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Items: 26

1.

Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature.

Warner ME, Martin DP, Warner MA, Gavrilova RH, Sprung J, Weingarten TN.

Anesth Pain Med. 2017 Jul 26;7(5):e57826. doi: 10.5812/aapm.57826. eCollection 2017 Oct.

2.

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Almeqdadi M, Kemppainen JL, Pichurin PN, Gavrilova RH.

Am J Case Rep. 2018 Mar 25;19:347-353.

3.

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome.

Botha H, Finch NA, Gavrilova RH, Machulda MM, Fields JA, Lowe VJ, Petersen RC, Jack CR Jr, Dheel CM, Gearhart DJ, Knopman DS, Rademakers R, Boeve BF.

Neurol Genet. 2017 Dec 11;3(6):e201. doi: 10.1212/NXG.0000000000000201. eCollection 2017 Dec. No abstract available.

4.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G.

Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184.

PMID:
29050392
5.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.

Mansukhani S, Ho ML, Gavrilova RH, Mohney BG, Quiram PA, Brodsky MC.

J AAPOS. 2017 Oct;21(5):420-422. doi: 10.1016/j.jaapos.2017.04.015. Epub 2017 Aug 31.

PMID:
28864049
6.

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW.

Mol Genet Metab Rep. 2017 Aug 11;13:46-51. doi: 10.1016/j.ymgmr.2017.08.001. eCollection 2017 Dec.

7.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B.

Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.

PMID:
28649782
8.

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC.

Am J Med Genet A. 2017 May;173(5):1328-1333. doi: 10.1002/ajmg.a.38113. Epub 2017 Mar 21.

PMID:
28322501
9.

De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.

Codipilly DC, Gavrilova RH, Tangalos EG.

BMJ Case Rep. 2017 Jan 20;2017. pii: bcr2016218016. doi: 10.1136/bcr-2016-218016.

PMID:
28108439
10.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.

J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5.

11.

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members.

Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.

PMID:
26944241
12.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study.

Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3.

PMID:
26842493
13.

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ.

Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6.

PMID:
26739101
14.

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJ, Gavrilova RH, Smith DI, Kocher JP, Dyck PJ.

J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1265-72. doi: 10.1136/jnnp-2013-306740. Epub 2014 Mar 6.

PMID:
24604904
15.

Neuroimaging and clinical features in type II (late-onset) Alexander disease.

Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N.

Neurology. 2014 Jan 7;82(1):49-56. doi: 10.1212/01.wnl.0000438230.33223.bc. Epub 2013 Dec 4.

16.

Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder.

Flanagan EP, Gavrilova RH, Boeve BF, Kumar N, Jelsing EJ, Silber MH.

Neurology. 2013 Jan 1;80(1):118-20. doi: 10.1212/WNL.0b013e31827b1b2a. Epub 2012 Dec 12. No abstract available.

PMID:
23243074
17.

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.

Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):386-91. doi: 10.1136/jnnp-2012-303719. Epub 2012 Nov 5.

18.

Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.

Moore SA, Kumar N, Gavrilova RH.

J Neurol. 2012 Nov;259(11):2494-7. doi: 10.1007/s00415-012-6596-1. Epub 2012 Jul 29. Review. No abstract available.

PMID:
22843165
19.

Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency.

Jones LK Jr, Liewluck T, Gavrilova RH.

Neuromuscul Disord. 2012 Aug;22(8):763-6. doi: 10.1016/j.nmd.2012.02.003. Epub 2012 May 16.

PMID:
22595200
20.

Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series.

Gurrieri C, Kivela JE, Bojanić K, Gavrilova RH, Flick RP, Sprung J, Weingarten TN.

Can J Anaesth. 2011 Aug;58(8):751-63. doi: 10.1007/s12630-011-9528-0. Epub 2011 Jun 9.

PMID:
21656321
21.

Valproate-induced worsening of seizures: clue to underlying diagnosis.

Dhamija R, Gavrilova RH, Wirrell EC.

J Child Neurol. 2011 Oct;26(10):1319-21. doi: 10.1177/0883073811402204. Epub 2011 Mar 31.

PMID:
21454832
22.

Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia.

Passov V, Gavrilova RH, Strand E, Cerhan JH, Josephs KA.

Arch Neurol. 2011 Mar;68(3):376-80. doi: 10.1001/archneurol.2011.26.

PMID:
21403024
23.

Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

Brinjikji W, Swanson JW, Zabel C, Dyck PJ, Tracy JA, Gavrilova RH.

JIMD Rep. 2011;1:89-96. doi: 10.1007/8904_2011_22. Epub 2011 Jun 22.

24.

Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis.

Lucchinetti CF, Gavrilova RH, Metz I, Parisi JE, Scheithauer BW, Weigand S, Thomsen K, Mandrekar J, Altintas A, Erickson BJ, König F, Giannini C, Lassmann H, Linbo L, Pittock SJ, Brück W.

Brain. 2008 Jul;131(Pt 7):1759-75. doi: 10.1093/brain/awn098. Epub 2008 Jun 5.

25.

Multiple sclerosis, brain radiotherapy, and risk of neurotoxicity: the Mayo Clinic experience.

Miller RC, Lachance DH, Lucchinetti CF, Keegan BM, Gavrilova RH, Brown PD, Weinshenker BG, Rodriguez M.

Int J Radiat Oncol Biol Phys. 2006 Nov 15;66(4):1178-86. Epub 2006 Sep 11.

PMID:
16965867
26.

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