Citations for
1CARASIL, HTRA1
A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.
Ibrahimi M, Nozaki H, Lee A, Onodera O, Reichwein R, Wicklund M, El-Ghanem M.
Cerebrovasc Dis 44(3-4):135-140. doi: 10.1159/000477358. [Epub ahead of print] 2017
2CARASIL, HTRA1
[Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)].
Uemura M, Nozaki H, Onodera O.
Brain Nerve 69(1):25-33. doi: 10.11477/mf.1416200631. Japanese. 2017
3CARASIL, HTRA1
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
Nozaki H, Kato T, Nihonmatsu M, Saito Y, Mizuta I, Noda T, Koike R, Miyazaki K, Kaito M, Ito S, Makino M, Koyama A, Shiga A, Uemura M, Sekine Y, Murakami A, Moritani S, Hara K, Yokoseki A, Kuwano R, Endo N, Momotsu T, Yoshida M, Nishizawa M, Mizuno T, Onodera O.
Neurology 86(21):1964-74. doi: 10.1212/WNL.0000000000002694. Epub 2016 Apr 27. 2016
4CARASIL, HTRA1
A novel mutation in the HTRA1 gene causes CARASIL without alopecia.
Nishimoto Y, Shibata M, Nihonmatsu M, Nozaki H, Shiga A, Shirata A, Yamane K, Kosakai A, Takahashi K, Nishizawa M, Onodera O, Suzuki N.
Neurology 76(15):1353-5. No abstract available. 2011
5CARASIL, HTRA1
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.
Mendioroz M, Fernández-Cadenas I, Del Río-Espinola A, Rovira A, Solé E, Fernández-Figueras MT, García-Patos V, Sastre-Garriga J, Domingues-Montanari S, Alvarez-Sabín J, Montaner J.
Neurology 75(22):2033-5. No abstract available. 2010
6CARASIL
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.
Fukutake T, Hirayama K.
Eur Neurol 35(2):69-79. Review. 1995