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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Among authors: hanspal e. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P. Hayflick SJ, et al. Among authors: hanspal e. Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17. Brain. 2013. PMID: 23687123 Free PMC article.
A disease-specific metabolic brain network associated with corticobasal degeneration.
Niethammer M, Tang CC, Feigin A, Allen PJ, Heinen L, Hellwig S, Amtage F, Hanspal E, Vonsattel JP, Poston KL, Meyer PT, Leenders KL, Eidelberg D. Niethammer M, et al. Among authors: hanspal e. Brain. 2014 Nov;137(Pt 11):3036-46. doi: 10.1093/brain/awu256. Epub 2014 Sep 9. Brain. 2014. PMID: 25208922 Free PMC article.
The Influence of Bilateral Subthalamic Nucleus Deep Brain Stimulation on Impulsivity and Prepulse Inhibition in Parkinson's Disease Patients.
Gee L, Smith H, De La Cruz P, Campbell J, Fama C, Haller J, Ramirez-Zamora A, Durphy J, Hanspal E, Molho E, Barba A, Shin D, Pilitsis JG. Gee L, et al. Among authors: hanspal e. Stereotact Funct Neurosurg. 2015;93(4):265-70. doi: 10.1159/000381558. Epub 2015 Jun 10. Stereotact Funct Neurosurg. 2015. PMID: 26066569 Free PMC article. Clinical Trial.
Use of Functional Magnetic Resonance Imaging to Assess How Motor Phenotypes of Parkinson's Disease Respond to Deep Brain Stimulation.
DiMarzio M, Madhavan R, Joel S, Hancu I, Fiveland E, Prusik J, Gillogly M, Rashid T, MacDonell J, Ashe J, Telkes I, Feustel P, Staudt MD, Shin DS, Durphy J, Hwang R, Hanspal E, Pilitsis JG. DiMarzio M, et al. Among authors: hanspal e. Neuromodulation. 2020 Jun;23(4):515-524. doi: 10.1111/ner.13160. Epub 2020 May 5. Neuromodulation. 2020. PMID: 32369255
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