May 1, 2020

Recent Publications

Young-Bin Song

What PA Practice Looks Like in Neuro-Oncology https://www.aapa.org/news-central/2020/02/what-pa-practice-looks-like-in-neuro-oncology/

Suman Jayadev

Beckman M, et al. Loss of presenilin 2 age-dependently alters
susceptibility to acute seizures and kindling acquisition. https://www.sciencedirect.com/science/article/pii/S0969996119303948?via%3Dihub

Jerome Graber

J Neuroimaging. 2020 Jan 10. doi: 10.1111/jon.12687. [Epub ahead
of print] Clinical Imaging for Diagnostic Challenges in the Management of
Gliomas: A Review. Bonm AV1, Ritterbusch R2, Throckmorton P2, Graber JJ1,3.
https://www.ncbi.nlm.nih.gov/pubmed/31925884

Michael Williams

Chapters

Williams MA. Two Provider Consent. In: Szalados JE, Wright W,
Smith W, eds., Law and Ethics in Neurocritical Care: A Practical Guide for
Managing Clinical Complexities. Neurocritical Care Society. Pp. 54-57, 2019

Granstein J, Williams MA. Duty of Care. In: Szalados JE, Wright
W, Smith W, eds., Law and Ethics in Neurocritical Care: A Practical Guide for
Managing Clinical Complexities. Neurocritical Care Society. Pp. 58-61, 2019

Peer Reviewed

Williams MA, van der Willigen T, White P, Cartwright CC, Wood
DL, Hamilton MG. Improving health care transition and longitudinal care for
adolescents and young adults with hydrocephalus: Report from the Hydrocephalus
Association Transition Summit. Journal of Neurosurgery; 131:1037-1045. https://www.ncbi.nlm.nih.gov/pubmed/30497160

Annette Wundes

Diroximel Fumarate Demonstrates an Improved Gastrointestinal
Tolerability Profile Compared with Dimethyl Fumarate in Patients with Relapsing-Remitting
Multiple Sclerosis: Results from the Randomized, Double-Blind, Phase III
EVOLVE-MS-2 Study. Naismith RT, Wundes A, Ziemssen T, et al on behalf of
EVOLVE-MS-2 Study Group. CNS Drugs. 2020 Jan 17 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7018784/

Diroximel fumarate (DRF) in patients with relapsing–remitting
multiple sclerosis: Interim safety and efficacy results from the phase 3
EVOLVE-MS-1 study. Multiple sclerosis 2019, epub 11/4/2019. https://doi.org/10.1177/1352458519881761 RT Naismith, JS Wolinsky , A Wundes, et
al. on behalf of the EVOLVE-MS-1 study group

Impact of Multiple Sclerosis Project ECHO (Extension for
Community Healthcare Outcomes) on Provider Confidence and Clinical Practice.
Alschuler KN, Stobbe GA, Hertz DP, Johnson KL, von Geldern G, Wundes A,
Reynolds P, Unruh K, Scott JD. Int J MS Care. 2019 Jul-Aug;21(4):143-150. https://www.ncbi.nlm.nih.gov/pubmed/31474806

Jonathan Weinstein

A. McDonough, S. Noor, R.V. Lee, R. Dodge III, J.S. Strosnider,
J. Shen, S. Davidson, T. T. Möller, G.A. Garden and J. R. Weinstein.
Ischemic Preconditioning Induces Cortical Microglial Proliferation and a
Transcriptomic Program of Robust Cell Cycle Activation. Glia (2020);
68:76-94, https://doi.org/10.1002/glia.23701

A. McDonough & J. R. Weinstein. The Role of Microglia
in Ischemic Preconditioning. Glia (2020), 68: 455-471, https://doi.org/10.1002/glia.23695

Thomas Bird

Latimer CS, Burke BT, Liachko NF, Currey HN, Kilgore MD, Gibbons
LE, Henriksen J, Darvas M, Domoto-Reilly K, Jayadev S, Grabowski TJ, Crane PK,
Larson EB, Kraemer BC, Bird TD, Keene CD. Resistance and resilience to
Alzheimer’s disease pathology are associated with reduced cortical pTau and
absence of limbic-predominant age-related TDP-43 encephalopathy in a
community-based cohort. Acta Neuropathol Commun. 2019 Jun 7;7(1):91. doi:
10.1186/s40478-019-0743-1. Erratum in: Acta Neuropathol Commun. 2019 Aug
14;7(1):131. PubMed PMID: 31174609;PubMed Central PMCID: PMC6556006. https://www.ncbi.nlm.nih.gov/pubmed/31174609

Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L,
Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C,
Grabowski T, Nik SHM, Newman M, Garden GA, Leverenz JB, Tsuang D, Latimer
C, Gonzalez-Cuyar LF, Keene CD, Morrison RS, Rhoads K, Wijsman EM, Dorschner
MO, Lardelli M, Young JE, Valdmanis PN, Bird TD, Jayadev S. Alternative
splicing in a presenilin 2 variant associated with Alzheimer disease. Ann Clin
Transl Neurol. 2019 Mar 10;6(4):762-777. doi: 10.1002/acn3.755. eCollection
2019 Apr. PubMed PMID: 31020001; PubMed Central PMCID: PMC6469258. https://www.ncbi.nlm.nih.gov/pubmed/31020001

Gay EA, Byers PH, Bennett RL, Bird TD, Hisama FM. Trends over 42
years in the Adult Medical Genetics Clinic at the University of Washington.
Genet Med. 2019 Jun;21(6):1457-1461. doi: 10.1038/s41436-018-0329-5. Epub 2018
Oct 16. PubMed PMID: 30327540. https://www.ncbi.nlm.nih.gov/pubmed/30327540

Cyrus Zabetian

Cholerton B, Poston KL, Tian L, Quinn JF, Chung KA, Hiller AL,
et al. Participant and Study Partner Reported Impact of Cognition on Functional
Activities in Parkinson’s Disease. Mov Disord Clin Pract. 2020;7:61-9. https://www.ncbi.nlm.nih.gov/pubmed/31970213

Kim HM, Nazor C, Zabetian CP, Quinn JF, Chung KA, Hiller AL, et
al. Prediction of cognitive progression in Parkinson’s disease using three
cognitive screening measures. Clinical Parkinsonism & Related Disorders.
2019;1:91-7. https://www.sciencedirect.com/science/article/pii/S2590112519300234

Morris R, Martini DN, Smulders K, Kelly VE, Zabetian CP, Poston
K, et al. Cognitive associations with comprehensive gait and static balance
measures in Parkinson’s disease. Parkinsonism Relat Disord. 2019;69:104-10.
https://www.ncbi.nlm.nih.gov/pubmed/31731260

Mark Holmes

Holmes MD, Feng R, Wise MV, Ma C, Ramon C, Wu J, et al. Safety of
slow-pulsed transcranial electrical stimulation in acute spike suppression. Ann
Clin Transl Neurol. 2019;6:2579-85. https://www.ncbi.nlm.nih.gov/pubmed/31709777

Mark Wainwright

Risk of Intracranial Hemorrhage Following Intravenous tPA
(Tissue-Type Plasminogen Activator) for Acute Stroke Is Low in Children.
Amlie-Lefond C, Shaw DWW, Cooper A, Wainwright MS, Kirton A, Felling RJ,
Abraham MG, Mackay MT, Dowling MM, Torres M, Rivkin MJ, Grabowski EF, Lee S,
Kurz JE, McMillan HJ, Barry D, Lee-Eng J, Ichord RN. Stroke. 2020
Feb;51(2):542-548. https://www.ncbi.nlm.nih.gov/pubmed/31842706

Amlie-Lefond C, Wainwright MS. Organizing for Acute Arterial
Ischemic Stroke in Children. Stroke. 2019 Dec;50(12):3662-3668. https://www.ncbi.nlm.nih.gov/pubmed/31665991

Kochanek PM, Grenvik AN, Tasker RC, Carney N, Totten AM, Adelson
PD, Selden NR, Davis-O’Reilly C, Hart EL, Bell MJ, Bratton SL, Grant GA,
Kissoon N, Reuter-Rice KE, Vavilala MS, Wainwright MS. The authors
reply.Pediatr Crit Care Med. 2019 Nov;20(11):1105-1107. 2019 Jul 24. https://www.ncbi.nlm.nih.gov/pubmed/31688689

Sansevere AJ, Arya R, Sánchez Fernández I, Gaillard WD, Tasker
RC, Lai YC, Anderson AE, Tchapyjnikov D, Chapman KE, Brenton JN, Carpenter JL,
Gaínza-Lein M, Goldstein JL, Goodkin HP, Jackson MC, Kapur K, Mikati MA,
Peariso K, Glauser TA, Topjian AA, Wainwright M, Wilfong AA, Williams KL,
Loddenkemper T, Abend NS; De Novo Variants in WDR37 Are Associated with
Epilepsy Pediatric Status Epilepticus Research Group (pSERG). J Clin
Neurophysiol. 2019 Sep;36(5):365-370. https://www.cell.com/cms/10.1016/j.ajhg.2019.06.014/attachment/11aa9927-8a0c-49d5-b8d3-57b050a3fd34/mmc1

Topjian AA, de Caen A, Wainwright MS, Abella BS, Abend NS,
Atkins DL, Bembea MM, Fink EL, Guerguerian AM, Haskell SE, Kilgannon JH, Lasa
JJ, Hazinski MF. Pediatric Post-Cardiac Arrest Care: A Scientific
Statement From the American Heart Association. 2019 Aug 6;140(6):e194-e233.
https://www.ncbi.nlm.nih.gov/pubmed/31242751

Sánchez Fernández I, Gaínza-Lein M, Abend NS, Amengual-Gual M,
Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J,
Farias-Moeller R, Davis Gaillard W, Glauser TA, Goldstein J, Goodkin HP,
Guerriero RM, Hecox K, Jackson M, Kapur K, Kelley SA, Kossoff EHW, Lai YC,
McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso
K, Piantino J, Riviello JJ Jr, Sannagowdara K, Stafstrom CE, Tasker RC,
Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K,
Loddenkemper T; The onset of pediatric refractory status epilepticus is not
distributed uniformly during the day.Pediatric Status Epilepticus Research
Group. Seizure. 2019 Aug;70:90-96. https://www.ncbi.nlm.nih.gov/pubmed/31323566

James Owens

Strategic Considerations for Applying the Flipped Classroom to
Neurology Education. Sandrone S, Berthaud JV, Carlson C, Cios J, Dixit N,
Farheen A, Kraker J, Owens JWM, Patino G, Sarva H, Weber D, Schneider LD. Ann
Neurol. 2020 Jan;87(1):4-9. doi: 10.1002/ana.25609. Epub 2019 Nov 21. https://www.ncbi.nlm.nih.gov/pubmed/31581320

Chan JHM, Owens JW, Wrede JE. Case of an In-Laboratory Vagal
Nerve Stimulator Titration for Vagal Nerve Stimulator-Induced Pediatric
Obstructive Sleep Apnea. J Clin Sleep Med. 2019 Oct 15;15(10):1539-1542.
https://www.ncbi.nlm.nih.gov/pubmed/31596221

Sandrone S, Berthaud JV, Carlson C, Cios J, Dixit N, Farheen A,
Kraker J, Owens JWM, Patino G, Sarva H, Weber D, Schneider LD. Education
Research: Flipped classroom in neurology: Principles, practices, and
perspectivesNeurology. 2019 Jul 2;93(1):e106-e111. https://www.ncbi.nlm.nih.gov/pubmed/31262995

Ahmad Marashly

Examining the Utility of Resective Epilepsy Surgery in Children
With Electrical Status Epilepticus in Sleep: Long Term Clinical and
Electrophysiological Outcomes. Marashly A, Koop J, Loman M, Lee YW, Lew
SM. Front Neurol. 2020 Jan 15;10:1397. https://www.ncbi.nlm.nih.gov/pubmed/32010050

Catherine Amlie-Lefond

Amlie-Lefond C, Wainwright MS. Organizing for Acute Arterial
Ischemic Stroke in Children. Stroke. 2019 Dec;50(12):3662-3668. https://www.ncbi.nlm.nih.gov/pubmed/31665991

Lockrow JP, Wright JN, Saneto RP, Amlie-Lefond C. Epileptic
Spasms Predict Poor Epilepsy Outcomes After Perinatal Stroke.J Child Neurol.
2019 Nov;34(13):830-836. https://www.ncbi.nlm.nih.gov/pubmed/31339419

Juliane Gust

Gust J, Annesley CE, Gardner RA, Bozarth X.EEG Correlates of
Delirium in Children and Young Adults With CD19-Directed CAR T Cell
Treatment-Related Neurotoxicity. J Clin Neurophysiol. 2019 Dec 13. https://www.ncbi.nlm.nih.gov/pubmed/31851018

RA, Ceppi F, Rivers J, Annesley C, Summers C, Taraseviciute A,
Gust J, Leger KJ, Tarlock K, Cooper TM, Finney OC, Brakke H, Li DH, Park JR,
Jensen MC. Preemptive mitigation of CD19 CAR T-cell cytokine release syndrome
without attenuation of antileukemic efficacy.Gardner Blood. 2019 Dec
12;134(24):2149-2158. doi: 10.1182/blood.2019001463. https://www.ncbi.nlm.nih.gov/pubmed/31697826

Ravanpay AC, Gust J, Johnson AJ, Rolczynski LS, Cecchini M,
Chang CA, Hoglund VJ, Mukherjee R, Vitanza NA, Orentas RJ, Jensen MC.
EGFR806-CAR T cells selectively target a tumor-restricted EGFR epitope in
glioblastoma Oncotarget. 2019 Dec 17;10(66):7080-7095. https://www.ncbi.nlm.nih.gov/pubmed/31903167

Gust J, Ishak GE. Chimeric Antigen Receptor T-Cell Neurotoxicity
Neuroimaging: More Than Meets the Eye. AJNR Am J Neuroradiol. 2019
Oct;40(10):E50-E51. https://www.ncbi.nlm.nih.gov/pubmed/31488503

Xiuhua Liang Bozarth

Russell Saneto

Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto
RP, Van Hove JLK Pathogenic variants in NUBPL result in failure to
assemble the matrix arm of complex I and cause a complex leukoencephalopathy
with thalamic involvement.. Mol Genet Metab. 2019 Dec 30. https://www.ncbi.nlm.nih.gov/pubmed/31917109

Parikh S, Galioto R, Lapin B, Haas R, Hirano M, Koenig MK,
Saneto RP, Zolkipli-Cunningham Z, Goldstein A, Karaa A. Fatigue in
primary genetic mitochondrial disease: No rest for the weary. Neuromuscul
Disord. 2019 Nov;29(11):895-902. https://www.ncbi.nlm.nih.gov/pubmed/31653361

Berg AT, Wusthoff C, Shellhaas RA, Loddenkemper T, Grinspan ZM,
Saneto RP, Knupp KG, Patel A, Sullivan JE, Kossoff EH, Chu CJ, Massey S,
Valencia I, Keator C, Wirrell EC, Coryell J, Millichap JJ, Gaillard WD.
Immediate outcomes in early life epilepsy: A contemporary account.Epilepsy
Behav. 2019 Aug;97:44-50. https://www.ncbi.nlm.nih.gov/pubmed/31181428

Jason Lockrow

Seth Perlman

Rummey C, Corben LA, Delatycki MB, Subramony SH, Bushara K,
Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T,
Perlman S, Farmer JM, Lynch DR. Psychometric properties of the Friedreich
Ataxia Rating Scale. Neurol Genet. 2019 Oct 29;5(6):371 https://www.ncbi.nlm.nih.gov/pubmed/32042904

William Dobyns

Oegema R, Barkovich AJ, Mancini GMS, Guerrini R, Dobyns WB.
Subcortical heterotopic gray matter brain malformations: Classification study
of 107 individuals. Neurology. 2019 Oct 1;93(14):e1360-e1373 https://www.ncbi.nlm.nih.gov/pubmed/31484711

Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns
W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP,
Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome:
Clinical phenotype, genotype, and management guidelines Am J Med Genet A.
2019 Sep;179(9):1725-1744. https://www.ncbi.nlm.nih.gov/pubmed/31222966

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek
AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW,
Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases
Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF,
Yamamoto S, Bellen HJ, Malicdan MCV. Colobomas, Dysmorphism, Developmental
Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019
Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18.
Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674. https://www.ncbi.nlm.nih.gov/pubmed/31491411

Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E,
Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L,
Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP,
Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S,
Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing
N, Calvas P, Ragge NK. De Novo Missense Variants in FBXW11 Cause
Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am
J Hum Genet. 2019 Jul 23. pii: S0002-9297(19)30268-X. https://www.ncbi.nlm.nih.gov/pubmed/31402090

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R,
Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM,
Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven
J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee
H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA,
Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS,
Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen
Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L,
Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z,
Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and
biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019
Jul;40(7):908-925. https://www.ncbi.nlm.nih.gov/pubmed/30817854

Heidi Blume

Law EF, Powers SW, Blume H, Palermo TM. Screening Family and
Psychosocial Risk in Pediatric Migraine and Tension-Type Headache: Validation of
the Psychosocial Assessment Tool (PAT). Headache. 2019 Oct;59(9):1516-1529.
https://www.ncbi.nlm.nih.gov/pubmed/31318451

Hannah Tully

Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully
HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K,
Doherty D, Dipple KM. Expanding phenotype with severe midline brain anomalies
and missense variant supports a causal role for FOXA2 in 20p11.2 deletion
syndrome. Am J Med Genet A. 2019 Sep;179(9):1783-1790 https://www.ncbi.nlm.nih.gov/pubmed/31294511

Wenger TL, Hopper RA, Rosen A, Tully HM, Cunningham ML, Lee A. A
genotype-specific surgical approach for patients with Pfeiffer syndrome due to
W290C pathogenic variant in FGFR2 is associated with improved developmental
outcomes and reduced mortality. Genet Med. 2019 Feb;21(2):471-476. https://www.ncbi.nlm.nih.gov/pubmed/29915381

Edward Novotny

Kyle Steinman

Ibañez LV, Stoep AV, Myers K, Zhou C, Dorsey S, Steinman KJ,
Stone WL. BMC Promoting early autism detection and intervention in underserved
communities: study protocol for a pragmatic trial using a stepped-wedge
design.Psychiatry. 2019 Jun 7;19(1):169. https://www.ncbi.nlm.nih.gov/pubmed/31174514

Nicholas Poolos

Selective hyperactivation of JNK2 in an animal model of temporal
lobe epilepsy. Parikh AN, Concepcion FA, Khan MN, Boehm RD, Poolos OC, Dhami A,
Poolos NP. IBRO Rep. 2020 https://www.ncbi.nlm.nih.gov/pubmed/32072069