Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
Saunders-Pullman, R, Raymond, D, Stoessl, A J, Hobson, D, Nakamura, K, Nakamura, T, Pullman, S, Lefton, D, Okun, M S, Uitti, R, Sachdev, R, Stanley, K, San Luciano, M, Hagenah, J, Gatti, R, Ozelius, L J, Bressman, S B
Published in Neurology (28.02.2012)
Published in Neurology (28.02.2012)
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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
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Olfactory dysfunction in LRRK2 G2019S mutation carriers
Saunders-Pullman, R, Stanley, K, Wang, C, San Luciano, M, Shanker, V, Hunt, A, Severt, L, Raymond, D, Ozelius, L J, Lipton, R B, Bressman, S B
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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
Hedrich, K, Djarmati, A, Schäfer, N, Hering, R, Wellenbrock, C, Weiss, P H, Hilker, R, Vieregge, P, Ozelius, L J, Heutink, P, Bonifati, V, Schwinger, E, Lang, A E, Noth, J, Bressman, S B, Pramstaller, P P, Riess, O, Klein, C
Published in Neurology (10.02.2004)
Published in Neurology (10.02.2004)
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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
Published in Neurology (09.05.2000)
Published in Neurology (09.05.2000)
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Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
Hess, C W, Raymond, D, Aguiar, P de Carvalho, Frucht, S, Shriberg, J, Heiman, G A, Kurlan, R, Klein, C, Bressman, S B, Ozelius, L J, Saunders-Pullman, R
Published in Neurology (13.02.2007)
Published in Neurology (13.02.2007)
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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
Published in Neurology (24.08.2004)
Published in Neurology (24.08.2004)
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High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening
Hagenah, J, Saunders-Pullman, R, Hedrich, K, Kabakci, K, Habermann, K, Wiegers, K, Mohrmann, K, Lohnau, T, Raymond, D, Vieregge, P, Nygaard, T, Ozelius, L J, Bressman, S B, Klein, C
Published in Neurology (08.03.2005)
Published in Neurology (08.03.2005)
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Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence
Saunders-Pullman, R, Shriberg, J, Heiman, G, Raymond, D, Wendt, K, Kramer, P, Schilling, K, Kurlan, R, Klein, C, Ozelius, L J, Risch, N J, Bressman, S B
Published in Neurology (22.01.2002)
Published in Neurology (22.01.2002)
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Mutations in DYT1: extension of the phenotypic and mutational spectrum
Kabakci, K, Hedrich, K, Leung, J C, Mitterer, M, Vieregge, P, Lencer, R, Hagenah, J, Garrels, J, Witt, K, Klostermann, F, Svetel, M, Friedman, J, Kostic, V, Bressman, S B, Breakefield, X O, Ozelius, L J, Pramstaller, P P, Klein, C
Published in Neurology (10.02.2004)
Published in Neurology (10.02.2004)
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A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription
RUTTER, J. L, MITCHELL, T. I, BUTTICE, G, MEYERS, J, GUSELLA, J. F, OZELIUS, L. J, BRINCKERHOFF, C. E
Published in Cancer research (Chicago, Ill.) (01.12.1998)
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Published in Cancer research (Chicago, Ill.) (01.12.1998)
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The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia
Ozelius, Laurie J., Page, Curtis E., Klein, Christine, Hewett, Jeffrey W., Mineta, Mari, Leung, Joanne, Shalish, Christo, Bressman, Susan B., de Leon, Deborah, Brin, Mitchell F., Fahn, Stanley, Corey, David P., Breakefield, Xandra O.
Published in Genomics (San Diego, Calif.) (15.12.1999)
Published in Genomics (San Diego, Calif.) (15.12.1999)
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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia
Gerrits, M C F, Foncke, E M J, de Haan, R, Hedrich, K, van de Leemput, Y L C, Baas, F, Ozelius, L J, Speelman, J D, Klein, C, Tijssen, M A J
Published in Neurology (14.03.2006)
Published in Neurology (14.03.2006)
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Genetic heterogeneity in ten families with myoclonus-dystonia
Schüle, B, Kock, N, Svetel, M, Dragasevic, N, Hedrich, K, de Carvalho Aguiar, P, Liu, L, Kabakci, K, Garrels, J, Meyer, E-M, Berisavac, I, Schwinger, E, Kramer, P L, Ozelius, L J, Klein, C, Kostic, V
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2004)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2004)
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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-Pullman, R
Published in Parkinsonism & related disorders (01.02.2013)
Published in Parkinsonism & related disorders (01.02.2013)
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Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
Klein, Christine, Pramstaller, Peter P., Kis, Bernhard, Page, Curtis C., Kann, Martin, Leung, Joanne, Woodward, Heather, Castellan, Claudio C., Scherer, Monika, Vieregge, Peter, Breakefield, Xandra O., Kramer, Patricia L., Ozelius, Laurie J.
Published in Annals of neurology (01.07.2000)
Published in Annals of neurology (01.07.2000)
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Phenotypic features of myoclonus-dystonia in three kindreds
Doheny, D O, Brin, M F, Morrison, C E, Smith, C J, Walker, R H, Abbasi, S, Müller, B, Garrels, J, Liu, L, De Carvalho Aguiar, P, Schilling, K, Kramer, P, De Leon, D, Raymond, D, Saunders-Pullman, R, Klein, C, Bressman, S B, Schmand, B, Tijssen, M A J, Ozelius, L J, Silverman, J M
Published in Neurology (22.10.2002)
Published in Neurology (22.10.2002)
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Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family
Kabakci, K, Isbruch, K, Schilling, K, Hedrich, K, de Carvalho Aguiar, P, Ozelius, L J, Kramer, P L, Schwarz, M H R M, Klein, C
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2005)
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Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations
Hedrich, K, Meyer, E-M, Schüle, B, Kock, N, de Carvalho Aguiar, P, Wiegers, K, Koelman, J H, Garrels, J, Dürr, R, Liu, L, Schwinger, E, Ozelius, L J, Landwehrmeyer, B, Stoessl, A J, Tijssen, M A J, Klein, C
Published in Neurology (13.04.2004)
Published in Neurology (13.04.2004)
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