CADASIL and CARASIL

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

Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cécillion, M., Maréchal, E., et al. (1996) · Nature · doi:10.1038/383707a0 · Cited by 2,068

CADASIL

Chabriat, H., Joutel, A., Dichgans, M., Tournier-Lasserve, E., & Bousser, M.-G. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70127-9 · Cited by 1,088

The vascular smooth muscle cell in arterial pathology: a cell that can take on multiple roles

Lacolley, P. J., Regnault, V., Nicoletti, A., Li, Z., & Michel, J. (2012) · Cardiovascular Research · doi:10.1093/cvr/cvs135 · Cited by 744

The phenotypic spectrum of CADASIL: Clinical findings in 102 cases

Dichgans, M., Mayer, M., Uttner, I., Brüning, R., Müller‐Höcker, J., Rungger, G., Ebke, M., Klockgether, T., & Gasser, T. (1998) · Annals of Neurology · doi:10.1002/ana.410440506 · Cited by 737

The Notch1 receptor is cleaved constitutively by a furin-like convertase

Logeat, F., Chable-Bessia, C., Brou, C., Bail, O. L., Jarriault, S., Seidah, N. G., & Israël, A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.14.8108 · Cited by 737

Amyloid-like Aggregates Sequester Numerous Metastable Proteins with Essential Cellular Functions

Olzscha, H., Schermann, S. M., Woerner, A. C., Pinkert, S., Hecht, M. H., Tartaglia, G. G., Vendruscolo, M., Hayer-Hartl, M. K., Hartl, F. U., & Vabulas, R. M. (2011) · Cell · doi:10.1016/j.cell.2010.11.050 · Cited by 696

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

Tournier‐Lasserve, E., Joutel, A., Melki, J., Weissenbach, J., Lathrop, M. G., Chabriat, H., Mas, J., Cabanis, E. A., Baudrimont, M., Maciazek, J., et al. (1993) · Nature Genetics · doi:10.1038/ng0393-256 · Cited by 676

Clinical spectrum of CADASIL: a study of 7 families

Chabriat, H., Vahedi, K., Bousser, M. G., Iba-Zizen, M. T., Joutel, A., Nibbio, A., Nagy, T. G., Tournier Lasserve, E., Krebs, M. O., Julien, J., et al. (1995) · The Lancet · doi:10.1016/s0140-6736(95)91557-5 · Cited by 669

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

Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cécillon, M., Battail‐Poirot, N., Piga, N., Chapon, F., Godfrain, C., & Tournier‐Lasserve, E. (2000) · Journal of Clinical Investigation · doi:10.1172/jci8047 · Cited by 614

Cerebral White Matter Is Highly Vulnerable to Ischemia

Pantoni, L., García, J. H., & Gutierrez, J. A. (1996) · Stroke · doi:10.1161/01.str.27.9.1641 · Cited by 612

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Aartsma-Rus, A. M., Fokkema, I. F. A. C., Verschuuren, J. J. G. M., Ginjaar, I. B., van Deutekom, J. C. T., van Ommen, G. B., & den Dunnen, J. T. (2009) · Human Mutation · doi:10.1002/humu.20918 · Cited by 576

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0801560 · Cited by 460

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

Joutel, A., Monet-Leprêtre, M., Gosele, C., Baron-Menguy, C., Hammes, A., Schmidt, S., Lemaire-Carrette, B., Domenga, V., Schedl, A., Lacombe, P., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci39733 · Cited by 379

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

Ruchoux, M. M., Guerouaou, D., Vandenhaute, B., Pruvo, J., Vermersch, P., & Leys, D. (1995) · Acta Neuropathologica · doi:10.1007/bf00571504 · Cited by 326

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study.

Baudrimont, M., Dubas, F., Joutel, A., Tournier‐Lasserve, E., & Bousser, M. (1993) · Stroke · doi:10.1161/01.str.24.1.122 · Cited by 320

Selective Use of ADAM10 and ADAM17 in Activation of Notch1 Signaling

Çağavi, E., & Weinmaster, G. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00406-09 · Cited by 309

Cerebral Microbleeds in CADASIL: A Gradient-Echo Magnetic Resonance Imaging and Autopsy Study

Dichgans, M., Holtmannspötter, M., Herzog, J., Peters, N., Bergmann, M., & Yousry, T. A. (2002) · Stroke · doi:10.1161/hs0102.100885 · Cited by 293

Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL

Dichgans, M., Markus, H. S., Salloway, S., Verkkoniemi, A., Moline, M., Wang, Q., Posner, H., & Chabriat, H. S. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70046-2 · Cited by 264

CADASIL: a Common Form of Hereditary Arteriopathy Causing Brain Infarcts and Dementia

Kalimo, H., Ruchoux, M. M., Viitanen, M. H., & Kalaria, R. N. (2002) · Brain Pathology · doi:10.1111/j.1750-3639.2002.tb00451.x · Cited by 262

Characterization of Notch3‐deficient mice: Normal embryonic development and absence of genetic interactions with a Notch1 mutation

Krebs, L. T., Xue, Y., Norton, C. R., Sundberg, J. P., Beatus, P., Lendahl, U., Joutel, A., & Gridley, T. (2003) · genesis · doi:10.1002/gene.10241 · Cited by 257

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

Joutel, A., Favrole, P., Labauge, P., Chabriat, H., Lescoat, C., Andreux, F., Domenga, V., Cécillon, M., Vahedi, K., Ducros, A., et al. (2001) · The Lancet · doi:10.1016/s0140-6736(01)07142-2 · Cited by 252

DSL ligand endocytosis physically dissociates Notch1 heterodimers before activating proteolysis can occur

Nichols, J. T., Miyamoto, A., Olsen, S. L., D’Souza, B., Yao, C., & Weinmaster, G. (2007) · The Journal of Cell Biology · doi:10.1083/jcb.200609014 · Cited by 249

Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals

Adib-Samii, P., Brice, G., Martin, R. J., & Markus, H. S. (2010) · Stroke · doi:10.1161/strokeaha.109.568402 · Cited by 239

Transgenic Mice Expressing Mutant Notch3 Develop Vascular Alterations Characteristic of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Ruchoux, M. M., Domenga, V., Brulin, P., Maciazek, J., Limol, S., Tournier‐Lasserve, E., & Joutel, A. (2003) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63824-2 · Cited by 233

Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL

Monet, M., Haddad, I., Baron‐Menguy, C., Panchal, M., Riani, M., Domenga, V., Dussaule, C., Cognat, E., Vinh, J., & Joutel, A. (2013) · Brain · doi:10.1093/brain/awt092 · Cited by 229

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype

Singhal, S. (2004) · Brain · doi:10.1093/brain/awh223 · Cited by 224

Cerebral microbleeds in CADASIL

Lesnik Oberstein, S. A. J., van den Boom, R., van Buchem, M. A., van Houwelingen, H. C., Bakker, E., Vollebregt, E., Ferrari, M. D., Breuning, M. H., & Haan, J. (2001) · Neurology · doi:10.1212/wnl.57.6.1066 · Cited by 218

Clinical Severity in CADASIL Related to Ultrastructural Damage in White Matter: In Vivo Study With Diffusion Tensor MRI

Chabriat, H., Pappata, S., Poupon, C., Clark, C. A., Vahedi, K., Poupon, F., Mangin, J. F., Pachot-Clouard, M., Jobert, A., Le Bihan, D., et al. (1999) · Stroke · doi:10.1161/01.str.30.12.2637 · Cited by 214

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Tikka, S., Mykkänen, K., Ruchoux, M., Bergholm, R., Junna, M., Pöyhönen, M., Yki‐Järvinen, H., Joutel, A., Viitanen, M. H., Baumann, M., et al. (2009) · Brain · doi:10.1093/brain/awn364 · Cited by 210

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

Razvi, S. (2005) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2004.051847 · Cited by 206

Notch Signaling Regulates Platelet-Derived Growth Factor Receptor-β Expression in Vascular Smooth Muscle Cells

Jin, S., Hansson, E. M., Tikka, S., Lanner, F., Sahlgren, C., Farnebo, F. A., Baumann, M., Kalimo, H., & Lendahl, U. (2008) · Circulation Research · doi:10.1161/circresaha.107.167965 · Cited by 202

Cerebral Hemodynamics in CADASIL Before and After Acetazolamide Challenge Assessed With MRI Bolus Tracking

Chabriat, H., Pappatà, S., Østergaard, L., Clark, C., Pachot‐Clouard, M., Vahedi, K., Jobert, A., Bihan, D. L., & Bousser, M. (2000) · Stroke · doi:10.1161/01.str.31.8.1904 · Cited by 185

The Pattern of Cognitive Performance in CADASIL: A Monogenic Condition Leading to Subcortical Ischemic Vascular Dementia

Peters, N., Opherk, C., Danek, A., Ballard, C., Herzog, J., & Dichgans, M. (2005) · American Journal of Psychiatry · doi:10.1176/appi.ajp.162.11.2078 · Cited by 178

Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activity via the RBP/JK Signaling Pathway

Joutel, A., Monet, M., Domenga, V., Riant, F., & Tournier‐Lasserve, E. (2004) · The American Journal of Human Genetics · doi:10.1086/381506 · Cited by 170

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): From Discovery to Gene Identification

Fukutake, T. (2011) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2010.11.008 · Cited by 167

Vascular fibrosis in atherosclerosis

Lan, T.-H., Huang, X., & Tan, H. (2013) · Cardiovascular Pathology · doi:10.1016/j.carpath.2013.01.003 · Cited by 166

Fibrosis and Stenosis of the Long Penetrating Cerebral Arteries: the Cause of the White Matter Pathology in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Miao, Q., Paloneva, T., Tuominen, S., Pöyhönen, M., Tuisku, S., Viitanen, M. H., & Kalimo, H. (2004) · Brain Pathology · doi:10.1111/j.1750-3639.2004.tb00078.x · Cited by 161

CADASIL: a review with proposed diagnostic criteria

Davous, P. (1998) · European Journal of Neurology · doi:10.1046/j.1468-1331.1998.530219.x · Cited by 161

Apathy

Reyes, S., Viswanathan, A., Godin, O., Dufouil, C., Benisty, S., Hernandez, K., Kurtz, A., Jouvent, É., O'Sullivan, M. J., Czernecki, V., et al. (2009) · Neurology · doi:10.1212/01.wnl.0000344166.03470.f8 · Cited by 150

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

Ishiko, A., Shimizu, A., Nagata, E., Takahashi, K., Tabira, T., & Suzuki, N. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0116-2 · Cited by 149

LTBPs, more than just an escort service

Todorović, V., & Rifkin, D. B. (2012) · Journal of Cellular Biochemistry · doi:10.1002/jcb.23385 · Cited by 149

Visualization of Perivascular Spaces and Perforating Arteries With 7 T Magnetic Resonance Imaging

Bouvy, W. H., Biessels, G. J., Kuijf, H. J., Kappelle, L. J., Luijten, P. R., & Zwanenburg, J. J. M. (2014) · Investigative Radiology · doi:10.1097/rli.0000000000000027 · Cited by 142

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

Arboleda‐Velásquez, J. F., Manent, J., Lee, J. H., Tikka, S., Ospina, C., Vanderburg, C. R., Frosch, M. P., Rodríguez‐Falcón, M., Villén, J., Gygi, S. P., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1101964108 · Cited by 141

Impaired Cerebral Vasoreactivity in a Transgenic Mouse Model of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Arteriopathy

Lacombe, P. M., Oligo, C., Domenga, V., Tournier‐Lasserve, E., & Joutel, A. (2005) · Stroke · doi:10.1161/01.str.0000163080.82766.eb · Cited by 140

The minimum prevalence of CADASIL in northeast England

Narayan, S. K., Gorman, G. S., Kalaria, R. N., Ford, G. A., & Chinnery, P. F. (2012) · Neurology · doi:10.1212/wnl.0b013e31824d586c · Cited by 130

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

Monet, M., Bardot, B., Lemaire, B., Domenga, V., Godin, O., Dichgans, M., Tournier‐Lasserve, E., Cohen‐Tannoudji, M., Chabriat, H., & Joutel, A. (2009) · Brain · doi:10.1093/brain/awp049 · Cited by 124

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk

Peters, N., Opherk, C., Zacherle, S., Capell, A., Gempel, P., & Dichgans, M. (2004) · Experimental Cell Research · doi:10.1016/j.yexcr.2004.06.004 · Cited by 120

New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature.

Vérin, M., Rolland, Y., Landgraf, F., Chabriat, H., Bompais, B., Michel, A., Vahedi, K., Martinet, J. P., Tournier‐Lasserve, E., & Lemaitre, M. H. (1995) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.59.6.579 · Cited by 119

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling

Karlström, H., Beatus, P., Dannaeus, K., Chapman, G., Lendahl, U., & Lundkvist, J. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.252624099 · Cited by 116

Cognitive Alterations in Non-Demented CADASIL Patients

Taillia, H., Chabriat, H., Kurtz, A., Vérin, M., Lévy, C., Vahedi, K., Tournier‐Lasserve, E., & Bousser, M. (1998) · Cerebrovascular Diseases · doi:10.1159/000015825 · Cited by 115

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1

Shiga, A., Nozaki, H., Yokoseki, A., Nihonmatsu, M., Kawata, H., Kato, T., Koyama, A., Arima, K., Ikeda, M., Katada, S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr063 · Cited by 115

Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL

Liem, M. K., van der Grond, J., Haan, J., van den Boom, R., Ferrari, M. D., Knaap, Y. M., Breuning, M. H., van Buchem, M. A., Middelkoop, H. A. M., & Lesnik Oberstein, S. A. J. (2007) · Stroke · doi:10.1161/01.str.0000257968.24015.bf · Cited by 114 · cited 1×

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo

Monet, M., Domenga, V., Lemaire, B., Souilhol, C., Vives, F. L., Babinet, C., Gridley, T., Tournier‐Lasserve, E., Cohen‐Tannoudji, M., & Joutel, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm042 · Cited by 114

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis

Duering, M., Karpinska, A., Rosner, S., Hopfner, F., Zechmeister, M., Peters, N., Kremmer, E., Haffner, C., Giese, A., Dichgans, M., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr237 · Cited by 109

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Yanagawa, S., Ito, N., Arima, K., & Ikeda, S. (2002) · Neurology · doi:10.1212/wnl.58.5.817 · Cited by 107

Features of Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Nozaki, H., Nishizawa, M., & Onodera, O. (2014) · Stroke · doi:10.1161/strokeaha.114.004236 · Cited by 104

Insidious Cognitive Decline in CADASIL

Amberla, K., Wäljas, M., Tuominen, S., Almkvist, O., Pöyhönen, M., Tuisku, S., Kalimo, H., & Viitanen, M. H. (2004) · Stroke · doi:10.1161/01.str.0000129787.92085.0a · Cited by 103

Impaired Vascular Mechanotransduction in a Transgenic Mouse Model of CADASIL Arteriopathy

Dubroca, C., Lacombe, P. M., Domenga, V., Maciazek, J., Levy, B. I., Tournier‐Lasserve, E., Joutel, A., & Henrion, D. (2004) · Stroke · doi:10.1161/01.str.0000149949.92854.45 · Cited by 98

Notch signalling in smooth muscle cells during development and disease

Fouillade, C., Monet, M., Baron‐Menguy, C., & Joutel, A. (2012) · Cardiovascular Research · doi:10.1093/cvr/cvs019 · Cited by 96

Functional redundancy of the Notch gene family during mouse embryogenesis: Analysis of Notch gene expression in Notch3-deficient mice

Kitamoto, T., Takahashi, K., Takimoto, H., Tomizuka, K., Hayasaka, M., Tabira, T., & Hanaoka, K. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.03.241 · Cited by 93

Phenotype of a Homozygous CADASIL Patient in Comparison to 9 Age-Matched Heterozygous Patients With the Same R133C Notch3 Mutation

Tuominen, S., Juvonen, V., Amberla, K., Jolma, T., Rinne, J. O., Tuisku, S., Kurki, T. J. I., Marttila, R. J., Pöyhönen, M., Savontaus, M., et al. (2001) · Stroke · doi:10.1161/01.str.32.8.1767 · Cited by 92

Yield of Screening for CADASIL Mutations in Lacunar Stroke and Leukoaraiosis

Dong, Y., Hassan, A., Zhang, Z., Huber, D., Dalageorgou, C., & Markus, H. S. (2003) · Stroke · doi:10.1161/01.str.0000048162.16852.88 · Cited by 91

Positron Emission Tomography Examination of Cerebral Blood Flow and Glucose Metabolism in Young CADASIL Patients

Tuominen, S., Miao, Q., Kurki, T. J. I., Tuisku, S., Pöyhönen, M., Kalimo, H., Viitanen, M. H., Sipilä, H. T., Bergman, J. R., & Rinne, J. O. (2004) · Stroke · doi:10.1161/01.str.0000124124.69842.2d · Cited by 91

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese

Lee, Y., Liu, C.-S., Chang, M.-H., Lin, K., Fuh, J., Lu, Y.-C., Liu, Y., & Soong, B. (2009) · Journal of Neurology · doi:10.1007/s00415-009-0091-3 · Cited by 90

Brain Microvascular Accumulation and Distribution of the NOTCH3 Ectodomain and Granular Osmiophilic Material in CADASIL

Yamamoto, Y., Craggs, L., Watanabe, A., Booth, T. A., Attems, J., Low, R. W. C., Oakley, A. E., & Kalaria, R. N. (2013) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31829020b5 · Cited by 87

Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension

Fukutake, T., & Hirayama, K. (2008) · European Neurology · doi:10.1159/000117096 · Cited by 85

Control of Notch-ligand endocytosis by ligand-receptor interaction

Hansson, E. M., Lanner, F., Das, D., Mutvei, A. P., Marklund, U., Ericson, J., Farnebo, F. A., Stumm, G., Stenmark, H., Andersson, E. R., et al. (2010) · Journal of Cell Science · doi:10.1242/jcs.073239 · Cited by 85

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

Joutel, A., Chabriat, H., Vahedi, K., Domenga, V., Vayssière, C., Ruchoux, M. M., Lucas, C., Leys, D., Bousser, M., & Tournier‐Lasserve, E. (2000) · Neurology · doi:10.1212/wnl.54.9.1874 · Cited by 83

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

Wang, Z., Yuan, Y., Zhang, W., Lv, H., Hong, D., Chen, B., Liu, Y., Luan, X., Xie, S., & Wu, S. (2010) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2010.209247 · Cited by 83

Regulation of postnatal bone homeostasis by TGFβ

Tang, S. Y., & Alliston, T. N. (2013) · BoneKEy Reports · doi:10.1038/bonekey.2012.255 · Cited by 77

Arterioles of the Lenticular Nucleus in CADASIL

Miao, Q., Paloneva, T., Tuisku, S., Roine, S., Pöyhönen, M., Viitanen, M. H., & Kalimo, H. (2006) · Stroke · doi:10.1161/01.str.0000236838.84150.c2 · Cited by 70

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a positron emission tomography study in two affected family members.

Chabriat, H., Bousser, M., & Pappatà, S. (1995) · PubMed · Cited by 70

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

Mendióroz, M., Fernández‐Cadenas, I., Río-Espínola, A. D., Rovira, À., Solé, E., Fernández‐Figueras, M. T., García‐Patos, V., Sastre‐Garriga, J., Domingues‐Montanari, S., Álvarez‐Sabín, J., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181ff96ac · Cited by 68

Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)

Arima, K., Yanagawa, S., Ito, N., & Ikeda, S. (2003) · Neuropathology · doi:10.1046/j.1440-1789.2003.00519.x · Cited by 66

Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C

Choi, J. C., Song, S.-K., Lee, J. S., Kang, S.-Y., & Kang, J.-H. (2013) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2011.07.002 · Cited by 66

Myocardial Infarction in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Oberstein, S. A. J. L., Jukema, J. W., van Duinen, S. G., Macfarlane, P. W., van Houwelingen, H. C., Breuning, M. H., Ferrari, M. D., & Haan, J. (2003) · Medicine · doi:10.1097/01.md.0000085054.63483.40 · Cited by 65

Large cerebral artery involvement in CADASIL

Choi, E. J., Choi, C. G., & Kim, J. S. (2005) · Neurology · doi:10.1212/01.wnl.0000180965.79209.50 · Cited by 61

CADASIL mutations impair Notch3 glycosylation by Fringe

Arboleda‐Velásquez, J. F., Rampal, R. K., Fung, E., Darland, D. C., Liu, M., Martinez, M. C., Donahue, C. P., Navarro‐Gonzalez, M. F., Libby, P., D'Amore, P. A., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi171 · Cited by 60

Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model

Cognat, E., Cléophax, S., Domenga, V., & Joutel, A. (2014) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-2-49 · Cited by 60

The therapeutic potential of siRNA in gene therapy of neurodegenerative disorders.

Koutsilieri, E., Rethwilm, A., & Scheller, C. (2007) · Journal of neural transmission. Supplementum · doi:10.1007/978-3-211-73574-9_7 · Cited by 59

Cholinergic Neuronal Deficits in CADASIL

Kalaria, R. N., Keverne, J., Chuang, W., Low, R., Ziabreva, I., Court, J. A., Oakley, A. E., Wee, P., Low, C. R., Ziabreva, P. I., et al. (2015) · Cited by 59

Acetazolamide for the treatment of migraine with aura in CADASIL

Forteza, A. M., Brozman, B., Rabinstein, A. A., Romano, J. G., & Bradley, W. G. (2001) · Neurology · doi:10.1212/wnl.57.11.2144 · Cited by 58

Two novel HTRA1 mutations in a European CARASIL patient

Bianchi, S., Palma, C. D., Gallus, G. N., Taglia, I., Poggiani, A., Rosini, F., Rufa, A., Muresanu, D. F., Cerase, A., Dotti, M. T., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000202 · Cited by 57

Impaired Endothelial Function of Forearm Resistance Arteries in CADASIL Patients

Stenborg, A., Kalimo, H., Viitanen, M. H., Terént, A., & Lind, L. (2007) · Stroke · doi:10.1161/strokeaha.107.490029 · Cited by 57

Familial Unusual Encephalopathy of Binswanger's Type without Hypertension

Maeda, S., Nakayama, H., Isaka, K., Aihara, Y., & Nemoto, S. (1976) · Psychiatry and Clinical Neurosciences · doi:10.1111/j.1440-1819.1976.tb00119.x · Cited by 57

Detection of the founder effect in Finnish CADASIL families

Mykkänen, K., Savontaus, M., Juvonen, V., Sistonen, P., Tuisku, S., Tuominen, S., Penttinen, M. T., Lundkvist, J., Viitanen, M. H., Kalimo, H., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201221 · Cited by 54

Mouse Notch 3 Expression in the Pre- and Postnatal Brain: Relationship to the Stroke and Dementia Syndrome CADASIL

Prakash, N., Hansson, E. M., Betsholtz, C., Mitsiadis, T. A., & Lendahl, U. (2002) · Experimental Cell Research · doi:10.1006/excr.2002.5544 · Cited by 52

Cognition in CADASIL

Dichgans, M. (2008) · Stroke · doi:10.1161/strokeaha.108.534412 · Cited by 51

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL

Haritunians, T. (2005) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2004.051854 · Cited by 51

Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue

Mizuno, T., Muranishi, M., Torugun, T., Tango, H., Nagakane, Y., Kudeken, T., Kawase, Y., Kawabe, K., Oshima, F., Yaoi, T., et al. (2008) · Internal Medicine · doi:10.2169/internalmedicine.47.1391 · Cited by 49

Cerebral hemorrhages in CADASIL: Report of four cases and a brief review

Rinnoci, V., Nannucci, S., Valenti, R., Donnini, I., Bianchi, S., Pescini, F., Dotti, M. T., Federico, A., Inzitari, D., & Pantoni, L. (2013) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2013.04.002 · Cited by 49

Ophthalmologic Findings in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Roine, S., Harju, M. P., Kivelä, T., Pöyhönen, M., Nikoskelainen, E. K., Tuisku, S., Kalimo, H., Viitanen, M. H., & Summanen, P. A. (2006) · Ophthalmology · doi:10.1016/j.ophtha.2006.03.030 · Cited by 49

Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation

Mykkänen, K., Junna, M., Amberla, K., Bronge, L., Kääriäinen, H., Pöyhönen, M., Kalimo, H., & Viitanen, M. H. (2009) · Stroke · doi:10.1161/strokeaha.108.528661 · Cited by 49

Cholinergic Neuronal Deficits in CADASIL

Keverne, J. S., Low, W. C. R., Ziabreva, I., Court, J. A., Oakley, A. E., & Kalaria, R. N. (2006) · Stroke · doi:10.1161/01.str.0000251787.90695.05 · Cited by 48

CADASIL-causing mutations do not alter Notch3 receptor processing and activation

Low, W.-C., Santa, Y., Takahashi, K., Tabira, T., & Kalaria, R. N. (2006) · Neuroreport · doi:10.1097/01.wnr.0000223394.66951.48 · Cited by 47

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: decrease in regional cerebral blood volume in hyperintense subcortical lesions inversely correlates with disability and cognitive performance.

Bruening, R. D., Dichgans, M., Berchtenbreiter, C., Yousry, T. A., Seelos, K., Wu, R., Mayer, M., Brix, G., & Reiser, M. F. (2001) · PubMed Central · Cited by 47

A novel mutation of the high-temperature requirement A serine peptidase 1 ( HTRA1 ) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

Chen, Y., He, Z., Su, M., Li, L., Yang, H., & Zhang, X. (2013) · Journal of International Medical Research · doi:10.1177/0300060513480926 · Cited by 47

Prolonged Cerebral Transit Time in CADASIL

Liebetrau, M., Herzog, J., Kloss, C. U. A., Hamann, G. F., & Dichgans, M. (2002) · Stroke · doi:10.1161/hs0202.102949 · Cited by 45

Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism

Cognat, E., Baron‐Menguy, C., Domenga, V., Cléophax, S., Fouillade, C., Monet, M., Dewerchin, M. A., & Joutel, A. (2014) · Stroke · doi:10.1161/strokeaha.113.003339 · Cited by 44

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms

Liem, M. K., Oberstein, S. A. J. L., Vollebregt, M. J., Middelkoop, H. A. M., van der Grond, J., & den Enden, A. T. J. M. H.-V. (2008) · Journal of Neurology · doi:10.1007/s00415-009-0036-x · Cited by 44

Proteome Analysis of Cultivated Vascular Smooth Muscle Cells from a CADASIL Patient

Ihalainen, S., Soliymani, R., Iivanainen, E., Mykkänen, K., Sainio, A., Pöyhönen, M., Elenius, K., Järveläinen, H., Viitanen, M. H., Kalimo, H., et al. (2007) · Molecular Medicine · doi:10.2119/2006-00069.ihalainen · Cited by 43

Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene

Saiki, S., Sakai, K., Saiki, M., Kitagawa, Y., Umemori, T., Murata, K., Matsui, M., & Hirose, G. (2006) · Neurology · doi:10.1212/01.wnl.0000224758.52970.19 · Cited by 41

An extracellular region of Serrate is essential for ligand-induced cis-inhibition of Notch signaling

Fleming, R. J., Hori, K., Sen, A., Filloramo, G. V., Langer, J., Obar, R. A., Artavanis‐Tsakonas, S., & Maharaj-Best, A. C. (2013) · Development · doi:10.1242/dev.087916 · Cited by 39

Scanning Laser Doppler Flowmetry Shows Reduced Retinal Capillary Blood Flow in CADASIL

Harju, M. P., Tuominen, S., Summanen, P. A., Viitanen, M. H., Pöyhönen, M., Nikoskelainen, E. K., Kalimo, H., & Kivelä, T. (2004) · Stroke · doi:10.1161/01.str.0000145048.94499.b9 · Cited by 37

Exon-Skipping Therapy: A Roadblock, Detour, or Bump in the Road?

Hoffman, E. P., & McNally, E. M. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3008873 · Cited by 37

Characteristic Features of in vivo Skin Microvascular Reactivity in CADASIL

Gobron, C., Vahedi, K., Vicaut, É., Stücker, O., Laemmel, E., Baudry, N., Bousser, M., & Chabriat, H. (2006) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/sj.jcbfm.9600356 · Cited by 36

Role of Electron Microscopy in the Diagnosis of Cadasil Syndrome: A Study of 32 Patients

Morroni, M., Marzioni, D., Ragno, M., Bella, P. D., Cartechini, E., Pianese, L., Lorenzi, T., Castellucci, M., & Scarpelli, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0065482 · Cited by 36

Neurologic symptoms are common during gestation and puerperium in CADASIL

Roine, S., Pöyhönen, M., Timonen, S., Tuisku, S., Marttila, R. J., Sulkava, R. O., Kalimo, H., & Viitanen, M. H. (2005) · Neurology · doi:10.1212/01.wnl.0000158655.71323.8a · Cited by 36

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

Scholefield, J., Watson, L. M., Smith, D. C., Greenberg, J., & Wood, M. J. A. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.39 · Cited by 35

Transcriptome Analysis for Notch3 Target Genes Identifies Grip2 as a Novel Regulator of Myogenic Response in the Cerebrovasculature

Fouillade, C., Baron‐Menguy, C., Domenga, V., Thibault-Carpentier, C., Takamiya, K., Huganir, R. L., & Joutel, A. (2012) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.112.251736 · Cited by 35

CADASIL Mutations and shRNA Silencing of NOTCH3 Affect Actin Organization in Cultured Vascular Smooth Muscle Cells

Tikka, S., Ng, Y. P., Maio, G. D., Mykkänen, K., Siitonen, M., Lepikhova, T., Pöyhönen, M., Viitanen, M. H., Virtanen, I., Kalimo, H., et al. (2012) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.2012.123 · Cited by 35

“CADASIL coma” in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation

Ragno, M., Pianese, L., Morroni, M., Cacchiò, G., Manca, A., Marzio, F. D., Silvestri, S., Miceli, C., Scarcella, M., ONOFRJ, M. C., et al. (2013) · Neurological Sciences · doi:10.1007/s10072-013-1418-5 · Cited by 34

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain

Soong, B., Liao, Y., Tu, P., Tsai, P., Lee, I., Chung, C., & Lee, Y. (2013) · Journal of the Chinese Medical Association · doi:10.1016/j.jcma.2013.03.002 · Cited by 34

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11‐year‐old male

Granild‐Jensen, J. B., Jensen, U. B., Schwartz, M., & HANSEN, U. S. (2009) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2008.03241.x · Cited by 30

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Chabriat, H., & Bousser, M. (2008) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)01261-4 · Cited by 29

A Novel Mutation in the HTRA1 Gene Identified in Chinese CARASIL Pedigree

Wang, X., Li, C., Guo, H., & Cao, B. (2012) · CNS Neuroscience & Therapeutics · doi:10.1111/j.1755-5949.2012.00373.x · Cited by 29

Childhood-Onset CADASIL: Clinical, Imaging, and Neurocognitive Features

Hartley, J. N., Westmacott, R., Decker, J., Shroff, M. M., & Yoon, G. (2010) · Journal of Child Neurology · doi:10.1177/0883073810361382 · Cited by 29

Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Dong, H., Blaivas, M., & Wang, M. M. (2012) · Brain Research · doi:10.1016/j.brainres.2012.03.037 · Cited by 29

Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL

Peters, N., Freilinger, T. M., Opherk, C., Pfefferkorn, T., & Dichgans, M. (2007) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2007.04.015 · Cited by 27

Homozygosity and severity of phenotypic presentation in a CADASIL family

Vinciguerra, C., Rufa, A., Bianchi, S., Sperduto, A., Santis, M. D., Malandrini, A., Dotti, M. T., & Federico, A. (2013) · Neurological Sciences · doi:10.1007/s10072-013-1580-9 · Cited by 26

Spontaneous intracerebral hemorrhage in CADASIL

Lian, L., Li, D., Xue, Z., Liang, Q., Xu, F., Kang, H., Liu, X., & Zhu, S. (2013) · The Journal of Headache and Pain · doi:10.1186/1129-2377-14-98 · Cited by 26

Screening for NOTCH3 Gene Mutations Among 151 Consecutive Korean Patients with Acute Ischemic Stroke

Choi, J. C., Lee, K.-H., Song, S., Lee, J. S., Kang, S., & Kang, J. (2011) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2011.10.013 · Cited by 22

Multiple Simultaneous Cerebral Infarctions in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Gobron, C., Viswanathan, A., Bousser, M., & Chabriat, H. (2006) · Cerebrovascular Diseases · doi:10.1159/000095287 · Cited by 22

Electrocardiogram in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients Without Any Clinical Evidence of Coronary Artery Disease

Cumurciuc, R., Henry, P., Gobron, C., Vicaut, É., Bousser, M., Chabriat, H., & Vahedi, K. (2006) · Stroke · doi:10.1161/01.str.0000209242.68844.20 · Cited by 22

Mutation in htra1 gene in a patient with degenerated spine as a component of carasil syndrome

Bayraklı, F., Balaban, H., Gürelik, M., Hizmetli, S., & Topaktas, S. A. (2012) · Turkish Neurosurgery · doi:10.5137/1019-5149.jtn.6226-12.1 · Cited by 19

CADASIL: The Most Common Hereditary Subcortical Vascular Dementia

Kalimo, H., Miao, Q., Tikka, S., Mykkänen, K., Junna, M., Roine, S., Viitanen, M. H., Pöyhönen, M., & Baumann, M. (2008) · Future Neurology · doi:10.2217/14796708.3.6.683 · Cited by 16

Neuroimaging of Cerebral Small Vessel Disease

Salamon, N. (2014) · Brain Pathology · doi:10.1111/bpa.12179 · Cited by 15

Transendocytosis is impaired in CADASIL-mutant NOTCH3

Watanabe-Hosomi, A., Watanabe, Y., Tanaka, M., Nakagawa, M., & Mizuno, T. (2011) · Experimental Neurology · doi:10.1016/j.expneurol.2011.10.020 · Cited by 15

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

Mazzei, R., Guidetti, D., Ungaro, C., Conforti, F. L., Muglia, M., Cenacchi, G., Lanza, P. L., Patitucci, A., Sprovieri, T., Riguzzi, P., et al. (2007) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2007.128009 · Cited by 13

Scientific correspondence

Miao, Q., Kalimo, H., Bogdanović, N., Kostulas, K., Börjesson‐Hanson, A., & Viitanen, M. H. (2006) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2006.00746.x · Cited by 10

Accumulation of plasma proteins in Purkinje cells as an indicator of blood-brain barrier breakdown

Ikegaya, H., Heino, J., Laaksonen, H., Toivonen, S., Kalimo, H., & Saukko, P. J. (2004) · Forensic Science International · doi:10.1016/j.forsciint.2004.06.024 · Cited by 9

An Unusual Case of Elderly-Onset Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) With Multiple Cerebrovascular Risk Factors

Watanabe, M., Adachi, Y., Jackson, M., Yamamoto‐Watanabe, Y., Wakasaya, Y., Shirahama, I., Takamura, A., Matsubara, E., Kawarabayashi, T., & Shoji, M. (2010) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2010.05.008 · Cited by 8

Letter by Moccia et al Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism”

Moccia, M., Penco, S., & Barone, P. (2014) · Stroke · doi:10.1161/strokeaha.114.005593 · Cited by 3

Response to Letter Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism”

Cognat, E., Hervé, D., & Joutel, A. (2014) · Stroke · doi:10.1161/strokeaha.114.005616 · Cited by 3

Clinical manifestations and neuroradiological findings of CARASIL with a novel mutation

Shibata, M. (2012) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.52.1363 · Cited by 1

Untitled work

Cann, S. A. H., Netten, J. P. V., & Netten, C. V. (2000) · Pure Amsterdam UMC · doi:10.1002/1531-8249(200003)47:3

Blood-Brain Barrier: From Physiology to Disease and Back

Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,312

White matter hyperintensities, cognitive impairment and dementia: an update

Prins, N. D., & Scheltens, P. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2015.10 · Cited by 1,284

Understanding the role of the perivascular space in cerebral small vessel disease

Brown, R., Benveniste, H., Black, S. E., Charpak, S., Dichgans, M., Joutel, A., Nedergaard, M., Smith, K. J., Zloković, B. V., & Wardlaw, J. M. (2018) · Cardiovascular Research · doi:10.1093/cvr/cvy113 · Cited by 346

Pathophysiology and probable etiology of cerebral small vessel disease in vascular dementia and Alzheimer’s disease

Inoue, Y., Shue, F., Bu, G., & Kanekiyo, T. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00640-5 · Cited by 380

Cerebral Small Vessel Disease: A Review Focusing on Pathophysiology, Biomarkers, and Machine Learning Strategies

Cuadrado‐Godia, E., Dwivedi, P., Sharma, S., Ois, Á., Roquer, J., Balcells, M., Laird, J. R., Turk, M., Suri, H. S., Nicolaides, A. N., et al. (2018) · Journal of Stroke · doi:10.5853/jos.2017.02922 · Cited by 297

CADASIL: a Common Form of Hereditary Arteriopathy Causing Brain Infarcts and Dementia

Kalimo, H., Ruchoux, M. M., Viitanen, M. H., & Kalaria, R. N. (2002) · Brain Pathology · doi:10.1111/j.1750-3639.2002.tb00451.x · Cited by 262

CADASIL

Chabriat, H. (2017) · Primer on Cerebrovascular Diseases · doi:10.1016/b978-0-12-803058-5.00122-3 · Cited by 1

CADASIL: molecular studies on the most common hereditary vascular dementing disorder

Tikka, S. (2009) · Työväentutkimus Vuosikirja

CADASIL: (small vessel cerebral disease): From bed to bench and contrary

Federico, A. (2009) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.02.022

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Chabriat, H. (2024) · Springer eBooks · doi:10.1007/978-3-031-41777-1_6