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Literature DB >> 24500651

Two novel HTRA1 mutations in a European CARASIL patient.

Silvia Bianchi¹, Chiara Di Palma, Gian Nicola Gallus, Ilaria Taglia, Antonella Poggiani, Francesca Rosini, Alessandra Rufa, Dafin Fior Muresanu, Alfonso Cerase, Maria Teresa Dotti, Antonio Federico.

Abstract

Entities: Gene Mutation Species

Mesh：

Substances：

Year: 2014 PMID： 24500651 DOI： 10.1212/WNL.0000000000000202

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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18 in total

1. The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation.

Authors: Anastasia Bougea; George Velonakis; Nikolaos Spantideas; Evangelos Anagnostou; George Paraskevas; Elisabeth Kapaki; Evangelia Kararizou
Journal: Neuroradiol J Date: 2017-04-12

Review 2. White matter hyperintensities, cognitive impairment and dementia: an update.

Authors: Niels D Prins; Philip Scheltens
Journal: Nat Rev Neurol Date: 2015-02-17 Impact factor: 42.937

3. Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Authors: Ilaria Di Donato; Silvia Bianchi; Gian Nicola Gallus; Alfonso Cerase; Ilaria Taglia; Francesca Pescini; Serena Nannucci; Carla Battisti; Domenico Inzitari; Leonardo Pantoni; Andrea Zini; Antonio Federico; Maria Teresa Dotti
Journal: CNS Neurosci Ther Date: 2017-08-06 Impact factor: 5.243

Review 4. Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.

Authors: Christof Haffner; Rainer Malik; Martin Dichgans
Journal: J Cereb Blood Flow Metab Date: 2016-01 Impact factor: 6.200

5. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

Authors: Bin Cai; Jiabin Zeng; Yi Lin; Yu Lin; WenPing Lin; Wei Lin; Zhiwen Li; Ning Wang
Journal: Neurol Sci Date: 2015-03-13 Impact factor: 3.307

Two novel HTRA1 mutations in a European CARASIL patient.

1. The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation.

Review 2. White matter hyperintensities, cognitive impairment and dementia: an update.

3. Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Review 4. Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.

5. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

Review 6. Genetic susceptibility to cerebrovascular disease.

7. A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

Review 8. Genetics of cerebral small vessel disease.

Review 9. Genetics of vascular dementia - review from the ICVD working group.

10. Heterozygous HTRA1 missense mutation in CADASIL-like family disease.