Publications

Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Eur J Med Genet, 54(1):82-5, 2011.

Amene CS, Yeh-Nayre LA, Crawford JR. Secondary glioblastoma multiforme in a child with disseminated juvenile pilocytic astrocytoma.

Case Rep Oncol Med, 2012; 290905. doi: 10.1155/2012/290905. Epub 2012 Nov 19.

Amene CS, Yeh-Nayre LA, Crawford JR. Isolated Sensorineural Hearing Loss as Initial Presentation of Recurrent Medulloblastoma: Neuroimaging and Audiologic Correlates.

Clin Neuroradiol, 2012 Nov 26. [Epub ahead of print]

Amene CS, Yeh-Nayre LA, Crawford JR. Secondary glioblastoma multiforme in a child with disseminated juvenile pilocytic astrocytoma.

Case Rep Oncol Med, 2012; 290905. doi: 10.1155/2012/290905. Epub 2012 Nov 19.

Amene CS, Yeh-Nayre LA, Crawford JR. Isolated Sensorineural Hearing Loss as Initial Presentation of Recurrent Medulloblastoma: Neuroimaging and Audiologic Correlates.

Clin Neuroradiol, 2012 Nov 26. [Epub ahead of print]

Ballantyne AO, Spilkin AM, Trauner DA. Executive function in nephropathic cystinosis.

Cognitive and Behavioral Neurology, 26(1):14-22, 2013.

Buchanan AL, Montepiedra G, Sirois PA,

Kammerer B, Garvie P, Storm C & Nichols SL. Barriers to medication adherence in HIV-infected children and youth based on self-and caregiver report. Pediatrics, 129(5):e1244-51, 2012.

Bui JD, Nguyen TT. Congenital Brain Abnormalities. In:

Principles and Practice of Pediatric Neurosurgery (Albright AL, Pollack IF,Adelson PD, editors) Thieme; 3rd edition; 2013 in press.

Butko MT, Drobizhev M, Makarov NS, Rebane A, Brinkman BC, Gleeson JG. Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity.

BMC Biotechnol, 2;11:20, 2011.

Capers KN, Turnacioglu S, Leshner RT,

Crawford JR. Antiretroviral therapy-associated acute motor and sensory axonal neuropathy. 2010 Case. Rep Neurol, 3:1-6, 2011.

Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH. Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.

Genet Med, 13(9):794-9, 2011.

Crawford JR. Say D Vitamin B12 Deficiency Presenting as Acute Ataxia.

BMJ Case Rep, 2013 Mar 26.

Crawford JR. Pediatric Brain Tumors.

Pediatr Rev, 34(2):63-78, 2013.

Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease.

Muscle Nerve, 45(3):319-33, 2012.

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szy

manska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet, 43(3):189-96, 2011.

Dlugos D, Shinnar S, Cnaan A, Hu F, Moshé S, Mizrahi E, Masur D, Sogawa Y, Le Pichon JB, Levine C, Hirtz D, Clark P, Adamson PC, Glauser T; For the Childhood Absence Epilepsy Study Team. Pretreatment EEG in childhood absence epilepsy: Associations with attention and treatment outcome.

Neurology, 2013 May 29. [Epub ahead of print] D. Trauner is the site PI for this study and a member of the CAE study group).

Du A, Naviaux RK, Le T, Xu C, Sommer

SS, Haas RH. Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion, 11(3):430-6, 2011.

Elbabaa SK, Gokden M, Crawford JR, Ke

sari S, Saad AG Radiation-Associated Meningiomas in Children: Clinical, Pathological, and Cytogenetic Characteristics with a Critical Review of the Literature J Neurosurg Pediatr, 10:281-290, 2012.

Harbert MJ, Yeh-Nayre LA, O'Halloran HS, Levy ML, Crawford JR Unrecognized Visual Field Deficits in Children with Primary Central Nervous System Brain Tumors.

J Neurooncol, 107(3):545-9, 2012. Epub 2011 Dec 4.

      Escolar DM, Leshner RT. Muscular Dystrophies in Pediatric Neurology.

      Principals and Practice, 4th Edition, edited by KF Swaiman, S Ashwal and DM Ferriero; Mosby, Elsevier Philadelphia. 2006, pp 1969-2015, 5th Edition, now in press for release 2011.

      Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Salett V, Wali GM, Eiroa HE, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland

      K, Kusmierska K, Tijssen MAJ, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thony B, Blau N, Sepiapterin Reductase Deficiency: a treatable mimic of cerebral palsy. Annals of Neurology, 71(4):520-30, 2012.

      Friedman J, Olvera Silhavy JL, Gabriel SB,

      Gleeson JG. Mild Paroxyamsl Kinesigenic Dyskinesia Caused by PRRT2 Missense Mutation with Reduced Penetrance. Neurology, 28;79(9):946-8, 2012.

      Gold JJ and Crawford JR Acute Hemiparesis in a Child as a Presenting Symptom of Hemispheric Cerebral Proliferative Angiopathy.

      Case Rep Neurol Med, 2013;2013:327647.

      Gonda DD, Meltzer HS, Crawford JR,

      Hilfiker ML, Shellington DK, Peterson BM, Levy ML. Complications associated with prolonged hypertonic saline therapy in children with elevated intracranial pressure. Pediatr Crit Care Med, 14(6):610-20, 2013.

      Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam

      GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology, 25;76(4):373-82, 2011.

      Harbert MJ, Jett M, Appelbaum M, Nass R, Trauner D. Perinatal risk factors and later social, thought and attention problems after perinatal stroke.

      Stroke Research and Treatment, Epubl May 2012.

      Huang MX, Nichols S, Robb A, Angeles A, Drake A, Holland M, Asmussen S, D'Andrea J, Chun W, Levy M, Cui L,

      Song T, Baker DG, Hammer P, McLay R, Theilmann RJ, Coimbra R, Diwakar M, Boyd C, Neff J, Liu TT, Webb-Murphy J, Farinpour R, Cheung C, Harrington DL, Heister D & Lee RR. An automatic MEG low-frequency source imaging approach for detecting injuries in mild and moderate TBI patients with blast and non-blast causes.

      Neuroimage, 61(4): 1067-82, 2012.

      Lancaster MA, Gopal D, Kim J, Saleem

      SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG. Defective Wnt-dependent cerebellar midline fusion in Joubert syndrome in humans and mice. Nat Med, 17(6):726-31, 2011.

      Lancaster MA, Schroth J, Gleeson JG. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.

      Nat Cell Biol, 13(6):702-9, 2011.

      Lee JE, Gleeson JG. Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

      Curr Opin Neurol, 24(2):98-105, 2011.

      Lyle CL, Crawford JR Neurodiagnostic Principles. In:

      Tumors of the Central Nervous System, 2nd Edition, edited by RF Keating, JT Goodrich, RJ Packer, 2nd Edition, Thieme New York (in press).

      Malee K, Williams P, Montepiedra G, Mc

      Cabe M, Nichols S, Sirois PA, Storm D, Farley J, Kammerer B; PACTG 219C Team. Medication adherence in children and adolescents with HIV infection: associations with behavioral impairment. AIDS Patient Care STDS, 25(3): 191-200, 2011.

      Marín O, Gleeson JG. Function follows form: understanding brain function from a genetic perspective.

      Curr Opin Genet Dev, 21(3):237-9, 2011.

      Naar-King S, Montepiedra G, Garvie P, Kammerer B, Malee K, Sirois PA, Aar

      on L & Nichols SL, for the PACTG P1042s Team. (2013). Social ecological predictors of longitudinal HIV treatment adherence in youth with perinatally acquired HIV. Journal of Pediatric Psychology, epub before print.

      Nass R, Trauner DA. Developmental language disorders. In:

      Pediatric Neurology: Principles and Practice, Stephen Ashwal Elsevier Publ., 2012.

      Nichols SL, Montepiedra G, Farley JJ, Sirois

      PA, Malee K, Kammerer B, Garvie PA, Naar-King S for the PACTG P1042s team. Cognitive, academic and behavioral correlates of medication adherence in children and adolescents withperinatally acquired HIV infection. Journal of Developmental and Behavioral Pediatrics, 33(4):298-308, 2012.

      Niemiec S, Ballantyne A, Trauner D. cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers.

      American Journal of Medical Genetics, 158A(8):1902-8, 2012.

      Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati MD,

      Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney JM and McDonald CM on behalf of the Cooperative International Neuromuscular Research Group: SSP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: Neurology, 18 (3) 219-26, 2011.

      Powers WJ, Haas RH, Le T, Videen TO, Markham J, Perlmutter JS. Platelet mitochondrial complex I and I+III activities do not correlate with cerebral mitochondrial oxidative metabolism.

      J Cereb Blood Flow Metab, 31(1):e 1-5, 2011.

      Qiu Z, Sylwestrak EL, Lieberman DN, Zhang Y, Liu XY, Ghosh A. (2012) The Rett Syndrome protein MeCP2 regulates synaptic scaling.

      J. Neurosci, 32: 989-994.

      Ravikumar S, Crawford JR. Role of Carbamazepine in the Symptomatic Treatment of Subacute Sclerosing Panencephalitis: Case Report and Review of the Literature.

      Case Rep Neurol Med, 2013; 2013:327647.

      Shangle CE, Haas RH, Vaida F, Rich WD, Finer NN. Effects of endotracheal intubation and surfactant on a 3-channel neonatal electroencephalogram.

      J Pediatr, 161(2):252-7, 2012.

      Sharpe CM, Capparelli EV, Mower A, Farrell MJ, Soldin SJ, Haas RH. A seven-day study of the pharmacokinetics of intravenous levetiracetam in neonates: marked changes in pharmacokinetics occur during the first week of life.

      Smith M, Flodman PL, Gargus JJ, Simon

      MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta, 2012 Apr (7) doi:10.1016.

      Smith R, Chernoff M, Williams PL, Malee

      KM, Sirois PA, Kammerer B, Wilkins M, Nichols S, Mellins C, Usitalo A, Garvie P, Rutstein R; for the Pediatric HIVAIDS Cohort Study (PHACS) Team. (2012). Impact of HIV Severity on Cognitive and Adaptive Functioning during Childhood and Adolescence. Pediatr Infect Dis J, 31: 592-598, 2012.

      Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Sala

      jegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG; Consortium for Clinical Investigation of Neurologic Channelopathies. (RT Leshner on DSMB) Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA, 2012 Oct 3;308(13):1357-65.

      Thareja T, Ballantyne A, Trauner D. Spatial analysis after perinatal stroke: patterns of neglect and exploration in extra-personal space.

      Brain and Cognition, 79(2):107-116, 2012.

      Stiles, Reilly, Levine, Trauner, Nass 2012.

      Neural Plasticity and Cognitive Development. Insights from Children with Perinatal Brain Injury. Oxford University Press.

      Trauner DA. Cystinosis and the Brain. 2013, Cystinosis Research Foundation.

      Trauner DA. Spatial attention, working memory and executive function. In: Stiles, Reilly, Levine, Trauner, Nass.

      Neural Plasticity and Cognitive Development: Insights from Children with Perinatal Brain Injury. 2012, Chapter 5 Oxford University Press.

      Trauner DA. Reye syndrome.

      Encyclopedia of Clinical Neurosciences (Aminoff M and Daroff R, eds.). Elsevier Publ. Co., Oxford UK, 2012.

      Trauner DA, Eshagh K, Ballantyne AO, Bates E. Early language development after perinatal stroke.

      Brain and Language 2013, May 24.

      Trauner DA. Clinical implications. In: Stiles, Reilly, Levine, Trauner, Nass.

      Neural Plasticity and Cognitive Development: Insights from Children with Perinatal Brain Injury. 2012, Chapter 5 Oxford University Press.

      Trauner DA. Reye syndrome. In:

      Encyclopedia of Clinical Neurosciences, Aminoff M and Daroff R eds., Elsevier Publ co, Oxford UK, 2012.

      Udaka YT, Yeh-Nayre LA, Amene CS, VandenBerg SR, Levy ML, Crawford JR. Recurrent Pediatric Central Nervous System Low-Grade Gliomas: The Role of Surveillance Neuroimaging in Asymptomatic Children.

      J Neurosurg Pediatr, 11:119-126, 2013.

      van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, Hagemans ML, van der Ploeg AT. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.

      J Inherit Metab Dis, 35(2):317-23, 2012.

      Viltz L, Trauner DA. Effect of age of treatment on cognitive performance in cystinosis patients.

      Journal of Pediatrics, 2013, Feb 22.

      Yeh-Nayre LA, Malicki DM, Vinocur DN, Crawford JR. Medulloblastoma with Excessive Nodularity. Radiographic and Pathologic Correlates.

      Case Rep Radiol, 2012; 2012:310359.

      Zhang C, Huang VH, Simon M, Sharma LK, Fan W, Haas R, Wallace DC, Bai Y, Huang T. Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.

      FASEB J, 26, 4914-4924, 2012.

      Pediatr Res, 72(1):43-9, 2012.