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1

Huntington disease

Bates, Gillian P., Dorsey, Ray, Gusella, James F., Hayden, Michael R., Kay, Chris, Leavitt, Blair R., Nance, Martha, Ross, Christopher A., Scahill, Rachael I., Wetzel, Ronald, Wild, Edward J., Tabrizi

Journal:

Nature Reviews Disease Primers

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

2

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

Sofia A. Oliveira, William K. Scott, Eden R. Martin, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, Rajesh Pahwa, Matthew B. Stern, Bradley C. Hiner, William G. Ondo, Fred H. Allen

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 88 KB

english, 2003

3

GENETIC TESTING IN NEUROLOGY

Nance, Martha A.

Journal:

CONTINUUM: Lifelong Learning in Neurology

Year:

2008

Language:

english

File:

PDF, 158 KB

english, 2008

4

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

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.

Journal:

Journal of Huntington's Disease

Year:

2017

Language:

english

File:

PDF, 116 KB

english, 2017

5

[Handbook of Clinical Neurology] Huntington Disease Volume 144 || Genetics of Huntington disease

Nance, Martha A.

Year:

2017

Language:

english

File:

PDF, 274 KB

english, 2017

6

Use and perceived effectiveness of complementary therapies in Parkinson's disease

Donley, Sarah, McGregor, Sadie, Wielinski, Catherine, Nance, Martha

Journal:

Parkinsonism & Related Disorders

Year:

2018

Language:

english

File:

PDF, 644 KB

english, 2018

7

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

Boesch, Sylvia M., Nance, Martha A.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 160 KB

2020

8

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

Arena, J. Fernando, Schwartz, Charles, Ouzts, Lisbeth, Stevenson, Roger, Miller, Marvin, Garza, Judith, Nance, Martha, Lubs, Herbert

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 848 KB

english, 1996

9

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

Anderson, Jennifer L., Khan, Mehmood, David, William S., Mahdavi, Zohreh, Nuttall, Frank Q., Krech, Elizabeth, West, Sandra G., Vance, Jeffery M., Pericak-Vance, Margaret A., Nance, Martha A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 381 KB

english, 1999

10

Heterogeneity in Paget disease of the bone

Martha A. Nance, Frank Q. Nuttall, Michael J. Econs, Kenneth W. Lyles, Kristi D. Viles, Jeffery M. Vance, Margaret A. Pericak-Vance, Marcy C. Speer

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

11

Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7

Rong Mao, Arthur S. Aylsworth, Nicholas Potter, William G. Wilson, Galen Breningstall, Myra J. Wick, Dusica Babovic-Vuksanovic, Martha Nance, Marc C. Patterson, Christopher M. Gomez, Karen Snow

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 161 KB

english, 2002

12

Protocol for genetic testing in Huntington disease: Three years of experience in Minnesota

Martha A. Nance, Bonnie S. Leroy, Harry T. Orr, Terry Parker, Stephen S. Rich, Leonard L. Heston

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 559 KB

english, 1991

13

Cockayne syndrome: Review of 140 cases

M.D. Martha A. Nance, Susan A. Berry

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 1.84 MB

english, 1992

14

Diagnosis of Huntington Disease: Model for a predictive testing program based on understanding the stages of psychological response

Martha A. Nance, Carol J. Ludowese

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 147 KB

english, 1994

15

Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) Kindreds

Dr. Martha A. Nance, Ellen A. Sevenich, Lawrence J. Schut

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 770 KB

english, 1994

16

Seeking clarity through the genetic lens: A work in progress

Martha A. Nance

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 49 KB

english, 2003

17

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado-joseph disease

Iscia Lopes-Cendes, Patrícia Maciel, Stephen Kish, Claudia Gaspar, Isabel Silveira, Yves Robitaille, H. Brent Clark, Arnulf H. Koeppen, Martha Nance, Lawrence Schut, Paula Coutinho, Jorge Sequeiros, D

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 805 KB

english, 1996

18

Challenges assessing clinical endpoints in early Huntington disease

Jane S. Paulsen, Chiachi Wang, Kevin Duff, Roger Barker, Martha Nance, Leigh Beglinger, David Moser, Janet K. Williams, Sheila Simpson, Douglas Langbehn, Daniel P. van Kammen

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 100 KB

english, 2010

19

Juvenile onset Huntington's disease—clinical and research perspectives

Martha A. Nance, Richard H. Myers

Journal:

Development Diabilities Research Reviews

Year:

2001

Language:

english

File:

PDF, 124 KB

english, 2001

20

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Jian-Liang Li, Michael R Hayden, Simon C Warby, Alexandra Durr, Patrick J Morrison, Martha Nance, Christopher A Ross, Russell L Margolis, Adam Rosenblatt, Ferdinando Squitieri, Luigi Frati, Estrella G

Journal:

BMC Medical Genetics

Year:

2006

Language:

english

File:

PDF, 538 KB

english, 2006

21

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Ingrid K. Svenson, Mark T. Kloos, P. Craig Gaskell, Martha A. Nance, James Y. Garbern, Shin-ichi Hisanaga, Margaret A. Pericak-Vance, Allison E. Ashley-Koch, Douglas A. Marchuk

Journal:

Year:

2004

Language:

english

File:

PDF, 222 KB

english, 2004

22

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

Stephan Züchner, Melanie E. Kail, Martha A. Nance, Perry C. Gaskell, Ingrid K. Svenson, Douglas A. Marchuk, Margaret A. Pericak-Vance, Allison E. Ashley-Koch

Journal:

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

23

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

Allison Ashley-Koch, Erin R. Bonner, P. Craig Gaskell, Sandra G. West, Richard Tim, Chantelle M. Wolpert, Rodney Jones, Carolyn D. Farrell, Martha Nance, Ingrid K. Svenson, Douglas A. Marchuk, Rose-Ma

Journal:

Year:

2001

Language:

english

File:

PDF, 83 KB

english, 2001

24

Clinical Aspects of CAG Repeat Diseases

Martha A. Nance

Journal:

Brain Pathology

Year:

1997

Language:

english

File:

PDF, 1.62 MB

english, 1997

25

Therapy in Huntington’s Disease: Where Are We?

Nance, Martha A.

Journal:

Current Neurology and Neuroscience Reports

Year:

2012

Language:

english

File:

PDF, 172 KB

english, 2012

26

Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region

Jong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Eliana Marisa Ramos, Richard H. Myers, Michael R. Hayden, Patrick J. Morrison, Martha Nance, Christopher A. Ross, Russell L. Margolis, Ferdinan

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1017 KB

english, 2012

27

Genetic testing in inherited ataxias

Journal:

Seminars in Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 180 KB

english, 2003

28

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease

Ji-Hyun Lee, Jong-Min Lee, Eliana Marisa Ramos, Tammy Gillis, Jayalakshmi S. Mysore, Shotaro Kishikawa, Tiffany Hadzi, Audrey E. Hendricks, Michael R. Hayden, Patrick J. Morrison, Martha Nance, Christ

Journal:

Biochemical and Biophysical Research Communications

Year:

2012

Language:

english

File:

PDF, 536 KB

english, 2012

29

Comprehensive care in Huntington's disease: A physician's perspective

Martha A. Nance

Journal:

Brain Research Bulletin

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

30

Striatal and white matter predictors of estimated diagnosis for Huntington disease

Jane S. Paulsen, Peggy C. Nopoulos, Elizabeth Aylward, Christopher A. Ross, Hans Johnson, Vincent A. Magnotta, Andrew Juhl, Ronald K. Pierson, James Mills, Douglas Langbehn, Martha Nance

Journal:

Brain Research Bulletin

Year:

2010

Language:

english

File:

PDF, 568 KB

english, 2010

31

A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease

L. Warren, R. Gibson, L. Ishihara, R. Elango, Z. Xue, A. Akkari, L. Ragone, Rajesh Pahwa, Joseph Jankovic, Martha Nance, Alan Freeman, Ray L. Watts, F. Hentati

Journal:

Parkinsonism & Related Disorders

Year:

2008

Language:

english

File:

PDF, 89 KB

english, 2008

32

Impulsive Behavior and Associated Clinical Variables in Parkinson's Disease

Aviva Abosch, Akshay Gupte, Lynn E. Eberly, Paul J. Tuite, Martha Nance, Jon E. Grant

Journal:

Year:

2011

Language:

english

File:

PDF, 292 KB

english, 2011

33

Laboratory Guidelines for Huntington Disease Genetic Testing

Martha A. Nance, William Seltzer, Tetsuo Ashizawa, Robin Bennett, Nathalie McIntosh, Richard H. Myers, Nicholas T. Potter, David K. Shea

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 254 KB

english, 1998

34

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

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

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 757 KB

english, 2001

35

Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled

Yi-Ju Li, William K. Scott, Dale J. Hedges, Fengyu Zhang, P. Craig Gaskell, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, Rajesh Pahwa, Matthew B. Stern, Bradley C. Hiner, Joseph J

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 482 KB

english, 2002

36

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Joelle M. van der Walt, Kristin K. Nicodemus, Eden R. Martin, William K. Scott, Martha A. Nance, Ray L. Watts, Jean P. Hubble, Jonathan L. Haines, William C. Koller, Kelly Lyons, Rajesh Pahwa, Matthew

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 701 KB

english, 2003

37

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

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

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 626 KB

english, 2006

38

Early detection of dementia in Huntington’s disease: The Predict-HD study

Jane S. Paulsen, Julie C. Stout, Elizabeth Aylward, Karl Kieburtz, Douglas Langbehn, Christopher Ross, Michael Hayden, Mark Guttman, Martha Nance, David Oakes

Journal:

Alzheimer's & Dementia

Year:

2005

Language:

english

File:

PDF, 48 KB

english, 2005

39

Managing juvenile Huntington’s disease

Quarrell, Oliver WJ, Nance, Martha A, Nopoulos, Peggy, Paulsen, Jane S, Smith, Jonathan A, Squitieri, Ferdinando

Journal:

Neurodegenerative Disease Management

Year:

2013

Language:

english

File:

PDF, 1.22 MB

english, 2013

40

A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases

Paulsen, Jane S., Nance, Martha, Kim, Ji-In, Carlozzi, Noelle E., Panegyres, Peter K., Erwin, Cheryl, Goh, Anita, McCusker, Elizabeth, Williams, Janet K.

Journal:

Progress in Neurobiology

Year:

2013

Language:

english

File:

PDF, 1.98 MB

english, 2013

41

Development of a battery-operated portable synchronous luminescence spectrofluorometer

Alarie, Jean Pierre, Vo-Dinh, Tuan, Miller, Gordon, Ericson, M. Nance, Maddox, S. Randall, Watts, Wendi, Eastwood, DeLyle, Lidberg, Russ, Dominguez, Martha

Journal:

Review of Scientific Instruments

Year:

1993

Language:

english

File:

PDF, 882 KB

english, 1993

42

Clinical, Demographic, and Pharmacologic Features of Nursing Home Residents With Huntington's Disease

Zarowitz, Barbara J., O'Shea, Terrence, Nance, Martha

Journal:

Journal of the American Medical Directors Association

Year:

2014

Language:

english

File:

PDF, 315 KB

english, 2014

43

Experience, knowledge, and opinions about childhood genetic testing in Batten disease

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.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 413 KB

english, 2014

44

Genetic Testing for Ataxia in North America

Nicholas T. Potter PhD,Martha A. Nance MD

Journal:

Molecular Diagnosis & Therapy

Year:

2000

Language:

english

File:

PDF, 1.83 MB

english, 2000

45

Treatment of myoclonus-dystonia syndrome with tetrabenazine

Luciano, Angelo Y., Jinnah, H.A., Pfeiffer, Ronald F., Truong, Daniel D., Nance, Martha A., LeDoux, Mark S.

Journal:

Parkinsonism & Related Disorders

Year:

2014

Language:

english

File:

PDF, 468 KB

english, 2014

46

The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study

Sharp, Madeleine E., Caccappolo, Elise, Mejia-Santana, Helen, Tang, Ming-X., Rosado, Llency, Orbe Reilly, Martha, Ruiz, Diana, Louis, Elan D., Comella, Cynthia, Nance, Martha, Bressman, Susan, Scott,

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

47

[Blue Books of Neurology] Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias Volume 31 || Chapter 18 Genetic Testing for Hereditary Ataxia and Hereditary Spastic Paraplegia

Nance, Martha A.

Year:

2007

Language:

english

File:

PDF, 197 KB

english, 2007

48

Complete Genomic Screen in Parkinson Disease

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, Willia

Journal:

JAMA The Journal of the American Medical Association

Year:

2001

Language:

english

File:

PDF, 162 KB

english, 2001

49

Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study

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,

Journal:

Journal of the International Neuropsychological Society

Year:

2011

Language:

english

File:

PDF, 111 KB

english, 2011

50

Association Study of Parkin Gene Polymorphisms With Idiopathic Parkinson Disease

Oliveira, Sofia A., Scott, William K., Nance, Martha A., Watts, Ray L., Hubble, Jean P., Koller, William C., Lyons, Kelly E., Pahwa, Rajesh, Stern, Matthew B., Hiner, Bradley C., Jankovic, Joseph, Ond

Journal:

Archives of Neurology

Year:

2003

Language:

english

File:

PDF, 93 KB

english, 2003