Search Results - "Kolicheski, Ana L."

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S by Mantravadi, Vasudha, Bednarski, Jeffrey J, Ritter, Michelle A, Gu, Hongjie, Kolicheski, Ana L, Horner, Caroline, Cooper, Megan A, Kitcharoensakkul, Maleewan

“…The implementation of severe combined immunodeficiency (SCID) newborn screening has played a pivotal role in identifying these patients early in life as well…”
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Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy by Ivansson, Emma L., Megquier, Kate, Kozyrev, Sergey V., Murén, Eva, Körberg, Izabella Baranowska, Swofford, Ross, Koltookian, Michele, Tonomura, Noriko, Zeng, Rong, Kolicheski, Ana L., Hansen, Liz, Katz, Martin L., Johnson, Gayle C., Johnson, Gary S., Coates, Joan R., Lindblad-Toh, Kerstin

“…Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of amyotrophic lateral sclerosis (ALS)…”
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Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease by Heckman, Michael G., Labbé, Catherine, Kolicheski, Ana L., Soto-Beasley, Alexandra I., Walton, Ronald L., Valentino, Rebecca R., Brennan, Emily R., Johnson, Patrick W., Baheti, Saurabh, Sarangi, Vivekananda, Ren, Yingxue, Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A.

“…Genome-wide association studies (GWAS) have confirmed the leucine-rich repeat kinase 2 (LRRK2) gene as a susceptibility locus for idiopathic Parkinson's…”
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A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia by Kolicheski, Ana L., Johnson, Gary S., Mhlanga-Mutangadura, Tendai, Taylor, Jeremy F., Schnabel, Robert D., Kinoshita, Taroh, Murakami, Yoshiko, O’Brien, Dennis P.

“…Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A…”
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