Selected Publications

 

Number of Grants Awarded Per Year: 

Selected Publications from Recent or Current Residents

(Resident, Faculty)
 
2019

Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 [Epub ahead of print].

 

Andzelm MM, Vanness D, Greenberg ME, Linden DJ. A Late Phase of Long-Term Synaptic Depression in Cerebellar Purkinje Cells Requires Activation of MEF2. Cell Rep 2019;26(5):1089-97 e3. PMCID: PMC6433166.

Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH. Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. Cold Spring Harb Mol Case Stud 2019;5(1). PMCID: PMC6371743.

 

Trowbridge SK, Yuskaitis CJ, Baumer N, Libenson M, Prabhu SP, Harini C. Brain MRI abnormalities in patients with infantile spasms and Down syndrome. Epilepsy Behav 2019;92:57-60.
 
2018
Bernson-Leung ME, Urion DK. The Child Neurology Trainee-as-Teacher: A Clinical Teaching Curriculum Tailored to Learners’ Needs and Developmental Roles. Pediatr Neurol 2018;78:41-5. PMCID: N/A.

Duke E, Ullrich NJ. A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma. Semin Pediatr Neurol 2018;26:124-7. PMCID: N/A.

Ebrahimi-Fakhari D. Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. Neuropediatrics 2018;49(1):18-25.

Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT, CureSPG47. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A 2018;176(2):311-8. PMCID: N/A.

Jayaraman D, Bae BI, Walsh CA. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet 2018;19:177-200.

Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT, CureSPG47. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A 2018;176(2):311-8.

Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract 2018;5(2):149-55. PMCID: PMC6005694.

Ebrahimi-Fakhari D, Moufawad El Achkar C, Klein C. PRRT2-Associated Paroxysmal Movement Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; ©1993-2018; 2018.

Ebrahimi-Fakhari D, Neubauer B, Plecko B, Wolf NI. Resident and Fellow Section in Neuropediatrics. Neuropediatrics 2018;49(4):229-30.

Goncalves I, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmuller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Scientific reports 2018;8(1):7907. PMCID: PMC5962575.

Goncalves I, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmuller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Scientific reports 2018;8(1):10294. PMCID: PMC6028438.

Harrar DB, Solomon J, Shah AS, Vaughn J, Durbin AD, Rivkin MJ. Diffusion-Weighted Imaging Changes in a Child With Posterior Ischemic Optic Neuropathy. Pediatr Neurol 2018;84:49-52.

Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugieres L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K,

Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernaiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schuz J, Johansen C, Andersen TV, Roosli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol 2018;19(6):785-98. PMCID: PMC5984248.

Winden KD, Ebrahimi-Fakhari D, Sahin M. Abnormal mTOR Activation in Autism. Annu Rev Neurosci 2018;41:1-23.
 
2017
Duke E, Pomeroy SL, Ullrich NJ. Neurologic complications of pediatric systemic cancer. In: Schiff D, Arrillaga I, Wen PY, editors. Cancer Neurology in Clinical Practice: Neurological Complications of Cancer and Its Treatment. 3rd ed. New York, NY: Springer; 2017.
 
Duke E, Ullrich NJ. A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma. Semin Pediatr Neurol 2018;26:124-7.
 
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Sahin M. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Autophagy 2017;13(4):754-6. PMCID: PMC5388227.
 
Lam HC, Baglini CV, Lope AL, Parkhitko AA, Liu HJ, Alesi N, Malinowska IA, Ebrahimi-Fakhari D, Saffari A, Yu JJ, Pereira A, Khabibullin D, Ogorek B, Nijmeh J, Kavanagh T, Handen A, Chan SY, Asara JM, Oldham WM, Diaz-Meco MT, Moscat J, Sahin M, Priolo C, Henske EP. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res 2017;77(12):3255-67. PMCID: PMC5485875.
 
Nagan M, Caffarelli M, Donatelli S, Rosman NP. Epilepsy or a Seizure Disorder? Parental Knowledge and Misconceptions About Terminology. J Pediatr 2017;191:197-203 e5.
 
Saffari A, Kolker S, Hoffmann GF, Ebrahimi-Fakhari D. Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. J Inherit Metab Dis 2017;40(5):631-40. PMCID: N/A.
 
2016
Comi AM, Sahin M, Hammill A, Kaplan EH, Juhasz C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES, Sturge-Weber Syndrome Research Workshop (with Abreu N and Pinto A). Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr Neurol 2016;58:12-24. PMCID: PMC5509161.
 
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Di Nardo A, Turner D, Lewis TL, Jr., Conrad C, Rothberg JM, Lipton JO, Kolker S, Hoffmann GF, Han MJ, Polleux F, Sahin M. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep 2016;17(4):1053-70. PMCID: PMC5078873. Core B.
 
Ebrahimi-Fakhari D, Saffari A, Wahlster L, DiNardo A, Turner D, Lewis TL, Jr., Conrad C, Rothberg JM, Lipton JO, Kolker S, Hoffmann GF, Han MJ, Polleux F, Sahin M. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep 2016;17(8):2162. PMCID: N/A.
 
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain 2016;139(Pt 2):317-37. PMCID: PMC Journal - In Process.
 
Shao D. Knocking on opportunity's door. Science 2016;354(6310):382.
 
2015
Andzelm MM, Cherry TJ, Harmin DA, Boeke AC, Lee C, Hemberg M, Pawlyk B, Malik AN, Flavell SW, Sandberg MA, Raviola E, Greenberg ME. MEF2D drives photoreceptor development through a genome-wide competition for tissue-specific enhancers. Neuron 2015;86(1):247-63. PMCID: PMC4393375.
 
DiMario FJ, Jr., Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am 2015;62(3):633-48. PMCID: PMC Journal - In Process. Core A.
 
Ebrahimi-Fakhari D, Sahin M. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol 2015;28(2):91-102. PMCID: PMC Journal - In Process. Core A.