Works about CADASIL syndrome

Results: 135

Detection of early neuronal damage in CADASIL patients by q-space MR imaging.

Published in:

Neuroradiology, 2013, v. 55, n. 3, p. 283, doi. 10.1007/s00234-012-1105-x

By:

Yamada, Kei;
Sakai, Koji;
Akazawa, Kentaro;
Sugimoto, Naozo;
Nakagawa, Masanori;
Mizuno, Toshiki

Publication type:

Article

An Unsuspecting Recurrent Cryptogenic Stroke: A Case Report.

Published in:

2021

By:

Sahadevan, Mahavishnu;
Sivaloganathan, Kushanthini;
Tung Yu Feng

Publication type:

Case Study

A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles.

Published in:

Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/431461

By:

Nakamura, Kuniyuki;
Ago, Tetsuro;
Tsuchimoto, Akihiro;
Noda, Nozomi;
Nakamura, Asako;
Ninomiya, Toshiharu;
Uchiumi, Takeshi;
Tsuruya, Kazuhiko;
Kamouchi, Masahiro;
Ooboshi, Hiroaki;
Kitazono, Takanari

Publication type:

Article

A Report of Accelerated Coronary Artery Disease Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Published in:

Case Reports in Cardiology, 2015, v. 2015, p. 1, doi. 10.1155/2015/167513

By:

Rubin, Courtney B.;
Hahn, Virginia;
Kobayashi, Taisei;
Litwack, Andrew

Publication type:

Article

BACE1 and SCD1 are associated with neurodegeneration.

Published in:

Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fnagi.2023.1194203

By:

Bedoya-Guzmán, Ferley A.;
Pacheco-Herrero, Mar;
Salomon-Cruz, Ivan Daniel;
Barrera-Sandoval, Angela Maria;
Gutierrez Vargas, Johanna Andrea;
Villamil-Ortiz, Javier Gustavo;
Lanau, Carlos Andres Villegas;
David Arias-Londoño, Julián;
Area-Gomez, Estela;
Cardona Gomez, Gloria Patricia

Publication type:

Article

Clinical and Radiological Features in CADASIL and NOTCH3-Negative Patients: A Multicenter Study from Turkey.

Published in:

European Neurology, 2014, v. 72, n. 3/4, p. 125, doi. 10.1159/000360530

By:

Ince, Birsen;
Benbir, Gulcin;
Siva, aksel;
Saip, Sabahattin;
Utku, Ufuk;
Celik, Yahya;
Necioglu-Orken, Dilek;
Ozturk, Serefnur;
afsar, Nazire;
aktan, Sevinc;
asil, Talip;
Bakac, Goksel;
Ekmekci, Hakan;
Gokce, Mustafa;
Krespi, Yakup;
Midi, Ipek;
Varlibas, Figen;
Citci-Yalcinkaya, Beyza;
Goksan, Baki;
Uluduz, Derya

Publication type:

Article

New insights into mechanisms of small vessel disease stroke from genetics.

Published in:

Clinical Science, 2017, v. 131, n. 7, p. 515, doi. 10.1042/CS20160825

By:

Tan, Rhea;
Traylor, Matthew;
Rutten-Jacobs, Loes;
Markus, Hugh

Publication type:

Article

A Case of CADASIL with NOTCH3 Gene Mutation Presenting with Focal Epileptic Seizure: A Case of CADASIL Presenting with Focal Epileptic Seizure.

Published in:

Archives of Epilepsy, 2023, v. 29, n. 1, p. 34, doi. 10.4274/ArchEpilepsy.2023.22025

By:

Uncu, Gülgün;
Algın, Demet İlhan;
Erdinç, Oğuz Osman;
Adapınar, Demet Özbabalık

Publication type:

Article

Diffusion Tensor Imaging to Map Brain Microstructural Changes in CADASIL.

Published in:

2017

By:

Mascalchi, Mario;
Pantoni, Leonardo;
Giannelli, Marco;
Valenti, Raffaella;
Bianchi, Andrea;
Pracucci, Giovanni;
Orsolini, Stefano;
Ciulli, Stefano;
Tessa, Carlo;
Poggesi, Anna;
Pescini, Francesca;
Inzitari, Domenico;
Diciotti, Stefano

Publication type:

journal article

Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Published in:

2017

By:

Carluccio, Maria;
Di Donato, Ilaria;
Pescini, Francesca;
Battaglini, Marco;
Bianchi, Silvia;
Valenti, Raffaella;
Nannucci, Serena;
Franci, Beatrice;
Stromillo, Maria;
De Stefano, Nicola;
Inzitari, Domenico;
Pantoni, Leonardo;
Nuti, Ranuccio;
Federico, Antonio;
Gonnelli, Stefano;
Dotti, Maria;
Carluccio, Maria Alessandra;
Stromillo, Maria Laura;
Dotti, Maria Teresa

Publication type:

journal article

Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.

Published in:

2016

By:

Ragno, Michele;
Sanguigni, Sandro;
Manca, Antonio;
Pianese, Luigi;
Paci, Cristina;
Berbellini, Alfonso;
Cozzolino, Valeria;
Gobbato, Roberto;
Peluso, Silvio;
Michele, Giuseppe;
De Michele, Giuseppe

Publication type:

journal article

Pathological gambling associated with CADASIL: an unusual manifestation.

Published in:

2015

By:

Plastino, Massimiliano;
Messina, Demetrio;
Cristiano, Dario;
Lombardo, Giuditta;
Bosco, Domenico

Publication type:

Case Study

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

Published in:

Neurological Sciences, 2015, v. 36, n. 8, p. 1387, doi. 10.1007/s10072-015-2121-5

By:

Cai, Bin;
Zeng, Jiabin;
Lin, Yi;
Lin, Yu;
Lin, WenPing;
Lin, Wei;
Li, Zhiwen;
Wang, Ning

Publication type:

Article

“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.

Published in:

Neurological Sciences, 2013, v. 34, n. 11, p. 1947, doi. 10.1007/s10072-013-1418-5

By:

Ragno, Michele;
Pianese, Luigi;
Morroni, Manrico;
Cacchiò, Gabriella;
Manca, Antonio;
Di Marzio, Fabio;
Silvestri, Serena;
Miceli, Cristina;
Scarcella, Maria;
Onofrj, Marco;
Trojano, Luigi

Publication type:

Article

First report of a Tunisian CADASIL patient.

Published in:

2013

By:

Ragno, Michele;
Nardi, Katia;
Manca, Antonio;
Morroni, Manrico;
Trojano, Luigi

Publication type:

Letter

Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients.

Published in:

Neurological Sciences, 2013, v. 34, n. 4, p. 553, doi. 10.1007/s10072-012-1174-y

By:

Formichi, Patrizia;
Radi, Elena;
Battisti, Carla;
Maio, Giuseppe;
Dotti, Maria;
Muresanu, Dafin;
Federico, Antonio

Publication type:

Article

Nuclear abnormalities in vascular myocytes in cerebral autosomal‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Published in:

Neuropathology, 2018, v. 38, n. 6, p. 601, doi. 10.1111/neup.12519

By:

Dziewulska, Dorota;
Nycz, Ewelina;
Rajczewska‐Oleszkiewicz, Cecylia;
Bojakowski, Jacek;
Sulejczak, Dorota

Publication type:

Article

Pericytes as a new target for pathological processes in CADASIL.

Published in:

Neuropathology, 2012, v. 32, n. 5, p. 515, doi. 10.1111/j.1440-1789.2011.01290.x

By:

Dziewulska, Dorota;
Lewandowska, Eliza

Publication type:

Article

CADASIL as a Multiple Sclerosis Mimic.

Published in:

2017

By:

Bouley, Andrew J.;
Yaghi, Shadi

Publication type:

Case Study

CADASIL presenting with spontaneous intracerebral hemorrhage: report of a case and description of the first family in Northern Greece.

Published in:

2016

By:

I., Koutroulou;
T., Karapanayiotides;
N., Grigoriadis;
D., Karacostas

Publication type:

Case Study

Severe white matter astrocytopathy in CADASIL.

Published in:

Brain Pathology, 2018, v. 28, n. 6, p. 832, doi. 10.1111/bpa.12621

By:

Hase, Yoshiki;
Chen, Aiqing;
Bates, Letitia L.;
Craggs, Lucinda J.L.;
Yamamoto, Yumi;
Gemmell, Elizabeth;
Oakley, Arthur E.;
Korolchuk, Viktor I.;
Kalaria, Raj N.

Publication type:

Article

CADASIL and CARASIL.

Published in:

2014

By:

Tikka, Saara;
Baumann, Marc;
Siitonen, Maija;
Pasanen, Petra;
Pöyhönen, Minna;
Myllykangas, Liisa;
Viitanen, Matti;
Fukutake, Toshio;
Cognat, Emmanuel;
Joutel, Anne;
Kalimo, Hannu

Publication type:

Other

Increased PKR level in human CADASIL brains.

Published in:

2018

By:

Cognat, Emmanuel;
Tible, Marion;
Methnani, Ilyes;
Chabriat, Hugues;
Adle-Biassette, Homa;
Hugon, Jacques;
Paquet, Claire

Publication type:

journal article

Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.

Published in:

Pediatric Radiology, 2013, v. 43, n. 9, p. 1227, doi. 10.1007/s00247-013-2658-5

By:

Benabu, Yves;
Beland, Mathieu;
Ferguson, Natasha;
Maranda, Bruno;
Boucher, Renee-Myriam

Publication type:

Article

Multifocal Cerebral and Bilateral Middle Cerebellar Peduncle Infarctions in CADASIL.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 4, p. 574, doi. 10.1017/cjn.2016.5

By:

Au, Kelvin;
Appireddy, Ramana;
Barber, Phil A.

Publication type:

Article

CADASIL with Multiorgan Involvement: a Complete Autopsy Examination Report.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 1, p. 202, doi. 10.1017/cjn.2015.240

By:

Sangle, Nikhil;
Baringer, J. Richard;
Majersik, Jennifer;
DeWitt, L. Dana

Publication type:

Article

Chinese guideline for the diagnosis and management of CADASIL (2022 edition): a protocol.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 11, p. 959, doi. 10.3969/j.issn.1672-6731.2023.11.002

By:

ZHU Yi-cheng

Publication type:

Article

Pathological changes and molecular-genetic mechanisms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 10, p. 828, doi. 10.3969/j.issn.1672-6731.2021.10.002

By:

SUN Yuan-jing;
FAN Yu-hua

Publication type:

Article

Clinical features of cognitive function in eight patients with hereditary cerebral small vessel disease.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 8, p. 559, doi. 10.3969/j.issn.1672-6731.2019.08.005

By:

CHEN Yuan;
ZHOU Yu-ying;
WANG Pan;
LI Pan;
LIU Li-ping;
LIU Hui;
ZHANG Hui-hong

Publication type:

Article

Cerebral Microbleeds, Hypertension, and Intracerebral Hemorrhage in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Published in:

Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00203

By:

Jung Seok Lee;
KeunHyuk Ko;
Jung-Hwan Oh;
Joon Hyuk Park;
Ho Kyu Lee;
Floriolli, David;
Paganini-Hill, Annlia;
Fisher, Mark

Publication type:

Article

Pregnancy in CADASIL.

Published in:

Acta Neurologica Scandinavica, 2017, v. 136, n. 6, p. 668, doi. 10.1111/ane.12784

By:

Donnini, I.;
Rinnoci, V.;
Nannucci, S.;
Valenti, R.;
Pescini, F.;
Mariani, G.;
Bianchi, S.;
Dotti, M. T.;
Federico, A.;
Inzitari, D.;
Pantoni, L.

Publication type:

Article

APOE and AGT in the Finnish p.Arg133Cys CADASIL population.

Published in:

Acta Neurologica Scandinavica, 2015, v. 132, n. 6, p. 430, doi. 10.1111/ane.12400

By:

Siitonen, M.;
Mykkänen, K.;
Pescini, F.;
Rovio, S.;
Kääriäinen, H.;
Baumann, M.;
Pöyhönen, M.;
Viitanen, M.

Publication type:

Article

Clinical, familial, and neuroimaging features of CADASIL-like patients.

Published in:

Acta Neurologica Scandinavica, 2015, v. 131, n. 1, p. 30, doi. 10.1111/ane.12284

By:

Nannucci, S.;
Pescini, F.;
Bertaccini, B.;
Bianchi, S.;
Ciolli, L.;
Valenti, R.;
Dotti, M. T.;
Federico, A.;
Inzitari, D.;
Pantoni, L.

Publication type:

Article

Changing clinical patterns and increasing prevalence in CADASIL.

Published in:

Acta Neurologica Scandinavica, 2014, v. 130, n. 3, p. 197, doi. 10.1111/ane.12266

By:

Moreton, F. C.;
Razvi, S. S. M.;
Davidson, R.;
Muir, K. W.

Publication type:

Article

CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships.

Published in:

PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157613

By:

Tan, Rhea Yan Ying;
Markus, Hugh Stephen

Publication type:

Article

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 9, p. 1964, doi. 10.3390/ijms18091964

By:

Muiño, Elena;
Gallego-Fabrega, Cristina;
Cullell, Natalia;
Torres, Nuria;
Fernández-Cadenas, Israel;
Carrera, Caty;
Montaner, Joan;
Krupinski, Jurek;
Roquer, Jaume

Publication type:

Article

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Published in:

Journal of Neurology, 2018, v. 265, n. 12, p. 2934, doi. 10.1007/s00415-018-9072-8

By:

on behalf of Lombardia GENS-group;
Bersano, Anna;
Boncoraglio, Giorgio Battista;
Parati, Eugenio Agostino;
Trobia, Nadia;
Mazucchelli, Franca;
Zarcone, Davide;
De Lodovici, Maria Luisa;
Bono, Giorgio;
Calloni, Maria Vittoria;
Perrone, Patrizia;
Bordo, Bianca Maria;
Motto, Cristina;
Agostoni, Elio;
Pezzini, Alessandro;
Padovani, Alessandro;
Micieli, Giuseppe;
Cavallini, Anna;
Molini, Graziella;
Sasanelli, Francesco

Publication type:

Article

A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?

Published in:

Journal of Neurology, 2018, v. 265, n. 6, p. 1338, doi. 10.1007/s00415-018-8844-5

By:

Schubert, V.;
Bender, B.;
Kinzel, M.;
Peters, N.;
Freilinger, T.

Publication type:

Article

Monogenic causes of stroke: now and the future.

Published in:

Journal of Neurology, 2015, v. 262, n. 12, p. 2601, doi. 10.1007/s00415-015-7794-4

By:

Tan, Rhea;
Markus, Hugh

Publication type:

Article

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

Published in:

2015

By:

Khaleeli, Zhaleh;
Jaunmuktane, Zane;
Beaufort, Nathalie;
Houlden, Henry;
Haffner, Christof;
Brandner, Sebastian;
Dichgans, Martin;
Werring, David

Publication type:

Letter

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Published in:

Journal of Neurology, 2015, v. 262, n. 1, p. 134, doi. 10.1007/s00415-014-7533-2

By:

Bianchi, Silvia;
Zicari, Enza;
Carluccio, Alessandra;
Donato, Ilaria;
Pescini, Francesca;
Nannucci, Serena;
Valenti, Raffaella;
Ragno, Michele;
Inzitari, Domenico;
Pantoni, Leonardo;
Federico, Antonio;
Dotti, Maria

Publication type:

Article

Presymptomatic genetic testing in CADASIL.

Published in:

Journal of Neurology, 2012, v. 259, n. 10, p. 2131, doi. 10.1007/s00415-012-6468-8

By:

Reyes, S.;
Kurtz, A.;
Hervé, D.;
Tournier-Lasserve, E.;
Chabriat, H.

Publication type:

Article

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Published in:

JAMA Network Open, 2019, v. 2, n. 3, p. e191350, doi. 10.1001/jamanetworkopen.2019.1350

By:

Patel, Devanshi;
Mez, Jesse;
Vardarajan, Badri N.;
Staley, Lyndsay;
Chung, Jaeyoon;
Zhang, Xiaoling;
Farrell, John J.;
Rynkiewicz, Michael J.;
Cannon-Albright, Lisa A.;
Teerlink, Craig C.;
Stevens, Jeffery;
Corcoran, Christopher;
Gonzalez Murcia, Josue D.;
Lopez, Oscar L.;
Mayeux, Richard;
Haines, Jonathan L.;
Pericak-Vance, Margaret A.;
Schellenberg, Gerard;
Kauwe, John S. K.;
Lunetta, Kathryn L.

Publication type:

Article

Cerebral Autosomal‐Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Syndrome, a Central Nervous System Vasculitis Mimic.

Published in:

2021

By:

Maheswaranathan, Mithu;
Buckley, Anne F.;
Cutler, Andrew B.;
Criscione‐Schreiber, Lisa;
Shah, Ankoor

Publication type:

Case Study

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0268-1

By:

Rutten, Julie W.;
Klever, Roselin R.;
Hegeman, Ingrid M.;
Poole, Dana S.;
Dauwerse, Hans G.;
Broos, Ludo A. M.;
Breukel, Cor;
Aartsma-Rus, Annemieke M.;
Verbeek, J. Sjef;
van der Weerd, Louise;
van Duinen, Sjoerd G.;
van den Maagdenberg, Arn M. J. M.;
Oberstein, Saskia A. J. Lesnik

Publication type:

Article

Poster 449: Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Mimicking Multiple Sclerosis: A Case Report.

Published in:

2010

By:

Siu, Gilbert;
Manne, Barkha B.;
Nissley, Frederick

Publication type:

Abstract

Poster 381: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) ‐ A Rare Diagnosis in Siblings: A Case Series.

Published in:

2009

By:

Boiano, Maria A.;
Galway, Kathleen;
Inzerillo, James M.;
Shukla, Dinesh;
Zhang, Jun

Publication type:

Abstract

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190878

By:

Nannucci, Serena;
Rinnoci, Valentina;
Pracucci, Giovanni;
MacKinnon, Andrew D.;
Pescini, Francesca;
Adib-Samii, Poneh;
Bianchi, Silvia;
Dotti, Maria Teresa;
Federico, Antonio;
Inzitari, Domenico;
Markus, Hugh S.;
Pantoni, Leonardo

Publication type:

Article

Clinical spectrum in CADASIL family with a new mutation.

Published in:

Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2013, v. 157, n. 4, p. 379, doi. 10.5507/bp.2013.055

By:

Peisker, Tomas;
Musil, Libor;
Hrebicek, Martin;
Vlaskova, Hana;
Cihelkova, Ilona;
Bartos, Ales

Publication type:

Article

Depressive symptoms as a predictor of quality of life in cerebral small vessel disease, acting independently of disability; a study in both sporadic small vessel disease and CADASIL.

Published in:

International Journal of Stroke, 2013, v. 8, n. 7, p. 510, doi. 10.1111/j.1747-4949.2011.00763.x

By:

Brookes, Rebecca L.;
Willis, Thomas A.;
Patel, Bhavini;
Morris, Robin G.;
Markus, Hugh S.

Publication type:

Article