Search Results

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

• Authors : Cho BPH; Department of Clinical Neurosciences, University of Cambridge, Cambridge, Cambridgeshire, UK.; Nannoni S

Subjects: Genetic Predisposition to Disease*; CADASIL/CADASIL/CADASIL/*genetics ; Dementia, Vascular/Dementia, Vascular/Dementia, Vascular/*genetics

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2021 Jul; Vol. 92 (7), pp. 694-701. Date of Electronic Publication: 2021 Mar 12.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation.

• Authors : Chen CH; Stroke Center and Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Graduate Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.

Subjects: Cerebral Hemorrhage*/Cerebral Hemorrhage*/Cerebral Hemorrhage*/diagnostic imaging ; Cerebral Hemorrhage*/Cerebral Hemorrhage*/Cerebral Hemorrhage*/genetics; CADASIL/CADASIL/CADASIL/*genetics

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2019 Jul; Vol. 90 (7), pp. 841-843. Date of Electronic Publication: 2018 Oct 11.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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Single-cell transcriptomes and chromatin accessibility of endothelial cells unravel transcription factors associated with dysregulated angiogenesis in systemic sclerosis.

• Authors : Mengqi Huang; Tabib, Tracy; Khanna, Dinesh

• Source: Annals of the Rheumatic Diseases; Oct2024, Vol. 83 Issue 10, p1335-6, 90p

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Functional analysis of a recurrent missense mutation in Notch3 in CADASIL.

• Authors : Haritunians, T.; Chow, T.; De Lange, R. P. J.

Subjects: DEMENTIA; HEPATIC encephalopathy; ISCHEMIA

• Source: Journal of Neurology, Neurosurgery & Psychiatry; Sep2005, Vol. 76 Issue 9, p1242-1248, 7p, 1 Diagram

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7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL.

• Authors : Liem MK; Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333ZA Leiden, the Netherlands. ; Lesnik Oberstein SA

Subjects: CADASIL/CADASIL/CADASIL/*metabolism ; Caudate Nucleus/Caudate Nucleus/Caudate Nucleus/*metabolism ; Iron/Iron/Iron/*metabolism

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2012 Dec; Vol. 83 (12), pp. 1180-5. Date of Electronic Publication: 2012 Aug 25.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.

• Authors : Bentley P; Imperial College Cerebrovascular Research Unit, Imperial College Hospitals, Charing Cross Campus, Fulham Palace Rd, London W6 8RF, UK. ; Wang T

Subjects: CADASIL/CADASIL/CADASIL/*diagnosis ; CADASIL/CADASIL/CADASIL/*genetics ; Receptors, Notch/Receptors, Notch/Receptors, Notch/*genetics

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2011 Aug; Vol. 82 (8), pp. 855-60. Date of Electronic Publication: 2011 Jan 08.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

• Authors : Wang Z; Department of Neurology, Peking University First Hospital, Beijing, PR China.; Yuan Y

Subjects: CADASIL/CADASIL/CADASIL/*genetics ; Receptors, Notch/Receptors, Notch/Receptors, Notch/*genetics; Brain/Brain/Brain/pathology

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2011 May; Vol. 82 (5), pp. 534-9. Date of Electronic Publication: 2010 Oct 09.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.

• Authors : Mazzei R; Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. ; Guidetti D

Subjects: Brain/Brain/Brain/*pathology ; CADASIL/CADASIL/CADASIL/*genetics ; INDEL Mutation/INDEL Mutation/INDEL Mutation/*genetics

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2008 Jan; Vol. 79 (1), pp. 108-10. Date of Electronic Publication: 2007 Sep 14.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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The spectrum of Notch3 mutations in 28 Italian CADASIL families.

• Authors : Dotti MT; Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy.; Federico A

Subjects: CADASIL/CADASIL/CADASIL/*genetics ; Point Mutation/Point Mutation/Point Mutation/*genetics ; Proto-Oncogene Proteins/Proto-Oncogene Proteins/Proto-Oncogene Proteins/*genetics

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2005 May; Vol. 76 (5), pp. 736-8.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.

• Authors : Razvi SS; Division of Clinical Neurosciences, Institute of Neurological Sciences, Southern General Hospital, 1345 Govan Road, Glasgow G3 8QB, Scotland.; Davidson R

Subjects: CADASIL/CADASIL/CADASIL/*epidemiology; Adolescent ; Adult

• Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2005 May; Vol. 76 (5), pp. 739-41.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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