OpenURL Connection Search

Select item for more details and to access through your institution.

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
Published in:
2021
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.
Publication type:
journal article
In Situ PCR for the Detection of HTLV-I in HAM/TSP Patients.
Published in:
Annals of the New York Academy of Sciences, 1994, v. 724, n. 1, p. 404, doi. 10.1111/j.1749-6632.1994.tb38939.x
By:
- WALTER, MATTHEW J.;
- LEHKY, TANYA J.;
- FOX, CECIL H.;
- JACOBSON, STEVEN
Publication type:
Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1709, doi. 10.1007/s00439-021-02379-9
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.
Publication type:
Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
By:
- Donkervoort, Sandra;
- Mohassel, Payam;
- Laugwitz, Lucia;
- Zaki, Maha S.;
- Kamsteeg, Erik‐Jan;
- Maroofian, Reza;
- Chao, Katherine R.;
- Verschuuren‐Bemelmans, Corien C.;
- Horber, Veronka;
- Fock, Annemarie J. M.;
- McCarty, Riley M.;
- Jain, Minal S.;
- Biancavilla, Victoria;
- McMacken, Grace;
- Nalls, Matthew;
- Voermans, Nicol C.;
- Elbendary, Hasnaa M.;
- Snyder, Molly;
- Cai, Chunyu;
- Lehky, Tanya J.
Publication type:
Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
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
Publication type:
Article
Electrical impedance myography in healthy volunteers.
Published in:
Muscle & Nerve, 2024, v. 69, n. 3, p. 288, doi. 10.1002/mus.27978
By:
- Offit, Michelle B.;
- Mohammad Khanli, Hadi;
- Wu, Tianxia;
- Lehky, Tanya J.
Publication type:
Article
HTLV-I/II Seroindeterminate Western Blot Reactivity in a Cohort of Patients with Neurological...
Published in:
Journal of Infectious Diseases, 1999, v. 180, n. 3, p. 685, doi. 10.1086/314923
By:
- Soldan, Samantha S.;
- Graf, Michael D.;
- Waziri, Allen;
- Flerlage, Alfred N.;
- Robinson, Susan M.;
- Kawanishi, Taketo;
- Leist, Thomas P.;
- Lehky, Tanya J.;
- Levin, Michael C.;
- Jacobson, Steven
Publication type:
Article
Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.
Published in:
2020
By:
- Kang, Peter B.;
- McMillan, Hugh J.;
- Kuntz, Nancy L.;
- Lehky, Tanya J.;
- Alter, Katharine E.;
- Fitzpatrick, Kevin F.;
- El Kosseifi, Charbel;
- Quijano‐Roy, Susana;
- Quijano-Roy, Susana;
- Professional Practice Committee of the American Association of Neuromuscular & Electrodiagnostic Medicine
Publication type:
journal article
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Published in:
2018
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.
Publication type:
journal article
Peripheral nervous system manifestations of Chediak-Higashi disease.
Published in:
2017
By:
- Lehky, Tanya J.;
- Groden, Catherine;
- Lear, Barbara;
- Toro, Camilo;
- Introne, Wendy J.
Publication type:
journal article
Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype.
Published in:
2016
By:
- Schanz, Olivia;
- Bageac, Devin;
- Braun, Laura;
- Traynor, Bryan J.;
- Lehky, Tanya J.;
- Floeter, MARY Kay
Publication type:
journal article
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
Published in:
2016
By:
- Schwartz, Daniel P.;
- Dastgir, Jahannaz;
- Salman, Anam;
- Lear, Barbara;
- Bönnemann, Carsten G.;
- Lehky, Tanya J.
Publication type:
journal article
Standard and modified statistical mune evaluations in spinal-bulbar muscular atrophy.
Published in:
Muscle & Nerve, 2009, v. 40, n. 5, p. 809, doi. 10.1002/mus.21399
By:
- Lehky, Tanya J.;
- Chen, Cheun Ju;
- di Prospero, Nicholas A.;
- Rhodes, Lindsay E.;
- Fischbeck, Kenneth;
- Floeter, Mary Kay
Publication type:
Article
Safe marginal resection of atypical neurofibromas in neurofibromatosis type 1.
Published in:
Journal of Neurosurgery, 2020, v. 133, n. 5, p. 1516, doi. 10.3171/2019.7.JNS191353
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
Publication type:
Article
Clinical features of spinal and bulbar muscular atrophy.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 12, p. 3242, doi. 10.1093/brain/awp258
By:
- Rhodes, Lindsay E.;
- Freeman, Brandi K.;
- Sungyoung Auh;
- Kokkinis, Angela D.;
- Pean, Alison La;
- Cheunju Chen;
- Lehky, Tanya J.;
- Shrader, Joseph A.;
- Levy, Ellen W.;
- Harris-Love, Michael;
- Di Prospero, Nicholas A.;
- Fischbeck, Kenneth H.
Publication type:
Article
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Published in:
Journal of Bone & Mineral Research, 2019, v. 34, n. 1, p. 145, doi. 10.1002/jbmr.3577
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
Publication type:
Article
Reduction in HTLV-I proviral load and spontaneous lymphoproliferation in HTLV-I-associated myelopathy/tropical spastic paraparesis patients treated with humanized anti-tac.
Published in:
Annals of Neurology, 1998, v. 44, n. 6, p. 942, doi. 10.1002/ana.410440613
By:
- Lehky, Tanya J.;
- Levin, Michael C.;
- Kubota, Ryuji;
- Bamford, Richard N.;
- Flerlage, Alfred N.;
- Soldan, Samantha S.;
- Leist, Thomas P.;
- Xavier, Andrew;
- White, Jeffrey D.;
- Brown, Margaret;
- Fleisher, Thomas A.;
- Top, Lois E.;
- Light, Susan;
- McFarland, Henry F.;
- Waldmann, Thomas A.;
- Jacobson, Steven
Publication type:
Article
Human T-cell lymphotropic virus type II-associated myelopathy: Clinical and immunologic profiles.
Published in:
Annals of Neurology, 1996, v. 40, n. 5, p. 714, doi. 10.1002/ana.410400507
By:
- Lehky, Tanya J.;
- Flerlage, Nicholas;
- McFarland, Henry F.;
- Jacobson, Steven;
- Katz, David;
- Houff, Sidney;
- Hall, Willaim H.;
- Ishii, Kazuyoshi;
- Monken, Claude;
- Dhib-Jalbut, Suhayl
Publication type:
Article
Detection of human T-lymphotropic virus type I (HTLV-I) tax RNA in the central nervous system of HTLV-I-associated myelopathy/tropical spastic paraparesis patients by in situ hybridization.
Published in:
Annals of Neurology, 1995, v. 37, n. 2, p. 167, doi. 10.1002/ana.410370206
By:
- Lehky, Tanya J.;
- Levin, Michael C.;
- Flerlage, Nick;
- Jacobson, Steven;
- Fox, Cecil H.;
- Koenig, Scott;
- Izumo, Shuji;
- Sato, Elichi;
- Osame, Mitsuhiro;
- Raine, Cedric S.
Publication type:
Article
Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.
Published in:
JBMR Plus, 2019, v. 3, n. 8, p. N.PAG, doi. 10.1002/jbm4.10214
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
Publication type:
Article

Found: 20