Search Results - Lehky, Tanya J.
- Showing 1 - 20 results of 20
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UNRELATED UMBILICAL CORD BLOOD TRANSPLANT FOR JUVENILE METACHROMATIC LEUKODYSTROPHY: A FIVE-YEAR FOLLOW-UP IN THREE AFFECTED SIBLINGS by Cable, Casey, Finkel, Richard S, Lehky, Tanya J, Biassou, Nadia M, Wiggs, Edythe A, Bunin, Nancy, Pierson, Tyler Mark
Published 2010Text -
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Safe marginal resection of atypical neurofibromas in neurofibromatosis type 1 by Nelson, Charlie N., Dombi, Eva, Rosenblum, Jared S., Miettinen, Markku M., Lehky, Tanya J., Whitcomb, Patricia O., Hayes, Christina, Scott, Gretchen, Benzo, Sarah, Widemann, Brigitte C., Chittiboina, Prashant
Published 2019Text -
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Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study by Jha, Smita, Cowen, Edward W, Lehky, Tanya J, Alter, Katharine, Flynn, Lauren, Reynolds, James C, Lange, Eileen, Katz, James D, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy
Published 2019Text -
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Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies by Lehky, Tanya J., Sackstein, Paul, Tamura, Deborah, Quezado, Martha, Wu, Tianxia, Khan, Sikandar G., Patronas, Nicholas J., Wiggs, Edythe, Brewer, Carmen C., DiGiovanna, John J., Kraemer, Kenneth H.
Published 2021Text -
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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency by Grunseich, Christopher, Schindler, Alice B., Chen, Ke-lian, Bakar, Dara, Mankodi, Ami, Traslavina, Ryan, Ray-Chaudhury, Abhik, Lehky, Tanya J., Baker, Eva H., Maragakis, Nicholas J., Tifft, Cynthia J., Fischbeck, Kenneth H.
Published 2015Text -
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Clinical features of spinal and bulbar muscular atrophy by Rhodes, Lindsay E., Freeman, Brandi K., Auh, Sungyoung, Kokkinis, Angela D., La Pean, Alison, Chen, Cheunju, Lehky, Tanya J., Shrader, Joseph A., Levy, Ellen W., Harris-Love, Michael, Di Prospero, Nicholas A., Fischbeck, Kenneth H.
Published 2009Text -
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A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease by Burke, Elizabeth A., Reichard, Kyle E., Wolfe, Lynne A., Brooks, Brian P., DiGiovanna, John J., Hadley, Donald W., Lehky, Tanya J., Gropman, Andrea L., Tifft, Cynthia J., Gahl, William A., Toro, Camilo, Adams, David
Published 2020Text -
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Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat by Grunseich, Christopher, Kats, Ilona R., Bott, Laura C., Rinaldi, Carlo, Kokkinis, Angela, Fox, Derrick, Chen, Ke-lian, Schindler, Alice B., Mankodi, Ami K., Shrader, Joseph A., Schwartz, Daniel P., Lehky, Tanya J., Liu, Chia-Ying, Fischbeck, Kenneth H.
Published 2014Text -
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Neurologic involvement in patients with atypical Chediak-Higashi disease by Introne, Wendy J., Westbroek, Wendy, Cullinane, Andrew R., Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Published 2016Text -
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Neurologic involvement in patients with atypical Chediak-Higashi disease by Introne, Wendy J., Westbroek, Wendy, Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Malicdan, May Christine V., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Published 2017Text -
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ELECTRICAL IMPEDANCE MYOGRAPHY IN INDIVIDUALS WITH COLLAGEN 6 AND LAMININ α-2 CONGENITAL MUSCULAR DYSTROPHY: A CROSS-SECTIONAL AND 2-YEAR ANALYSIS by NICHOLS, CARMEL, JAIN, MINAL S., MEILLEUR, KATHERINE G., WU, TIANXIA, COLLINS, JAMES, WAITE, MELISSA R., DASTGIR, JAHANNAZ, SALMAN, ANAM, DONKERVOORT, SANDRA, DUONG, TINA, KELLER, KATHERINE, LEACH, MEGANNE E., LOTT, DONOVAN J., MCGUIRE, MICHELLE N., NELSON, LESLIE, RUTKOWSKI, ANNE, VUILLEROT, CAROLE, BÖNNEMANN, CARSTEN G., LEHKY, TANYA J.
Published 2017Text -
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Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations by Jha, Smita, Fratzl-Zelman, Nadja, Roschger, Paul, Papadakis, Georgios Z, Cowen, Edward W, Kang, Heeseog, Lehky, Tanya J, Alter, Katharine, Deng, Zuoming, Ivovic, Aleksandra, Flynn, Lauren, Reynolds, James C, Dasgupta, Abhijit, Miettinen, Markku, Lange, Eileen, Katz, James, Klaushofer, Klaus, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy
Published 2018Text -
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Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) by Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Donkervoort, Sandra, Jain, Mina, Hu, Ying, Lehky, Tanya J., Cruz, Pedro, Mullikin, James C., Bonnemann, Carsten, Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Published 2013Text -
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A randomised, placebo-controlled trial of dutasteride in spinal and bulbar muscular atrophy by Fernández-Rhodes, Lindsay E, Kokkinis, Angela D, White, Michelle J, Watts, Charlotte A, Auh, Sungyoung, Jeffries, Neal O, Shrader, Joseph A, Lehky, Tanya J, Li, Li, Ryder, Jennifer E, Levy, Ellen W, Solomon, Beth I, Harris-Love, Michael O, La Pean, Alison, Schindler, Alice B, Chen, CheunJu, Di Prospero, Nicholas A, Fischbeck, Kenneth H
Published 2011Text -
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy by Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.
Published 2021Text