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Did you mean (cadasil[TIAB]) AND english[la] AND human[mh] (1,209 results)?
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Heritable and non-heritable uncommon causes of stroke.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS. Bersano A, et al. J Neurol. 2021 Aug;268(8):2780-2807. doi: 10.1007/s00415-020-09836-x. Epub 2020 Apr 21. J Neurol. 2021. PMID: 32318851 Review.
CADASIL and CARASIL.
Tikka S, Baumann M, Siitonen M, Pasanen P, Pöyhönen M, Myllykangas L, Viitanen M, Fukutake T, Cognat E, Joutel A, Kalimo H. Tikka S, et al. Brain Pathol. 2014 Sep;24(5):525-44. doi: 10.1111/bpa.12181. Brain Pathol. 2014. PMID: 25323668 Free PMC article. Review.
CADASIL and CARASIL are hereditary small vessel diseases leading to vascular dementia. ...In addition, gait disturbance, low back pain and alopecia are characteristic features. CARASIL is caused by mutations (presently n = 10) in high-temperature requirement. ...
CADASIL and CARASIL are hereditary small vessel diseases leading to vascular dementia. ...In addition, gait disturbance, low back pai …
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, Lesnik Oberstein S, Tournier-Lasserve E, Markus HS. Mancuso M, et al. Eur J Neurol. 2020 Jun;27(6):909-927. doi: 10.1111/ene.14183. Epub 2020 Mar 20. Eur J Neurol. 2020. PMID: 32196841
Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral a …
Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on sel …
Arteriolar neuropathology in cerebral microvascular disease.
Fang C, Magaki SD, Kim RC, Kalaria RN, Vinters HV, Fisher M. Fang C, et al. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12875. doi: 10.1111/nan.12875. Neuropathol Appl Neurobiol. 2023. PMID: 36564356 Free PMC article. Review.
., familial CAA, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [CADASIL] and cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [CARASIL]). The brain parenchymal consequences of MVD predo …
., familial CAA, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [CADASIL] and cerebral autosomal …
Monogenic Causes of Strokes.
Chojdak-Łukasiewicz J, Dziadkowiak E, Budrewicz S. Chojdak-Łukasiewicz J, et al. Genes (Basel). 2021 Nov 23;12(12):1855. doi: 10.3390/genes12121855. Genes (Basel). 2021. PMID: 34946804 Free PMC article. Review.
The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene di …
The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leuko …
Neuropathology of cerebrovascular diseases.
Ferrer I, Vidal N. Ferrer I, et al. Handb Clin Neurol. 2017;145:79-114. doi: 10.1016/B978-0-12-802395-2.00007-9. Handb Clin Neurol. 2017. PMID: 28987197 Review.
The chapter describes the epidemiology of cerebrovascular diseases, anatomy of the cerebral blood vessels, pathophysiology of ischemia, hypoxia, hypoxemia, anemic hypoxia, histotoxic hypoxia, carbon monoxide damage, hyperoxid brain damage and decompression sickness, and selective …
The chapter describes the epidemiology of cerebrovascular diseases, anatomy of the cerebral blood vessels, pathophysiology of ischemia, hypo …
NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Liao YC, Wei CY, Chang FP, Chou YT, Hsu SL, Chung CP, Mizuguchi T, Matsumoto N, Yet SF, Lee YC. Liao YC, et al. Stroke. 2023 May;54(5):1236-1245. doi: 10.1161/STROKEAHA.122.041848. Epub 2023 Mar 21. Stroke. 2023. PMID: 36942588
CONCLUSIONS: NOTCH2NLC GGC repeat expansion accounted for 3% of genetically unsolved Taiwanese vascular leukoencephalopathy cases after excluding participants with cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL), cerebral autoso …
CONCLUSIONS: NOTCH2NLC GGC repeat expansion accounted for 3% of genetically unsolved Taiwanese vascular leukoencephalopathy cases after excl …
CARASIL - A Review of Patients from India.
Khandelwal D, Mathur V, Vyas A, Ghunawat J, Bagaria AK. Khandelwal D, et al. Neurol India. 2021 Sep-Oct;69(5):1359-1362. doi: 10.4103/0028-3886.329544. Neurol India. 2021. PMID: 34747813 Free article. Review.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive CSVD, caused by mutation in HTRA 1 gene on chromosome 10q (10q25.3-q26.2) in homozygous or compound heterozygous form. Indian literature has …
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive C …
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.
Fukutake T. Fukutake T. J Stroke Cerebrovasc Dis. 2011 Mar-Apr;20(2):85-93. doi: 10.1016/j.jstrokecerebrovasdis.2010.11.008. Epub 2011 Jan 7. J Stroke Cerebrovasc Dis. 2011. PMID: 21215656 Review.
CARASIL is a prototype single-gene disorder of cerebral small vessels secondary to and distinct from CADASIL. CARASIL-associated mutant HTRA1 exhibited decreased protease activity and failed to repress transforming growth factor-beta family signaling, indicating tha …
CARASIL is a prototype single-gene disorder of cerebral small vessels secondary to and distinct from CADASIL. CARASIL-associat …
81 results