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Showing 1 to 12 of 16 entries
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Sturge-weber syndrome.

Current treatment options in neurology

Bachur CD, Comi AM.
PMID: 23907585
Curr Treat Options Neurol. 2013 Oct;15(5):607-17. doi: 10.1007/s11940-013-0253-6.

OPINION STATEMENT: We try to see the babies prior to the onset of symptoms so that their parents can receive anticipatory guidance regarding seizures and how to recognize and respond to them and so that proper referrals to ophthalmology...

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Bachur CD, Comi AM. Sturge-weber syndrome. Curr Treat Options Neurol. 2013;15(5):607-17doi: 10.1007/s11940-013-0253-6.
Bachur, C. D., & Comi, A. M. (2013). Sturge-weber syndrome. Current treatment options in neurology, 15(5), 607-17. https://doi.org/10.1007/s11940-013-0253-6
Bachur, Catherine D, and Comi, Anne M. "Sturge-weber syndrome." Current treatment options in neurology vol. 15,5 (2013): 607-17. doi: https://doi.org/10.1007/s11940-013-0253-6
Bachur CD, Comi AM. Sturge-weber syndrome. Curr Treat Options Neurol. 2013 Oct;15(5):607-17. doi: 10.1007/s11940-013-0253-6. PMID: 23907585; PMCID: PMC4487908.
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Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

The Journal of rare disorders

Akers AL, Ball KL, Clancy M, Comi AM, Faughnan ME, Gopal-Srivastava R, Jacobs TP, Kim H, Krischer J, Marchuk DA, McCulloch CE, Morrison L, Moses M, Moy CS, Pawlikowska L, Young WL.
PMID: 25221778
J Rare Disord. 2013 Apr 01;1(1):5.

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication....

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Akers AL, Ball KL, Clancy M, et al. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions. J Rare Disord. 2013;1(1):5
Akers, A. L., Ball, K. L., Clancy, M., Comi, A. M., Faughnan, M. E., Gopal-Srivastava, R., Jacobs, T. P., Kim, H., Krischer, J., Marchuk, D. A., McCulloch, C. E., Morrison, L., Moses, M., Moy, C. S., Pawlikowska, L., & Young, W. L. (2013). Brain Vascular Malformation Consortium: Overview, Progress and Future Directions. The Journal of rare disorders, 1(1), 5.
Akers, Amy L, et al. "Brain Vascular Malformation Consortium: Overview, Progress and Future Directions." The Journal of rare disorders vol. 1,1 (2013): 5.
Akers AL, Ball KL, Clancy M, Comi AM, Faughnan ME, Gopal-Srivastava R, Jacobs TP, Kim H, Krischer J, Marchuk DA, McCulloch CE, Morrison L, Moses M, Moy CS, Pawlikowska L, Young WL. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions. J Rare Disord. 2013 Apr 01;1(1):5. PMID: 25221778; PMCID: PMC4160161.
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Genotype-Phenotype Correlations in Children with HHT.

Journal of clinical medicine

Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME.
PMID: 32842615
J Clin Med. 2020 Aug 22;9(9). doi: 10.3390/jcm9092714.

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (

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Kilian A, Latino GA, White AJ, et al. Genotype-Phenotype Correlations in Children with HHT. J Clin Med. 2020;9(9)doi: 10.3390/jcm9092714.
Kilian, A., Latino, G. A., White, A. J., Clark, D., Chakinala, M. M., Ratjen, F., McDonald, J., Whitehead, K., Gossage, J. R., Lin, D., Henderson, K., Pollak, J., McWilliams, J. P., Kim, H., Lawton, M. T., Faughnan, M. E. (2020). Genotype-Phenotype Correlations in Children with HHT. Journal of clinical medicine, 9(9), . https://doi.org/10.3390/jcm9092714
Kilian, Alexandra, et al. "Genotype-Phenotype Correlations in Children with HHT." Journal of clinical medicine vol. 9,9 (2020). doi: https://doi.org/10.3390/jcm9092714
Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME. Genotype-Phenotype Correlations in Children with HHT. J Clin Med. 2020 Aug 22;9(9). doi: 10.3390/jcm9092714. PMID: 32842615; PMCID: PMC7565052.
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Intrasaccular flow disruption (WEB) of a large wide-necked basilar apex aneurysm using PulseRider-assistance.

Interdisciplinary neurosurgery : Advanced techniques and case management

Narsinh KH, Caton MT, Mahmood NF, Higashida RT, Halbach VV, Hetts SW, Amans MR, Dowd CF, Cooke DL.
PMID: 33816125
Interdiscip Neurosurg. 2021 Jun;24. doi: 10.1016/j.inat.2020.101072. Epub 2020 Dec 29.

Large, wide-necked basilar apex aneurysms are difficult to treat. Microsurgical clipping can result in neurologic morbidity and mortality. Endovascular treatment often leaves remnants that need retreatment and/or stent placement with dual antiplatelet therapy. The Woven EndoBridge (WEB) is an...

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Narsinh KH, Caton MT, Mahmood NF, et al. Intrasaccular flow disruption (WEB) of a large wide-necked basilar apex aneurysm using PulseRider-assistance. Interdiscip Neurosurg. 2020;24doi: 10.1016/j.inat.2020.101072.
Narsinh, K. H., Caton, M. T., Mahmood, N. F., Higashida, R. T., Halbach, V. V., Hetts, S. W., Amans, M. R., Dowd, C. F., & Cooke, D. L. (2021). Intrasaccular flow disruption (WEB) of a large wide-necked basilar apex aneurysm using PulseRider-assistance. Interdisciplinary neurosurgery : Advanced techniques and case management, 24. https://doi.org/10.1016/j.inat.2020.101072
Narsinh, Kazim H, et al. "Intrasaccular flow disruption (WEB) of a large wide-necked basilar apex aneurysm using PulseRider-assistance." Interdisciplinary neurosurgery : Advanced techniques and case management vol. 24 (2021). doi: https://doi.org/10.1016/j.inat.2020.101072
Narsinh KH, Caton MT, Mahmood NF, Higashida RT, Halbach VV, Hetts SW, Amans MR, Dowd CF, Cooke DL. Intrasaccular flow disruption (WEB) of a large wide-necked basilar apex aneurysm using PulseRider-assistance. Interdiscip Neurosurg. 2021 Jun;24. doi: 10.1016/j.inat.2020.101072. Epub 2020 Dec 29. PMID: 33816125; PMCID: PMC8018600.
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Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.

Molecular genetics & genomic medicine

Choksi F, Weinsheimer S, Nelson J, Pawlikowska L, Fox CK, Zafar A, Mabray MC, Zabramski J, Akers A, Hart BL, Morrison L, McCulloch CE, Kim H.
PMID: 34491620
Mol Genet Genomic Med. 2021 Oct;9(10):e1794. doi: 10.1002/mgg3.1794. Epub 2021 Sep 07.

BACKGROUND: To investigate whether common variants in EPHB4 and RASA1 are associated with cerebral cavernous malformation (CCM) disease severity phenotypes, including intracranial hemorrhage (ICH), total and large lesion counts.METHODS: Familial CCM cases enrolled in the Brain Vascular Malformation Consortium...

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Choksi F, Weinsheimer S, Nelson J, et al. Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation. Mol Genet Genomic Med. 2021;9(10):e1794doi: 10.1002/mgg3.1794.
Choksi, F., Weinsheimer, S., Nelson, J., Pawlikowska, L., Fox, C. K., Zafar, A., Mabray, M. C., Zabramski, J., Akers, A., Hart, B. L., Morrison, L., McCulloch, C. E., & Kim, H. (2021). Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation. Molecular genetics & genomic medicine, 9(10), e1794. https://doi.org/10.1002/mgg3.1794
Choksi, Foram, et al. "Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation." Molecular genetics & genomic medicine vol. 9,10 (2021): e1794. doi: https://doi.org/10.1002/mgg3.1794
Choksi F, Weinsheimer S, Nelson J, Pawlikowska L, Fox CK, Zafar A, Mabray MC, Zabramski J, Akers A, Hart BL, Morrison L, McCulloch CE, Kim H. Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation. Mol Genet Genomic Med. 2021 Oct;9(10):e1794. doi: 10.1002/mgg3.1794. Epub 2021 Sep 07. PMID: 34491620; PMCID: PMC8580075.
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Subjective Cognitive Concerns and Attitudes toward Genetic Testing Are Associated with Depressive Symptoms and Quality of Life after Genetic Testing for the Cerebral Cavernous Malformation Common Hispanic Mutation (CCM1).

Journal of behavioral and brain science

Campbell R, Petranovich CL, Cheek S, Morrison L, Hart B.
PMID: 32467778
J Behav Brain Sci. 2020 Feb;10(2):118-127. doi: 10.4236/jbbs.2020.102007. Epub 2020 Feb 25.

PURPOSE: This study aimed to characterize mood and quality of life and to examine the associations of these areas with subjective cognitive concerns and attitudes toward genetic testing for the Common Hispanic Mutation, a gene that has been associated...

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Campbell R, Petranovich CL, Cheek S, et al. Subjective Cognitive Concerns and Attitudes toward Genetic Testing Are Associated with Depressive Symptoms and Quality of Life after Genetic Testing for the Cerebral Cavernous Malformation Common Hispanic Mutation (CCM1). J Behav Brain Sci. 2020;10(2):118-127doi: 10.4236/jbbs.2020.102007.
Campbell, R., Petranovich, C. L., Cheek, S., Morrison, L., & Hart, B. (2020). Subjective Cognitive Concerns and Attitudes toward Genetic Testing Are Associated with Depressive Symptoms and Quality of Life after Genetic Testing for the Cerebral Cavernous Malformation Common Hispanic Mutation (CCM1). Journal of behavioral and brain science, 10(2), 118-127. https://doi.org/10.4236/jbbs.2020.102007
Campbell, Richard, et al. "Subjective Cognitive Concerns and Attitudes toward Genetic Testing Are Associated with Depressive Symptoms and Quality of Life after Genetic Testing for the Cerebral Cavernous Malformation Common Hispanic Mutation (CCM1)." Journal of behavioral and brain science vol. 10,2 (2020): 118-127. doi: https://doi.org/10.4236/jbbs.2020.102007
Campbell R, Petranovich CL, Cheek S, Morrison L, Hart B. Subjective Cognitive Concerns and Attitudes toward Genetic Testing Are Associated with Depressive Symptoms and Quality of Life after Genetic Testing for the Cerebral Cavernous Malformation Common Hispanic Mutation (CCM1). J Behav Brain Sci. 2020 Feb;10(2):118-127. doi: 10.4236/jbbs.2020.102007. Epub 2020 Feb 25. PMID: 32467778; PMCID: PMC7255433.
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Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

Pediatric neurology

Smegal LF, Sebold AJ, Hammill AM, Juhász C, Lo WD, Miles DK, Wilfong AA, Levin AV, Fisher B, Ball KL, Pinto AL, Comi AM.
PMID: 33813331
Pediatr Neurol. 2021 Jun;119:3-10. doi: 10.1016/j.pediatrneurol.2021.02.006. Epub 2021 Mar 05.

BACKGROUND: Epilepsy in typical Sturge-Weber syndrome (SWS) is common, and many questions remain regarding the treatment outcomes. We analyzed a large multicenter database with focus on neurological drug treatment in different demographic and SWS characteristic groups.METHODS: A total of...

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Smegal LF, Sebold AJ, Hammill AM, et al. Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome. Pediatr Neurol. 2021;119:3-10doi: 10.1016/j.pediatrneurol.2021.02.006.
Smegal, L. F., Sebold, A. J., Hammill, A. M., Juhász, C., Lo, W. D., Miles, D. K., Wilfong, A. A., Levin, A. V., Fisher, B., Ball, K. L., Pinto, A. L., Comi, A. M. (2021). Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome. Pediatric neurology, 1193-10. https://doi.org/10.1016/j.pediatrneurol.2021.02.006
Smegal, Lindsay F, et al. "Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome." Pediatric neurology vol. 119 (2021): 3-10. doi: https://doi.org/10.1016/j.pediatrneurol.2021.02.006
Smegal LF, Sebold AJ, Hammill AM, Juhász C, Lo WD, Miles DK, Wilfong AA, Levin AV, Fisher B, Ball KL, Pinto AL, Comi AM. Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome. Pediatr Neurol. 2021 Jun;119:3-10. doi: 10.1016/j.pediatrneurol.2021.02.006. Epub 2021 Mar 05. PMID: 33813331; PMCID: PMC8162684.
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Sirolimus Treatment in Sturge-Weber Syndrome.

Pediatric neurology

Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM.
PMID: 33316689
Pediatr Neurol. 2021 Feb;115:29-40. doi: 10.1016/j.pediatrneurol.2020.10.013. Epub 2020 Nov 02.

BACKGROUND: Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of...

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Sebold AJ, Day AM, Ewen J, et al. Sirolimus Treatment in Sturge-Weber Syndrome. Pediatr Neurol. 2020;115:29-40doi: 10.1016/j.pediatrneurol.2020.10.013.
Sebold, A. J., Day, A. M., Ewen, J., Adamek, J., Byars, A., Cohen, B., Kossoff, E. H., Mizuno, T., Ryan, M., Sievers, J., Smegal, L., Suskauer, S. J., Thomas, C., Vinks, A., Zabel, T. A., Hammill, A. M., & Comi, A. M. (2021). Sirolimus Treatment in Sturge-Weber Syndrome. Pediatric neurology, 11529-40. https://doi.org/10.1016/j.pediatrneurol.2020.10.013
Sebold, Alison J, et al. "Sirolimus Treatment in Sturge-Weber Syndrome." Pediatric neurology vol. 115 (2021): 29-40. doi: https://doi.org/10.1016/j.pediatrneurol.2020.10.013
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM. Sirolimus Treatment in Sturge-Weber Syndrome. Pediatr Neurol. 2021 Feb;115:29-40. doi: 10.1016/j.pediatrneurol.2020.10.013. Epub 2020 Nov 02. PMID: 33316689; PMCID: PMC8209677.
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Computed tomography perfusion abnormalities after carotid endarterectomy help in the diagnosis of reversible cerebral vasoconstriction syndrome.

Journal of vascular surgery cases and innovative techniques

Isikbay M, Narsinh KH, Arroyo S, Smith WS, Cooke DL, Higashida RT, Amans MR.
PMID: 33748556
J Vasc Surg Cases Innov Tech. 2020 Oct 27;7(1):171-175. doi: 10.1016/j.jvscit.2020.10.010. eCollection 2021 Mar.

Acute neurologic deficits in the postoperative period after carotid endarterectomy (CEA) can prompt extensive diagnostic evaluation. Reversible cerebral vasoconstriction syndrome (RCVS) is an underrecognized cause of acute neurologic deficit after CEA. We present the case of RCVS in an...

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Isikbay M, Narsinh KH, Arroyo S, et al. Computed tomography perfusion abnormalities after carotid endarterectomy help in the diagnosis of reversible cerebral vasoconstriction syndrome. J Vasc Surg Cases Innov Tech. 2020;7(1):171-175doi: 10.1016/j.jvscit.2020.10.010.
Isikbay, M., Narsinh, K. H., Arroyo, S., Smith, W. S., Cooke, D. L., Higashida, R. T., & Amans, M. R. (2021). Computed tomography perfusion abnormalities after carotid endarterectomy help in the diagnosis of reversible cerebral vasoconstriction syndrome. Journal of vascular surgery cases and innovative techniques, 7(1), 171-175. https://doi.org/10.1016/j.jvscit.2020.10.010
Isikbay, Masis, et al. "Computed tomography perfusion abnormalities after carotid endarterectomy help in the diagnosis of reversible cerebral vasoconstriction syndrome." Journal of vascular surgery cases and innovative techniques vol. 7,1 (2021): 171-175. doi: https://doi.org/10.1016/j.jvscit.2020.10.010
Isikbay M, Narsinh KH, Arroyo S, Smith WS, Cooke DL, Higashida RT, Amans MR. Computed tomography perfusion abnormalities after carotid endarterectomy help in the diagnosis of reversible cerebral vasoconstriction syndrome. J Vasc Surg Cases Innov Tech. 2020 Oct 27;7(1):171-175. doi: 10.1016/j.jvscit.2020.10.010. eCollection 2021 Mar. PMID: 33748556; PMCID: PMC7973125.
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Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia.

American journal of hematology

Kasthuri RS, Montifar M, Nelson J, Kim H, Lawton MT, Faughnan ME.
PMID: 28639385
Am J Hematol. 2017 Jun 22; doi: 10.1002/ajh.24832. Epub 2017 Jun 22.

No abstract available.

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Kasthuri RS, Montifar M, Nelson J, et al. Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. Am J Hematol. 2017;doi: 10.1002/ajh.24832.
Kasthuri, R. S., Montifar, M., Nelson, J., Kim, H., Lawton, M. T., Faughnan, M. E. (2017). Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. American journal of hematology, . https://doi.org/10.1002/ajh.24832
Kasthuri, Raj S, et al. "Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia." American journal of hematology vol. (2017). doi: https://doi.org/10.1002/ajh.24832
Kasthuri RS, Montifar M, Nelson J, Kim H, Lawton MT, Faughnan ME. Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. Am J Hematol. 2017 Jun 22; doi: 10.1002/ajh.24832. Epub 2017 Jun 22. PMID: 28639385; PMCID: PMC5997494.
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Identification of a rare .

Human genome variation

Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT.
PMID: 29844917
Hum Genome Var. 2018 Mar 08;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018.

Brain arteriovenous malformations (AVMs) are abnormal connections between arteries and veins that can result in hemorrhagic stroke. A genetic basis for AVMs is suspected, and we investigated potential mutations in a 14-year-old girl who developed a recurrent brain AVM....

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Walcott BP, Winkler EA, Zhou S, et al. Identification of a rare . Hum Genome Var. 2018;5:18001doi: 10.1038/hgv.2018.1.
Walcott, B. P., Winkler, E. A., Zhou, S., Birk, H., Guo, D., Koch, M. J., Stapleton, C. J., Spiegelman, D., Dionne-Laporte, A., Dion, P. A., Kahle, K. T., Rouleau, G. A., & Lawton, M. T. (2018). Identification of a rare . Human genome variation, 518001. https://doi.org/10.1038/hgv.2018.1
Walcott, Brian P, et al. "Identification of a rare ." Human genome variation vol. 5 (2018): 18001. doi: https://doi.org/10.1038/hgv.2018.1
Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT. Identification of a rare . Hum Genome Var. 2018 Mar 08;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018. PMID: 29844917; PMCID: PMC5966745.
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The Expanding Cell Diversity of the Brain Vasculature.

Frontiers in physiology

Ross JM, Kim C, Allen D, Crouch EE, Narsinh K, Cooke DL, Abla AA, Nowakowski TJ, Winkler EA.
PMID: 33343397
Front Physiol. 2020 Dec 03;11:600767. doi: 10.3389/fphys.2020.600767. eCollection 2020.

The cerebrovasculature is essential to brain health and is tasked with ensuring adequate delivery of oxygen and metabolic precursors to ensure normal neurologic function. This is coordinated through a dynamic, multi-directional cellular interplay between vascular, neuronal, and glial cells....

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Ross JM, Kim C, Allen D, et al. The Expanding Cell Diversity of the Brain Vasculature. Front Physiol. 2020;11:600767doi: 10.3389/fphys.2020.600767.
Ross, J. M., Kim, C., Allen, D., Crouch, E. E., Narsinh, K., Cooke, D. L., Abla, A. A., Nowakowski, T. J., & Winkler, E. A. (2020). The Expanding Cell Diversity of the Brain Vasculature. Frontiers in physiology, 11600767. https://doi.org/10.3389/fphys.2020.600767
Ross, Jayden M, et al. "The Expanding Cell Diversity of the Brain Vasculature." Frontiers in physiology vol. 11 (2020): 600767. doi: https://doi.org/10.3389/fphys.2020.600767
Ross JM, Kim C, Allen D, Crouch EE, Narsinh K, Cooke DL, Abla AA, Nowakowski TJ, Winkler EA. The Expanding Cell Diversity of the Brain Vasculature. Front Physiol. 2020 Dec 03;11:600767. doi: 10.3389/fphys.2020.600767. eCollection 2020. PMID: 33343397; PMCID: PMC7744630.
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Showing 1 to 12 of 16 entries