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 · see citing works

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 · see citing works

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 · see citing works

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 729 · see citing works

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 698 · see citing works

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 679 · see citing works

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 · see citing works

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 · see citing works

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 610 · see citing works

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 601 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 265 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 229 · see citing works

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

Singhal, S. (2004) · Brain · doi:10.1093/brain/awh223 · Cited by 220 · see citing works

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 220 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 202 · see citing works

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 197 · see citing works

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 · see citing works

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 · see citing works

Vascular fibrosis in atherosclerosis

Lan, T.-H., Huang, X., & Tan, H. (2013) · Cardiovascular Pathology · doi:10.1016/j.carpath.2013.01.003 · Cited by 164 · see citing works

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 164 · see citing works

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 · see citing works

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 159 · see citing works

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 157 · see citing works

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 142 · see citing works

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 · see citing works

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 · see citing works

LTBPs, more than just an escort service

Todorović, V., & Rifkin, D. B. (2012) · Journal of Cellular Biochemistry · doi:10.1002/jcb.23385 · Cited by 140 · see citing works

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 137 · see citing works

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 · see citing works

Apathy

Reyes, S., Viswanathan, A. C., Godin, O., Dufouil, C., Benisty, S., Hernandez, K., Kurtz, A., Jouvent, E., O'Sullivan, M., Czernecki, V., et al. (2009) · Neurology · doi:10.1212/01.wnl.0000344166.03470.f8 · Cited by 125 · see citing works

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 120 · see citing works

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 · see citing works

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 · see citing works

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× · see citing works

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 114 · see citing works

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 114 · see citing works

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 112 · see citing works

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 109 · see citing works

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 · see citing works

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 106 · see citing works

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 · see citing works

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 · see citing works

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 97 · see citing works

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 94 · see citing works

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 91 · see citing works

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 89 · see citing works

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 89 · see citing works

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 87 · see citing works

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 87 · see citing works

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 86 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 81 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 68 · see citing works

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 · see citing works

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 · see citing works

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 64 · see citing works

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 · see citing works

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 · see citing works

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

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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 · see citing works

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 58 · see citing works

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 · see citing works

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 · see citing works

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 57 · see citing works

Familial Unusual Encephalopathy of Binswanger's Type without Hypertension

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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 · see citing works

Cognition in CADASIL

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

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 50 · see citing works

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 · see citing works

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 49 · see citing works

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

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

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 · see citing works

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 48 · see citing works

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.

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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 46 · see citing works

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 45 · see citing works

Prolonged Cerebral Transit Time in CADASIL

Martin Liebetrau, A., Herzog, J., Kloss, C. U. A., Hamann, G. F., & Dichgans, M. (2002) · Stroke · doi:10.1161/hs0202.102949 · Cited by 44 · see citing works

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 43 · see citing works

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 · see citing works

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 42 · see citing works

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 42 · see citing works

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 · see citing works

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 38 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 35 · see citing works

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 34 · see citing works

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 34 · see citing works

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 33 · see citing works

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 33 · see citing works

“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 32 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 26 · see citing works

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 · see citing works

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 25 · see citing works

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 · see citing works

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 · see citing works

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 21 · see citing works

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 · see citing works

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 · see citing works

Neuroimaging of Cerebral Small Vessel Disease

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

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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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 2,294 · see citing works

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 · see citing works

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 342 · see citing works

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 356 · see citing works

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 291 · see citing works

Consensus statement for diagnosis of subcortical small vessel disease

Rosenberg, G. A., Wallin, A., Wardlaw, J. M., Markus, H. S., Montaner, J., WOLFSON, L. I., Iadecola, C., Zloković, B. V., Joutel, A., Dichgans, M., et al. (2015) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.2015.172 · Cited by 224 · see citing works

Pathogenesis of white matter changes in cerebral small vessel diseases: beyond vessel-intrinsic mechanisms

Joutel, A., & Chabriat, H. (2017) · Clinical Science · doi:10.1042/cs20160380 · Cited by 135 · see citing works

Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?

Joutel, A., Haddad, I., Ratelade, J., & Nelson, M. T. (2015) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.2015.62 · Cited by 126 · see citing works

Cerebral small vessel disease alters neurovascular unit regulation of microcirculation integrity involved in vascular cognitive impairment

Yang, Q. Z., Wei, X., Deng, B., Chang, Z., Jin, D., Huang, Y., Zhang, J. H., Yenari, M. A., Jin, K., & Wang, Q. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105750 · Cited by 132 · see citing works

The pathogenesis of cerebral small vessel disease and vascular cognitive impairment

Markus, H. S., & Joutel, A. (2025) · Physiological Reviews · doi:10.1152/physrev.00028.2024 · Cited by 130 · see citing works

Revisiting the blood-brain barrier: A hard nut to crack in the transportation of drug molecules

Harilal, S., Jose, J., Parambi, D. G. T., Kumar, R., Unnikrishnan, M. K., Uddin, M. S., Mathew, G. E., Pratap, R., Marathakam, A., & Mathew, B. (2020) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2020.03.018 · Cited by 124 · see citing works

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Lesnik Oberstein, S. A. M. J., & van der Knaap, M. S. (2016) · Neurology · doi:10.1212/wnl.0000000000003251 · Cited by 111 · see citing works

Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer’s disease

Hondius, D., Eigenhuis, K. N., Morrema, T. H. J., van der Schors, R. C., van Nierop, P., Bugiani, M., Li, K. W., Hoozemans, J. J. M., Smit, A. B., & Rozemüller, A. J. M. (2018) · Acta Neuropathologica Communications · doi:10.1186/s40478-018-0540-2 · Cited by 110 · see citing works

Role of physical exercise in Alzheimer's disease

Chen, W., Zhang, X., & Huang, W. (2016) · Biomedical Reports · doi:10.3892/br.2016.607 · Cited by 106 · see citing works

Clinical and Genetic Aspects of CADASIL

Mizuno, T., Mizuta, I., Watanabe-Hosomi, A., Mukai, M., & Koizumi, T. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00091 · Cited by 97 · see citing works

Review: Vascular dementia: clinicopathologic and genetic considerations

Vinters, H. V., Zarow, C., Borys, E., Whitman, J. D., Tung, S., Ellis, W. G., Zheng, L., & Chui, H. C. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12472 · Cited by 89 · see citing works

The pathobiology of vascular malformations: insights from human and model organism genetics

Wetzel‐Strong, S. E., Detter, M. R., & Marchuk, D. A. (2016) · The Journal of Pathology · doi:10.1002/path.4844 · Cited by 83 · see citing works

CADASIL brain vessels show a HTRA1 loss-of-function profile

Zellner, A., Scharrer, E. M., Arzberger, T., Oka, C., Domenga, V., Joutel, A., Lichtenthaler, S. F., Müller, S. A., Dichgans, M., & Haffner, C. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1853-8 · Cited by 83 · see citing works

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Ashrafi, M. R., Amanat, M., Garshasbi, M., Kameli, R., Nilipour, Y., Heidari, M., Rezaei, Z., & Tavasoli, A. R. (2019) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2020.1699060 · Cited by 80 · see citing works

Genetics of Cerebral Small Vessel Disease

Marini, S., Anderson, C. D., & Rosand, J. M. (2019) · Stroke · doi:10.1161/strokeaha.119.024151 · Cited by 79 · see citing works

Cerebrovascular disease

Portegies, M. L. P., Koudstaal, P. J., & Ikram, M. A. (2016) · Handbook of clinical neurology · doi:10.1016/b978-0-12-802973-2.00014-8 · Cited by 80 · see citing works

CADASIL: new advances in basic science and clinical perspectives

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CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches

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The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations

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MRI Natural History of the Leukodystrophy Vanishing White Matter

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Autophagy-lysosomal defect in human CADASIL vascular smooth muscle cells

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Loss of the serine protease HTRA1 impairs smooth muscle cells maturation

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Value of Quantitative Susceptibility Mapping in Clinical Neuroradiology

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Blood biomarkers in a mouse model of CADASIL

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Vascular Inflammation Risk Factors in Retinal Disease

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Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke

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Investigating diagnostic sequencing techniques for CADASIL diagnosis

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Vascular Dementia and Crosstalk Between the Complement and Coagulation Systems

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Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease

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Recognizing CADASIL: a Secondary Cause of Migraine with Aura

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Proteostasis in Cerebral Small Vessel Disease

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Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases

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Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGF β expression

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Stem Cell Factor in Combination with Granulocyte Colony-Stimulating Factor reduces Cerebral Capillary Thrombosis in a Mouse Model of CADASIL

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A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?

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Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review

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A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene

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IGF1R deficiency in vascular smooth muscle cells impairs myogenic autoregulation and cognition in mice

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Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL

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Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report

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Treating chronic migraine in CADASIL with calcitonin gene-related peptide receptor antagonism

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Insulin-Independent and Dependent Glucose Transporters in Brain Mural Cells in CADASIL

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A novel heterozygous HTRA1 mutation in an Asian family with CADASIL‐like disease

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Modeling of age-related neurological disease: utility of zebrafish

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CADASIL mutant NOTCH3(R90C) decreases the viability of HS683 oligodendrocytes via apoptosis

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