d09765e
Primary familial brain calcifications linked with a novel SLC20A2 gene mutation in a Chinese family.
Autor:
Mi, Tao-Mian1 (AUTHOR), Mao, Wei1 (AUTHOR), Cai, Yan-Ning2 (AUTHOR), Yang, Cai-Xia2 (AUTHOR), Wang, Chao-Dong1 (AUTHOR), Xu, Er-He1 (AUTHOR), Zhang, Hui1 (AUTHOR), Chan, Piu1 (AUTHOR) pbchan90@gmail.com
Publikováno v:
Journal of Neurogenetics. Sep2017, Vol. 31 Issue 3, p149-152. 4p.
Autor:
Pasanen, P.1,2 petra.pasanen@utu.fi, Mäkinen, J.3, Myllykangas, L.4, Guerreiro, R.5,6, Bras, J.5,6, Valori, M.7, Viitanen, M.8,9, Baumann, M.10, Tienari, P. J.7,11, Pöyhönen, M.12, Baumann, P.13
Publikováno v:
Acta Neurologica Scandinavica. Jul2017, Vol. 136 Issue 1, p59-63. 5p.
Autor:
Kockelkoren, Remko1 r.kockelkoren@umcutrecht.nl, De Vis, Jill B.1, Mali, Willem P. Th. M.1, Hendrikse, Jeroen1, de Jong, Pim A.1, Rozemuller, Annemieke M.2, Koek, Huiberdina L.3
Publikováno v:
PLoS ONE. 11/28/2016, Vol. 11 Issue 11, p1-8. 8p.