L.J. Ozelius: search on Z-Library

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101

[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia–parkinsonism

Paolo Zanotti-Fregonara, Marie Vidailhet, Aurélie Kas, Laurie J. Ozelius, Fabienne Clot, Elif Hindié, Laura Ravasi, Jean-Yves Devaux, Emmanuel Roze

Journal:

Journal of the Neurological Sciences

Year:

2008

Language:

english

File:

PDF, 1.20 MB

english, 2008

102

Clinical spectrum of disease associated with ATP1A3 mutations

Laurie J Ozelius

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

103

Rapid-onset dystonia-parkinsonism

Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J., Breakefield, X. O.

Journal:

Year:

1993

Language:

english

File:

PDF, 1.00 MB

english, 1993

104

Genetics in Dystonia: An Update

Fuchs, Tania, Ozelius, Laurie J.

Journal:

Current Neurology and Neuroscience Reports

Year:

2013

Language:

english

File:

PDF, 192 KB

english, 2013

105

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17

Seizinger, B.R., Rouleau, G.A., Lane, A.H., Farmer, G., Ozelius, L.J., Haines, J.L., Parry, D.M., Korf, B.R., Pericak-Vance, M.A., Faryniarz, A.G., Hobbs, W.J., Iannazzi, J.A., Roy, J.C., Menon, A., B

Journal:

Year:

1987

Language:

english

File:

PDF, 247 KB

english, 1987

106

Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease

Barrett, M.J., Hagenah, J., Dhawan, V., Peng, S., Stanley, K., Raymond, D., Deik, A., Gross, S.J., Schreiber-Agus, N., Mirelman, A., Marder, K., Ozelius, L.J., Eidelberg, D., Bressman, S.B., Saunders-

Journal:

Parkinsonism & Related Disorders

Year:

2013

Language:

english

File:

PDF, 450 KB

english, 2013

107

Monoamine oxidase deficiency in males with an X chromosome deletion

Sims, K.B., de la Chapelle, A., Norio, R., Sankila, E-M., Hsu, Y.-P.P, Rinehart, W.B., Corey, T.J., Ozelius, L., Powell, J.F., Bruns, G.

Journal:

Year:

1989

Language:

english

File:

PDF, 1.47 MB

english, 1989

108

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Faryniarz, A.G., Chao, M.V., Huson, S., Korf, B.R., Parry, D.M., Pericak-Vance, M.A., Seizinger, B.R., Rouleau, G.A., Ozelius, L.J., Lane, A.H.

Journal:

Year:

1987

Language:

english

File:

PDF, 781 KB

english, 1987

109

Construction of a GT polymorphism map of human 9q

Kwiatkowski, David J., Henske, Elizabeth P., Weimer, Kim, Ozelius, Laurie, Gusella, James F., Haines, Jonathan

Journal:

Year:

1992

Language:

english

File:

PDF, 13.65 MB

english, 1992

110

Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet

Ulate-Campos, Adriana, Fons, Carmen, Artuch, Rafael, Castejón, Esperanza, Martorell, Loreto, Ozelius, Laurie, Pascual, Juan, Campistol, Jaume

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 406 KB

english, 2014

111

A genetic linkage map of human chromosome 9q

Ozelius, Laurie J., Kwiatkowski, David J., Schuback, Deborah E., Breakefield, Xandra O., Wexler, Nancy S., Gusella, James F., Haines, Jonathan L.

Journal:

Year:

1992

Language:

english

File:

PDF, 697 KB

english, 1992

112

Human monoamine oxidase gene (MAOA): Chromosome position (Xp21-p11) and DNA polymorphism

Ozelius, Laurie, Hsu, Yun-Pung P., Bruns, Gail, Powell, John F., Chen, Shiuan, Weyler, Walter, Utterback, Margot, Zucker, Deborah, Haines, Jonathan, Trofatter, James A.

Journal:

Year:

1988

Language:

english

File:

PDF, 1.61 MB

english, 1988

113

A genetic linkage map of chromosome 17

Haines, Jonathan L., Ozelius, Laurie J., McFarlane, Heather, Menon, Anil, Tzall, Stephanie, Martiniuk, Frank, Hirschhorn, Rochelle, Gusella, James F.

Journal:

Year:

1990

Language:

english

File:

PDF, 638 KB

english, 1990

114

A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34

Henske, Elizabeth P., Ozelius, Laurie, Anderson, Mary Ann, Kwiatkowski, David J.

Journal:

Year:

1992

Language:

english

File:

PDF, 6.68 MB

english, 1992

115

Longevity genotype is associated with a reduced rate of memory decline and reduced incidence of dementia: Results from the Einstein Aging Study

Lipton, Richard B., Sanders, Amy E., Ozelius, Laurie, Katz, Mindy, Derby, Carol A., Atzmon, Gil, Wang, Cuiling, Barzilai, Nir

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 46 KB

english, 2009

116

Genetic variability in the cholesteryl ester transfer protein (CETP) gene may buffer the effect of APOE-ε4 on incidence of amnestic mild cognitive impairment (aMCI): Results for the Einstein Aging Study (EAS)

Lipton, Richard, Wang, Cuiling, Katz, Mindy, Zimmerman, Molly, Derby, Carol, Verghese, Joe, Sanders, Amy, Ozelius, Laurie, Barzilai, Nir

Journal:

Alzheimer's & Dementia

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

117

Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene

Konradi, C., Ozelius, L., Breakefield, X.O.

Journal:

Year:

1992

Language:

english

File:

PDF, 275 KB

english, 1992

118

Association of a Missense Change in the D2 Dopamine Receptor with Myoclonus Dystonia

Christine Klein, Mitchell F. Brin, Patricia Kramer, Miguel Sena-Esteves, Deborah de Leon, Dana Doheny, Susan Bressman, Stanley Fahn, Xandra O. Breakefield and Laurie J. Ozelius

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1018 KB

english, 1999

119

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of theATP1A3gene: a neuropathologic and neuroanatomical study of four siblings

Oblak, Adrian L., Hagen, Matthew C., Sweadner, Kathleen J., Haq, Ihtsham, Whitlow, Christopher T., Maldjian, Joseph A., Epperson, Francine, Cook, Jared F., Stacy, Mark, Murrell, Jill R., Ozelius, Laur

Journal:

Acta Neuropathologica

Year:

2014

Language:

english

File:

PDF, 8.62 MB

english, 2014

120

LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

Ozelius, Laurie J., Senthil, Geetha, Saunders-Pullman, Rachel, Ohmann, Erin, Deligtisch, Amanda, Tagliati, Michele, Hunt, Ann L., Klein, Christine, Henick, Brian, Hailpern, Susan M., Lipton, Richard B

Journal:

Boston Medical and Surgical Journal

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

121

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

Vacic, V., Ozelius, L. J., Clark, L. N., Bar-Shira, A., Gana-Weisz, M., Gurevich, T., Gusev, A., Kedmi, M., Kenny, E. E., Liu, X., Mejia-Santana, H., Mirelman, A., Raymond, D., Saunders-Pullman, R., D

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 714 KB

english, 2014

122

Cognitive impairment in rapid-onset dystonia-parkinsonism

Cook, Jared F., Hill, Deborah F., Snively, Beverly M., Boggs, Niki, Suerken, Cynthia K., Haq, Ihtsham, Stacy, Mark, McCall, W. Vaughn, Ozelius, Laurie J., Sweadner, Kathleen J., Brashear, Allison

Journal:

Movement Disorders

Year:

2014

Language:

english

File:

PDF, 205 KB

english, 2014

123

Heterogeneity in primary dystonia: Lessons from THAP1 , GNAL , and TOR1A in Amish-Mennonites

Saunders-Pullman, Rachel, Fuchs, Tania, San Luciano, Marta, Raymond, Deborah, Brashear, Alison, Ortega, Robert, Deik, Andres, Ozelius, Laurie J., Bressman, Susan B.

Journal:

Movement Disorders

Year:

2014

Language:

english

File:

PDF, 256 KB

english, 2014

124

Linkage Analysis in a Family with Dominantly Inherited Torsion Dystonia: Exclusion of the Pro-Opiomelanocortin and Glutamic Acid Decarboxylase Genes and Other Chromosomal Regions Using DNA Polymorphisms

Breakefield, Xandra O., Bressman, Susan B., Kramer, Patricia L., Ozelius, Laurie, Moskowitz, Carol, Tanzi, Rudolph, Brin, Mitchell F., Hobbs, Wendy, Kaufman, Daniel, Tobin, Allan, Kidd, Kenneth K., Fa

Journal:

Journal of Neurogenetics

Year:

1986

Language:

english

File:

PDF, 918 KB

english, 1986

125

Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation

Tan, Ai Huey, Ozelius, Laurie J., Brashear, Allison, Lang, Anthony E., Ahmad-Annuar, Azlina, Tan, Chong Tin, Lim, Shen-Yang

Journal:

Movement Disorders Clinical Practice

Year:

2015

Language:

english

File:

PDF, 86 KB

english, 2015

126

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

Alcalay, Roy N., Mejia-Santana, Helen, Mirelman, Anat, Saunders-Pullman, Rachel, Raymond, Deborah, Palmese, Christina, Caccappolo, Elise, Ozelius, Laurie, Orr-Urtreger, Avi, Clark, Lorraine, Giladi, N

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 247 KB

english, 2015

127

Secondary dystonia and the DYTI gene

Bressman, S. B., de Leon, D., Raymond, D., Greene, P. E., Brin, M. F., Fahn, S., Ozelius, L. J., Breakefield, X. O., Kramer, P. L., Risch, N. J.

Journal:

Year:

1997

Language:

english

File:

PDF, 687 KB

english, 1997

128

The gelsolin (GSN) cDNA clone, from 9q32-34, identifies Bell and StuI RFLPs

Kwiatkowski, D.J., Ozelius, L., Schuback, D., Gusella, J., Breakefield, X.O.

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 169 KB

english, 1989

129

Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives

Gupte, Manisha, Alcalay, Roy N., Mejia-Santana, Helen, Raymond, Deborah, Saunders-Pullman, Rachel, Roos, Ernest, Orbe-Reily, Martha, Tang, Ming-X, Mirelman, Anat, Ozelius, Laurie, Orr-Urtreger, Avi, C

Journal:

Journal of Genetic Counseling

Year:

2015

Language:

english

File:

PDF, 820 KB

english, 2015

130

RFLP for human DBH (dopamine beta-hydroxylase)

Schuback, D.E., Ozelius, L., Hu, G., Craft, C.M., Raese, J., Breakefield, X.O., Hsu, Y-P.P.

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 1.45 MB

english, 1990

131

Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.

Holmgren, G, Ozelius, L, Forsgren, L, Almay, B G, Holmberg, M, Kramer, P, Fahn, S, Breakefield, X O

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1995

Language:

english

File:

PDF, 744 KB

english, 1995

132

Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations

Hedrich, K., Meyer, E. -M., Schule, B., Kock, N., de Carvalho Aguiar, P., Wiegers, K., Koelman, J. H., Garrels, J., Durr, R., Liu, L., Schwinger, E., Ozelius, L. J., Landwehrmeyer, B., Stoessl, A. J.,

Journal:

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

133

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

Ortiz-Virumbrales, Maitane, Ruiz, Marta, Hone, Eugene, Dolios, Georgia, Wang, Rong, Morant, Andrika, Kottwitz, Jessica, Ozelius, Laurie J, Gandy, Sam, Ehrlich, Michelle E

Journal:

Acta Neuropathologica Communications

Year:

2014

Language:

english

File:

PDF, 2.17 MB

english, 2014

134

The DYT1 phenotype and guidelines for diagnostic testing

Bressman, S. B., Sabatti, C., Raymond, D., de Leon, D., Klein, C., Kramer, P. L., Brin, M. F., Fahn, S., Breakefield, X., Ozelius, L. J., Risch, N. J.

Journal:

Year:

2000

Language:

english

File:

PDF, 256 KB

english, 2000

135

The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia

Friedman, J. R. L., Klein, C., Leung, J., Woodward, H., Ozelius, L. J., Breakefield, X. O., Charness, M. E.

Journal:

Year:

2000

Language:

english

File:

PDF, 661 KB

english, 2000

136

Differential Binding of Cross-Reactive Anti-DNA Antibodies to Mesangial Cells: The Role of -Actinin

Zhao, Z., Deocharan, B., Scherer, P. E., Ozelius, L. J., Putterman, C.

Journal:

The Journal of Immunology

Year:

2006

Language:

english

File:

PDF, 3.89 MB

english, 2006

137

DNA linkage analysis in Von Recklinghausen neurofibromatosis.

Seizinger, B R, Rouleau, G, Lane, A H, Ozelius, L J, Faryniarz, A G, Iannazzi, J, Hobbs, W, Roy, J C, Falcone, B, Huson, S

Journal:

Journal of Medical Genetics

Year:

1987

Language:

english

File:

PDF, 288 KB

english, 1987

138

De Novo Mutations (GAG Deletion) in the DYT1 Gene in Two Non-Jewish Patients with Early-onset Dystonia

Klein, C., Brin, M. F., de Leon, D., Limborska, S. A., Ivanova-Smolenskaya, I. A., Bressman, S. B., Friedman, A., Markova, E. D., Risch, N. J., Breakefield, X. O., Ozelius, L. J.

Journal:

Human Molecular Genetics

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

139

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

Gan-Or, Z., Ozelius, L. J., Bar-Shira, A., Saunders-Pullman, R., Mirelman, A., Kornreich, R., Gana-Weisz, M., Raymond, D., Rozenkrantz, L., Deik, A., Gurevich, T., Gross, S. J., Schreiber-Agus, N., Gi

Journal:

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

140

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

Marder, K., Wang, Y., Alcalay, R. N., Mejia-Santana, H., Tang, M.-X., Lee, A., Raymond, D., Mirelman, A., Saunders-Pullman, R., Clark, L., Ozelius, L., Orr-Urtreger, A., Giladi, N., Bressman, S.

Journal:

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

141

THAP1: Role in focal dystonia?

Ozelius, L. J., Bressman, S. B.

Journal:

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

142

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

Kenny, Eimear E., Pe'er, Itsik, Karban, Amir, Ozelius, Laurie, Mitchell, Adele A., Ng, Sok Meng, Erazo, Monica, Ostrer, Harry, Abraham, Clara, Abreu, Maria T., Atzmon, Gil, Barzilai, Nir, Brant, Steve

Journal:

Year:

2012

Language:

english

File:

PDF, 644 KB

english, 2012

143

Further characterization of Pstl RFLPs at the acid alpha glucosidase (GAA) locus

Tzall, S., Martiniuk, F., Ozelius, L., Gusella, J., Hirschhorn, R.

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 280 KB

english, 1991

144

RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION

Anselm, I. A., Sweadner, K. J., Gollamudi, S., Ozelius, L. J., Darras, B. T.

Journal:

Year:

2009

Language:

english

File:

PDF, 412 KB

english, 2009

145

Metabolic changes in DYT11 myoclonus-dystonia

Carbon, M., Raymond, D., Ozelius, L., Saunders-Pullman, R., Frucht, S., Dhawan, V., Bressman, S., Eidelberg, D.

Journal:

Year:

2013

Language:

english

File:

PDF, 445 KB

english, 2013

146

The parkin gene is not involved in late-onset Parkinson's disease

Kann, M., Hedrich, K., Vieregge, P., Jacobs, H., Muller, B., Kock, N., Schwinger, E., Klein, C., Marder, K., Harris, J., Meija-Santana, H., Bressman, S., Ozelius, L.J., Lang, A.E., Pramstaller, P.P.,

Journal:

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

147

A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113

Ozelius, L., Mandel, J.L., Gusella, J.F., Breakefield, X.O.

Journal:

Nucleic Acids Research

Year:

1986

Language:

english

File:

PDF, 44 KB

english, 1986

148

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

Heiman, G. A., Ottman, R., Saunders-Pullman, R. J., Ozelius, L. J., Risch, N. J., Bressman, S. B.

Journal:

Year:

2004

Language:

english

File:

PDF, 198 KB

english, 2004

149

Clinical findings of a myoclonus-dystonia family with two distinct mutations

Doheny, D., Danisi, F., Smith, C., Morrison, C., Velickovic, M., de Leon, D., Bressman, S. B., Leung, J., Ozelius, L., Klein, C., Breakefield, X. O., Brin, M. F., Silverman, J. M.

Journal:

Year:

2002

Language:

english

File:

PDF, 116 KB

english, 2002

150

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Klein, C., Hedrich, K., Kabakci, K., Mohrmann, K., Wiegers, K., Landt, O., Hagenah, J., Schwinger, E., Pramstaller, P. P., Ozelius, L. J., Gucuyener, K., Aysun, S., Demir, E.

Journal:

Year:

2002

Language:

english

File:

PDF, 310 KB

english, 2002

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