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Select item 105690591.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster

Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.

Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003

PMCID:: PMC10569059

Article PDF–2.0M

Select item 101713822.

Symptomatic Developmental Venous Anomaly: State-of-the-Art Review on Genetics, Pathophysiology, and Imaging Approach to Diagnosis

C.C.-T. Hsu, T. Krings

AJNR Am J Neuroradiol. 2023 May; 44(5): 498–504. doi: 10.3174/ajnr.A7829

PMCID:: PMC10171382

Article PDF–2.9M

Select item 95631243.

DNA methylation signatures on vascular differentiation genes are aberrant in vessels of human cerebral arteriovenous malformation nidus

Jaya Mary Thomas, Dhakshmi Sasankan, Mathew Abraham, Sumi Surendran, Chandrasekharan C. Kartha, Arumugam Rajavelu

Clin Epigenetics. 2022; 14: 127. Published online 2022 Oct 13. doi: 10.1186/s13148-022-01346-z

PMCID:: PMC9563124

Article PDF–1.6M

Select item 89224764.

Cerebral Cavernous Malformation: From Mechanism to Therapy

Daniel A. Snellings, Courtney C. Hong, Aileen A. Ren, Miguel A. Lopez-Ramirez, Romuald Girard, Abhinav Srinath, Douglas A. Marchuk, Mark H Ginsberg, Issam A. Awad, Mark L. Kahn

Circ Res. Author manuscript; available in PMC 2022 Jun 25.

Published in final edited form as: Circ Res. 2021 Jun 25; 129(1): 195–215. Published online 2021 Jun 24. doi: 10.1161/CIRCRESAHA.121.318174

Correction in:: Circ Res. 2021 Aug 6; 129(4): e101.

PMCID:: PMC8922476

Article PDF–1.9M

Select item 87514085.

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA

Sarah E. Sheppard, Victoria R. Sanders, Abhay Srinivasan, Laura S. Finn, Denise Adams, Andrew Elton, Catherine Amlie-Lefond, Zoe Nelson, Victoria Dmyterko, Dana Jensen, Kaitlyn Zenner, Jonathan Perkins, James T. Bennett

Cold Spring Harb Mol Case Stud. 2021 Dec; 7(6): a006147. doi: 10.1101/mcs.a006147

PMCID:: PMC8751408

Article PDF–3.0M

Select item 83382956.

Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

C M Putman, J C Chaloupka, R K Fulbright, I A Awad, R I White, Jr, P B Fayad

AJNR Am J Neuroradiol. 1996 Oct; 17(9): 1733-42.

PMCID:: PMC8338295

Summary PDF–550K

Select item 82451747.

Astrocytes propel neurovascular dysfunction during cerebral cavernous malformation lesion formation

Miguel Alejandro Lopez-Ramirez, Catherine Chinhchu Lai, Shady Ibrahim Soliman, Preston Hale, Angela Pham, Esau J. Estrada, Sara McCurdy, Romuald Girard, Riya Verma, Thomas Moore, Rhonda Lightle, Nicholas Hobson, Robert Shenkar, Orit Poulsen, Gabriel G. Haddad, Richard Daneman, Brendan Gongol, Hao Sun, Frederic Lagarrigue, Issam A. Awad, Mark H. Ginsberg

J Clin Invest. 2021 Jul 1; 131(13): e139570. Published online 2021 Jul 1. doi: 10.1172/JCI139570

PMCID:: PMC8245174

Article PDF–14M

Select item 82061588.

Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation

Jiancong Weng, Yingxi Yang, Dong Song, Ran Huo, Hao Li, Yiyun Chen, Yoonhee Nam, Qiuxia Zhou, Yuming Jiao, Weilun Fu, Zihan Yan, Jie Wang, Hongyuan Xu, Lin Di, Jie Li, Shuo Wang, Jizong Zhao, Jiguang Wang, Yong Cao

Am J Hum Genet. 2021 May 6; 108(5): 942–950. Published online 2021 Apr 22. doi: 10.1016/j.ajhg.2021.04.005

PMCID:: PMC8206158

Article PDF–3.2M

Select item 81748609.

Prominent Basal Emissary Foramina in Syndromic Craniosynostosis: Correlation with Phenotypic and Molecular Diagnoses

Caroline D. Robson, John B. Mulliken, Richard L. Robertson, Mark R. Proctor, Daniela Steinberger, Patrick D. Barnes, Alicia McFarren, Ulrich Müller, David Zurakowski

AJNR Am J Neuroradiol. 2000 Oct; 21(9): 1707–1717.

PMCID:: PMC8174860

Article PDF–248K

Select item 814871710.

Malformation of Cortical and Vascular Development in One Family with Parietal Foramina Determined by an ALX4 Homeobox Gene Mutation

Marcelo Valente, Kette D. Valente, Sofia S. M. Sugayama, Chong Ae Kim

AJNR Am J Neuroradiol. 2004 Nov; 25(10): 1836–1839.

PMCID:: PMC8148717

Article PDF–165K

Select item 811908311.

Susceptibility-Weighted Imaging for the Evaluation of Patients with Familial Cerebral Cavernous Malformations: A Comparison with T2-Weighted Fast Spin-Echo and Gradient-Echo Sequences

J.M. de Souza, R.C. Domingues, L.C.H. Cruz, Jr., F.S. Domingues, T. Iasbeck, E.L. Gasparetto

AJNR Am J Neuroradiol. 2008 Jan; 29(1): 154–158. doi: 10.3174/ajnr.A0748

PMCID:: PMC8119083

Article PDF–402K

Select item 797519512.

Endovascular Management of Vein of Galen Aneurysmal Malformations Presenting in the Neonatal Period

Peter J. Mitchell, Jeffrey V. Rosenfeld, Peter Dargaville, Peter Loughnan, Michael R. Ditchfield, Geoffrey Frawley, Brian M. Tress

AJNR Am J Neuroradiol. 2001 Aug; 22(7): 1403–1409.

PMCID:: PMC7975195

Article PDF–756K

Select item 797388113.

Cranial MR Imaging of Osteopetrosis

Joel K. Curé, Lyndon L. Key, David D. Goltra, Pamela VanTassel

AJNR Am J Neuroradiol. 2000 Jun; 21(6): 1110–1115.

PMCID:: PMC7973881

Article PDF–343K

Select item 779907614.

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations

Louise Dunphy, Ambika Talwar, Neil Patel, Alex Evans

BMJ Case Rep. 2021; 14(1): e238385. Published online 2021 Jan 8. doi: 10.1136/bcr-2020-238385

PMCID:: PMC7799076

Article PDF–517K

Select item 746077415.

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report

Shih-Ying Chen, Wei-Che Lin, Yung-Yee Chang, Tsu-Kung Lin, Min-Yu Lan

BMC Neurol. 2020; 20: 329. Published online 2020 Sep 1. doi: 10.1186/s12883-020-01910-1

PMCID:: PMC7460774

Article PDF–2.5M

Select item 745057716.

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

Davide Villa, Claudia Cinnante, Gloria Valcamonica, Giulia Manenti, Silvia Lanfranconi, Annalisa Colombi, Isabella Ghione, Maria Cristina Saetti, Mario D’Amico, Sara Bonato, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi

BMC Neurol. 2020; 20: 316. Published online 2020 Aug 26. doi: 10.1186/s12883-020-01890-2

PMCID:: PMC7450577

Article PDF–1.2M

Select item 741073917.

Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome

S.I. Shiran, L. Ben-Sira, R. Elhasid, J. Roth, U. Tabori, M. Yalon, S. Constantini, R. Dvir

AJNR Am J Neuroradiol. 2018 Oct; 39(10): 1943–1946. doi: 10.3174/ajnr.A5766

PMCID:: PMC7410739

Article PDF–407K

Select item 729940618.

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice

Jia Li, Yang Zhao, Jaesung Choi, Ka Ka Ting, Paul Coleman, Jinbiao Chen, Victoria C. Cogger, Li Wan, Zhongsong Shi, Thorleif Moller, Xiangjian Zheng, Mathew A. Vadas, Jennifer R. Gamble

PLoS Biol. 2020 Jun; 18(6): e3000734. Published online 2020 Jun 5. doi: 10.1371/journal.pbio.3000734

PMCID:: PMC7299406

Article PDF–3.1M

Select item 725462519.

Pathogenesis of non-hereditary brain arteriovenous malformation and therapeutic implications

Takahiro Ota, Masaki Komiyama

Interv Neuroradiol. 2020 Jun; 26(3): 244–253. Published online 2020 Feb 5. doi: 10.1177/1591019920901931

PMCID:: PMC7254625

Article

Select item 724716620.

Precision diagnosis and therapy of a case of brain abscesses associated with asymptomatic pulmonary arteriovenous fistulas

Lu-Yao Gao, Guang-Run Xu, Ting-Jun Dai

BMC Infect Dis. 2020; 20: 370. Published online 2020 May 24. doi: 10.1186/s12879-020-05092-6

PMCID:: PMC7247166

Article PDF–1.5M

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