Search Results - "TAYLOR, Julie P"

LRRK2 in Parkinson's disease: protein domains and functional insights by Mata, Ignacio F., Wedemeyer, William J., Farrer, Matthew J., Taylor, Julie P., Gallo, Kathleen A.

“…Parkinson's disease (PD) is the most common motor neurodegenerative disease. Mutations in the gene encoding leucine-rich repeat kinase 2 ( LRRK2) have been…”
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Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations by Kachergus, Jennifer, Mata, Ignacio F., Hulihan, Mary, Taylor, Julie P., Lincoln, Sarah, Aasly, Jan, Gibson, J. Mark, Ross, Owen A., Lynch, Timothy, Wiley, Joseph, Payami, Haydeh, Nutt, John, Maraganore, Demetrius M., Czyzewski, Krzysztof, Styczynska, Maria, Wszolek, Zbigniew K., Farrer, Matthew J., Toft, Mathias

“…Autosomal dominant parkinsonism has been attributed to pathogenic amino acid substitutions in leucine-rich repeat kinase 2 (LRRK2). By sequencing multiplex…”
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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases by Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin, Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

“…Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of…”
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Lrrk2 pathogenic substitutions in Parkinson's disease by MATA, Ignacio F, KACHERGUS, Jennifer M, LAHOZ, Carlos, WSZOLEK, Zbigniew K, FARRER, Matthew J, TAYLOR, Julie P, LINCOLN, Sarah, AASLY, Jan, LYNCH, Timothy, HULIHAN, Mary M, COBB, Stephanie A, WU, Ruey-Meei, LU, Chin-Song

“…Leucine-rich repeat kinase 2 (LRRK2) mutations have been implicated in autosomal dominant parkinsonism, consistent with typical levodopa-responsive Parkinson's…”
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Identification of potential protein interactors of Lrrk2 by Dächsel, Justus C, Taylor, Julie P, Mok, Su San, Ross, Owen A, Hinkle, Kelly M, Bailey, Rachel M, Hines, Jacob H, Szutu, Jennifer, Madden, Benjamin, Petrucelli, Leonard, Farrer, Matthew J

“…Abstract Pathogenic substitutions in the Lrrk2 protein have been shown to be an important cause of both familial and sporadic parkinsonism. The molecular…”
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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum by McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

“…Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as…”
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A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships by Taylor, Julie P., Malhotra, Alka, Burns, Nicole J., Clause, Amanda R., Brown, Carolyn M., Burns, Brendan T., Chandrasekhar, Anjana, Schlachetzki, Zinayida, Bennett, Maren, Thorpe, Erin, Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

“…The use of whole‐genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the…”
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt by Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, Shinawi, Marwan

“…Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11…”
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon by Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, Nordgren, Ann

“…In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately…”
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Leucine-rich repeat kinase 1 : a paralog of LRRK2 and a candidate gene for Parkinson's disease by TAYLOR, Julie P, HULIHAN, Mary M, GASSER, Thomas, PAYAMI, Haydeh, WSZOLEK, Zbigniew K, FARRER, Matthew J, KACHERGUS, Jennifer M, MELROSE, Heather L, LINCOLN, Sarah J, HINKLE, Kelly M, STONE, Jeremy T, ROSS, Owen A, HAUSER, Robert, AASLY, Jan

“…Leucine-rich repeat kinase 1 gene (LRRK1) on chromosome 15q26.3 is a paralog of LRRK2 in which multiple substitutions were recently linked to Parkinson's…”
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LRRK2: a common pathway for parkinsonism, pathogenesis and prevention? by Taylor, Julie P., Mata, Ignacio F., Farrer, Matt J.

“…The presence of α-synuclein Lewy body pathology is used to distinguish Parkinson's disease from parkinsonism, for which a broader spectrum of neuropathologies,…”
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Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred Syndrome by Taylor, Julie P., Metcalfe, Russell A., Watson, Philip F., Weetman, Anthony P., Trembath, Richard C.

“…Pendred syndrome (PDS) is an autosomal recessive disorder characterized by deafness and goiter. Phenotypic heterogeneity is observed in affected individuals,…”
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LRRK2 R1441G in Spanish patients with Parkinson's disease by Mata, Ignacio F., Taylor, Julie P., Kachergus, Jennifer, Hulihan, Mary, Huerta, Cecilia, Lahoz, Carlos, Blazquez, Marta, Guisasola, Luis M., Salvador, Carlos, Ribacoba, Renee, Martinez, Carmen, Farrer, Matthew, Alvarez, Victoria

“…Pathogenic mutations in leucine-rich repeat kinase 2 ( LRRK2; PARK8) have been implicated in autosomal dominant, late-onset Parkinson's disease (PD). The LRRK2…”
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Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2 by Dächsel, Justus C., Mata, Ignacio F., Ross, Owen A., Taylor, Julie P., Lincoln, Sarah J., Hinkle, Kelly M., Huerta, Cecilia, Ribacoba, Renee, Blazquez, Marta, Alvarez, Victoria, Farrer, Matthew J.

“…The complex genetic etiology of Parkinson's disease (PD) is indicative of a multifactorial syndrome. A combination of gene–gene and gene–environment…”
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Heterodimerization of Lrrk1–Lrrk2: Implications for LRRK2-associated Parkinson disease by Dachsel, Justus C., Nishioka, Kenya, Vilariño-Güell, Carles, Lincoln, Sarah J., Soto-Ortolaza, Alexandra I., Kachergus, Jennifer, Hinkle, Kelly M., Heckman, Michael G., Jasinska-Myga, Barbara, Taylor, Julie P., Dickson, Dennis W., Gibson, Rachel A., Hentati, Faycal, Ross, Owen A., Farrer, Matthew J.

“…LRRK2 mutations are recognized as the most frequent genetic cause of both familial and sporadic parkinsonism identified to date. A remarkable feature of this…”
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Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD by Gosal, David, Ross, Owen A., Wiley, Joe, Irvine, G. Brent, Johnston, Janet A., Toft, Mathias, Mata, Ignacio F., Kachergus, Jennifer, Hulihan, Mary, Taylor, Julie P., Lincoln, Sarah J., Farrer, Matthew J., Lynch, Timothy, Mark Gibson, J.

“…The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative…”
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P3-277 The role of molecular chaperones in the metabolism of tau by Taylor, Julie P., Petrucelli, Leonard, Kehoe, Kathryn, Hutton, Michael

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