Clinical Aspects of CAG Repeat Diseases

Autor Nance, Martha A.
Vydáno v Brain Pathol (2008)

Intronic pentanucleotide expansion in the replication factor 1 gene (RFC1) is a major cause of adult-onset ataxia

Autor Boesch, Sylvia M., Nance, Martha A.
Vydáno v Neurol Genet (2020)

Managing juvenile Huntington’s disease

Autor Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peggy, Paulsen, Jane S., Smith, Jonathan A., Squitieri, Ferdinando
Vydáno 2013

Treatment of Myoclonus-Dystonia Syndrome with Tetrabenazine

Autor Luciano, Angelo Y., Jinnah, H. A., Pfeiffer, Ronald F., Truong, Daniel D., Nance, Martha A., LeDoux, Mark S.
Vydáno v Parkinsonism Relat Disord (2014)

Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

Autor Züchner, Stephan, Wang, Gaofeng, Tran-Viet, Khanh-Nhat, Nance, Martha A., Gaskell, Perry C., Vance, Jeffery M., Ashley-Koch, Allison E., Pericak-Vance, Margaret A.
Vydáno 2006

Reliability and Validity of the HD-PROTriad™, a Health-Related Quality of Life Measure Designed to Assess the Symptom Triad of Huntington’s Disease

Autor Boileau, Nicholas R., Stout, Julie C., Paulsen, Janes S., Cella, David, McCormack, Michael K., Nance, Martha A., Frank, Samuel, Lai, Jin-Shei, Carlozzi, Noelle E.
Vydáno v J Huntingtons Dis (2017)

Experience, Knowledge, and Opinions about Childhood Genetic Testing in Batten Disease

Autor Adams, Heather R., Rose, Katherine, Augustine, Erika F., Kwon, Jennifer M., deBlieck, Elisabeth A., Marshall, Frederick J., Vierhile, Amy, Mink, Jonathan W., Nance, Martha A.
Vydáno 2013

Agreement between clinician-rated versus patient-reported outcomes in Huntington disease

Autor Carlozzi, Noelle E., Boileau, Nicholas R., Perlmutter, Joel S., Chou, Kelvin L., Stout, Julie C., Paulsen, Jane S., McCormack, Michael K., Cella, David, Nance, Martha A., Lai, Jin-Shei, Dayalu, Praveen
Vydáno v J Neurol (2018)

End of Life Measures in Huntington Disease: HDQLIFE Meaning and Purpose, Concern with Death and Dying, and End of Life Planning

Autor Carlozzi, Noelle E., Boileau, Nicholas R., Paulsen, Jane S., Perlmutter, Joel S., Lai, Jin-Shei, Hahn, Elizabeth A., McCormack, Michael K., Nance, Martha A., Cella, David, Barton, Stacey K., Downing, Nancy R.
Vydáno v J Neurol (2019)

Sex Differences in Clinical Features of Early, Treated Parkinson’s Disease

Autor Augustine, Erika F., Pérez, Adriana, Dhall, Rohit, Umeh, Chizoba C., Videnovic, Aleksandar, Cambi, Franca, Wills, Anne-Marie A., Elm, Jordan J., Zweig, Richard M., Shulman, Lisa M., Nance, Martha A., Bainbridge, Jacquelyn, Suchowersky, Oksana
Vydáno v PLoS One (2015)

Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment

Autor Nopoulos, Peggy C., Aylward, Elizabeth H., Ross, Christopher A., Mills, James A., Langbehn, Douglas R., Johnson, Hans J., Magnotta, Vincent A., Pierson, Ronald K., Beglinger, Leigh J., Nance, Martha A., Barker, Roger A., Paulsen, Jane S.
Vydáno 2011

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Autor Svenson, Ingrid K., Ashley-Koch, Allison E., Gaskell, P. Craig, Riney, Travis J., Cumming, W. J. Ken, Kingston, Helen M., Hogan, Edward L., Boustany, Rose-Mary N., Vance, Jeffery M., Nance, Martha A., Pericak-Vance, Margaret A., Marchuk, Douglas A.
Vydáno 2001

Clinical and Biomarker Changes in Premanifest Huntington Disease Show Trial Feasibility: A Decade of the PREDICT-HD Study

Autor Paulsen, Jane S., Long, Jeffrey D., Johnson, Hans J., Aylward, Elizabeth H., Ross, Christopher A., Williams, Janet K., Nance, Martha A., Erwin, Cheryl J., Westervelt, Holly J., Harrington, Deborah L., Bockholt, H. Jeremy, Zhang, Ying, McCusker, Elizabeth A., Chiu, Edmond M., Panegyres, Peter K.
Vydáno 2014

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Autor van der Walt, Joelle M., Nicodemus, Kristin K., Martin, Eden R., Scott, William K., Nance, Martha A., Watts, Ray L., Hubble, Jean P., Haines, Jonathan L., Koller, William C., Lyons, Kelly, Pahwa, Rajesh, Stern, Matthew B., Colcher, Amy, Hiner, Bradley C., Jankovic, Joseph, Ondo, William G., Allen Jr., Fred H., Goetz, Christopher G., Small, Gary W., Mastaglia, Frank, Stajich, Jeffrey M., McLaurin, Adam C., Middleton, Lefkos T., Scott, Burton L., Schmechel, Donald E., Pericak-Vance, Margaret A., Vance, Jeffery M.
Vydáno 2003

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Autor Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Vydáno v Am J Hum Genet (2016)

Neuropsychological profile of parkin mutation carriers with and without Parkinson disease: the CORE-PD study

Autor Caccappolo, Elise, Alcalay, Roy N., Mejia-Santana, Helen, Tang, Ming-X., Rakitin, Brian, Rosado, Llency, Louis, Elan D., Comella, Cynthia L., Colcher, Amy, Jennings, Danna, Nance, Martha A., Bressman, Susan, Scott, William K., Tanner, Caroline M., Mickel, Susan F., Andrews, Howard F., Waters, Cheryl, Fahn, Stanley, Cote, Lucien J., Frucht, Steven, Ford, Blair, Rezak, Michael, Novak, Kevin, Friedman, Joseph H., Pfeiffer, Ronald F., Marsh, Laura, Hiner, Brad, Siderowf, Andrew D., Ross, Barbara M., Verbitsky, Miguel, Kisselev, Sergey, Ottman, Ruth, Clark, Lorraine N., Marder, Karen S.
Vydáno 2010

Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled

Autor Li, Yi-Ju, Scott, William K., Hedges, Dale J., Zhang, Fengyu, Gaskell, P. Craig, Nance, Martha A., Watts, Ray L., Hubble, Jean P., Koller, William C., Pahwa, Rajesh, Stern, Matthew B., Hiner, Bradley C., Jankovic, Joseph, Allen, Jr., Fred H., Goetz, Christopher G., Mastaglia, Frank, Stajich, Jeffrey M., Gibson, Rachel A., Middleton, Lefkos T., Saunders, Ann M., Scott, Burton L., Small, Gary W., Nicodemus, Kristin K., Reed, Allison D., Schmechel, Donald E., Welsh-Bohmer, Kathleen A., Conneally, P. Michael, Roses, Allen D., Gilbert, John R., Vance, Jeffery M., Haines, Jonathan L., Pericak-Vance, Margaret A.
Vydáno 2002

Association of Single-Nucleotide Polymorphisms of the Tau Gene With Late-Onset Parkinson Disease

Autor Martin, Eden R., Scott, William K., Nance, Martha A., Watts, Ray L., Hubble, Jean P., Koller, William C., Lyons, Kelly, Pahwa, Rajesh, Stern, Matthew B., Colcher, Amy, Hiner, Bradley C., Jankovic, Joseph, Ondo, William G., Allen, Fred H., Goetz, Christopher G., Small, Gary W., Masterman, Donna, Mastaglia, Frank, Laing, Nigel G., Stajich, Jeffrey M., Ribble, Robert C., Booze, Michael W., Rogala, Allison, Hauser, Michael A., Zhang, Fengyu, Gibson, Rachel A., Middleton, Lefkos T., Roses, Allen D., Haines, Jonathan L., Scott, Burton L., Pericak-Vance, Margaret A., Vance, Jeffery M.
Vydáno 2001