Faculty publish their research regularly in peer-reviewed medical journals. These select recent publications illustrate the diverse nature of the department's clinical interests.
Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review. Child Neurol Open. 2021 Aug 5;8:2329048X211036137.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med. 2021 Aug 3.
Golomb MR. Neurological issues in COVID-19, summarized in verse. J Stroke Cerebrovasc Dis. 2020 Aug;29(8):104939.
Westmark CJ, Maloney B, Alisch RS,Sokol DK, Lahiri DK. FMRP Regulates the Nuclear Export of Adam9 and Psen1 mRNAs: Secondary Analysis of an N6-Methyladenosine Dataset. Sci Rep. 2020 Jul 1;10(1):10781.
Golomb MR, Ducis KA, Martinez ML. Bow Hunter's Syndrome in Children: A Review of the Literature and Presentation of a New Case in a 12-Year-Old Girl. J Child Neurol. 2020 Jun 8:8830.
Miller D, Kremer K. Frequent Awakenings and Fits with Aerobics. Pediatric Neurology. 2020 May;106:72-73.
Gulati D,Golomb MR. Adding an imaging score in the armamentarium: Pediatric ASPECTS for outcome prediction. Neurology. 2020 Mar 24;94(12):511-512.
Gervelis WL,Golomb MR. Mechanical Thrombectomy in Pediatric Stroke: Report of Three New Cases. J Stroke Cerebrovasc Dis. 2020 Feb;29(2):104551.
Archer J, Yaacoub AP, Angulo-Parker F, Fritsch G, Riner S, Coon A, Johnson SK,Delima S,et al. Pre- and Postoperative Gait Analysis and Video for Selective Dorsal Rhizotomy in Spastic Diplegia: 2-Dimensional Operative Video. Oper Neurosurg (Hagerstown). 2019 Sep 1;17(3):E103-E104.
Sokol DK, Maloney B, Westmark CJ, Lahiri DK. Novel Contribution of Secreted Amyloid-β Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder. Front Psychiatry. 2019 Apr 10;10:165.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG,Walsh LE, et al. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr;21(4):867-876.
Janson IA, Nittoli V, White D,Tekulve KJ. Return-to-Learn Accommodations and Concussion Perceptions Among Indiana High School Principals. J Head Trauma Rehabil. 2019 Jan/Feb;34(1):E10-E17.
Sokol DK, Lahiri DK. The molecular basis of autism, amyloid precursor protein and its relevance to neuropsychology: Case study and neuropathology of boy with autism. Arch Clin Neuropsychology, 2019; 34:223.
Nelson K, Jackman C, Bell J, Shih CS, Payne K, Dlouhy S,Walsh L.Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment. J Child Neurol. 2018 Dec;33(14):925-929.
Crawford LB,Golomb MR. Childhood Stroke and Vision: A Review of the Literature. Pediatr Neurol. 2018 Apr;81:6-13.
Christensen CK,Walsh L. Movement Disorders and Neurometabolic Diseases. Semin Pediatr Neurol. 2018 Apr;25:82-91.
Brinkley KM, Ayers MD,Sokol DK. Complete Atrioventricular Heart Block From an Epilepsy Treatment. Pediatr Neurol. 2018 Mar;80:90-91.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R,Walsh L, et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet. 2018 Feb 1;102(2):309-320.
Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K,Walsh L, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017 Aug;19(8):962.
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE,Walsh LE, et al. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 6;101(1):139-148.
Ray B,Sokol DK, Maloney B, Lahiri DK. Finding novel distinctions between the sAPPα-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. Sci Rep. 2016 May 23;6:26052.
Ray B, Sokol DK, Maloney B, Lahiri DK. Finding novel distinctions between the sAPPα-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. Sci Rep. 2016 May 23;6:26052.