Keyword

CADASIL

Description: An inherited cerebrovascular disorder caused by mutations in NOTCH3, associated with small-vessel disease, recurrent strokes, and cognitive impairment.

Primary topic: Cerebrovascular and genetic disorders (77%)

Wikidata ID: wiki/Q1022718

OpenAlex ID: keywords/cadasil

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

1996 · Anne Joutel, Christophe Corpechot, et al. · Nature · 2,072

Endothelial/Pericyte Interactions

2005 · Annika Armulik, Alexandra Abramsson, et al. · Circulation Research · 2,049

CADASIL

2009 · Hugues Chabriat, Anne Joutel, et al. · The Lancet Neurology · 1,092

Subcortical ischaemic vascular dementia

2002 · Gustavo C Román, Timo Erkinjuntti, et al. · The Lancet Neurology · 1,068

The phenotypic spectrum of CADASIL: Clinical findings in 102 cases

1998 · M. Dichgans, M. Mayer, et al. · Annals of Neurology · 737

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1997 · Anne Joutel, Katayoun Vahedi, et al. · The Lancet · 684

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

1993 · Elisabeth Tournier-Lasserve, Anne Joutel, et al. · Nature Genetics · 684

Clinical spectrum of CADASIL: a study of 7 families

1995 · H Chabriat, K Vahedi, et al. · The Lancet · 675

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

2000 · Anne Joutel, Fréderic Andreux, et al. · Journal of Clinical Investigation · 603

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Therapeutic modulation of Notch signalling — are we there yet?

2014 · Emma R. Andersson, Urban Lendahl · Nature Reviews Drug Discovery · 457

Regulation of vascular morphogenesis by Notch signaling

2007 · Cristina Roca, Ralf H. Adams · Genes & Development · 442

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Neuropathological diagnosis of vascular cognitive impairment and vascular dementia with implications for Alzheimer’s disease

2016 · Raj N. Kalaria · Acta Neuropathologica · 441

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Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels

2001 · Natividad Villa, Liberty Walker, et al. · Mechanisms of Development · 429

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Genetics of ischaemic stroke

2007 · Martin Dichgans · The Lancet Neurology · 397

Genetics and ischaemic stroke

2000 · A. Hassan · Brain · 392

A gene for familial hemiplegic migraine maps to chromosome 19

1993 · Anne Joutel, Marie-Germaine Bousser, et al. · Nature Genetics · 389

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

2010 · Anne Joutel, Marie Monet-Leprêtre, et al. · Journal of Clinical Investigation · 379

MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL

2001 · M. O’Sullivan, J.M. Jarosz, et al. · Neurology · 367

Patterns of MRI lesions in CADASIL

1998 · H. Chabriat, C. Levy, et al. · Neurology · 343

Diagnostic strategies in CADASIL

2002 · H. S. Markus, R. J. Martin, et al. · Neurology · 336

Notch signaling in human development and disease

2012 · Andrea L. Penton, Laura D. Leonard, et al. · Seminars in Cell and Developmental Biology · 332

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1995 · Marie Magdeleine Ruchoux, Djelloul Guerouaou, et al. · Acta Neuropathologica · 329

Migraine as an inflammatory disorder

2005 · Christian Waeber, Michael A. Moskowitz · Neurology · 324

Cerebral Microhemorrhage

2006 · Anand Viswanathan, Hugues Chabriat · Stroke · 315

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients

2004 · C. Opherk · Brain · 314

Works count: 3,733

Citation count: 71,280