Search Results - "Ozelius, L. J"

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia by Battistella, G., Fuertinger, S., Fleysher, L., Ozelius, L. J., Simonyan, K.

“…Background and purpose Spasmodic dysphonia (SD), or laryngeal dystonia, is a task‐specific isolated focal dystonia of unknown causes and pathophysiology…”
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Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites by SAUNDERS-PULLMAN, R, RAYMOND, D, STANLEY, K, LUCIANO, M. San, HAGENAH, J, GATTI, R, OZELIUS, L. J, BRESSMAN, S. B, STOESSL, A. J, HOBSON, D, NAKAMURA, T, PULLMAN, S, LEFTON, D, OKUN, M. S, UITTI, R, SACHDEV, R

“…To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics…”
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RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION by 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 by SAUNDERS-PULLMAN, R, STANLEY, K, BRESSMAN, S. B, WANG, C, SAN LUCIANO, M, SHANKER, V, HUNT, A, SEVERT, L, RAYMOND, D, OZELIUS, L. J, LIPTON, R. B

“…Olfactory dysfunction is an established nonmotor feature of idiopathic Parkinson disease (PD), which may precede disease onset. Olfaction is likely disturbed…”
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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease by HEDRICH, K, DJARMATI, A, BONIFATI, V, SCHWINGER, E, LANG, A. E, NOTH, J, BRESSMAN, S. B, PRAMSTALLER, P. P, RIESS, O, KLEIN, C, SCHÄFER, N, HERING, R, WELLENBROCK, C, WEISS, P. H, HILKER, R, VIEREGGE, P, OZELIUS, L. J, HEUTINK, P

“…Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only…”
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The DYT1 phenotype and guidelines for diagnostic testing by BRESSMAN, S. B, SABATTI, C, RISCH, N. J, RAYMOND, D, DE LEON, D, KLEIN, C, KRAMER, P. L, BRIN, M. F, FAHN, S, BREAKEFIELD, X, OZELIUS, L. J

“…To develop diagnostic testing guidelines for the DYT1 GAG deletion in the Ashkenazi Jewish (AJ) and non-Jewish (NJ) primary torsion dystonia (PTD) populations…”
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Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers by HESS, C. W, RAYMOND, D, SAUNDERS-PULLMAN, R, DE CARVALHO AGUIAR, P, FRUCHT, S, SHRIBERG, J, HEIMAN, G. A, KURLAN, R, KLEIN, C, BRESSMAN, S. B, OZELIUS, L. J

“…Although myoclonus and dystonia are the hallmarks of myoclonus-dystonia (M-D), psychiatric features, particularly obsessive-compulsive disorder and alcohol…”
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Increased risk for recurrent major depression in DYT1 dystonia mutation carriers by HEIMAN, G. A, OTTMAN, R, SAUNDERS-PULLMAN, R. J, OZELIUS, L. J, RISCH, N. J, BRESSMAN, S. B

“…Prior studies suggest that dystonia is comorbid with affective disorders. This comorbidity could be a reaction to a chronic debilitating disorder or expression…”
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High mutation rate in dopa-responsive dystonia : Detection with comprehensive GCHI screening by HAGENAH, J, SAUNDERS-PULLMAN, R, NYGAARD, T, OZELIUS, L. J, BRESSMAN, S. B, KLEIN, C, HEDRICH, K, KABAKCI, K, HABERMANN, K, WIEGERS, K, MOHRMANN, K, LOHNAU, T, RAYMOND, D, VIEREGGE, P

“…Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by…”
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Myoclonus dystonia: Possible association with obsessive-compulsive disorder and alcohol dependence by SAUNDERS-PULLMAN, R, SHRIBERG, J, RISCH, N. J, BRESSMAN, S. B, HEIMAN, G, RAYMOND, D, WENDT, K, KRAMER, P, SCHILLING, K, KURLAN, R, KLEIN, C, OZELIUS, L. J

“…Inherited myoclonus-dystonia (M-D) is a disorder that is characterized primarily by myoclonic jerks and is often accompanied by dystonia. In addition to motor…”
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Mutations in DYT1: Extension of the phenotypic and mutational spectrum by KABAKCI, K, HEDRICH, K, SVETEL, M, FRIEDMAN, J, KOSTIC, V, BRESSMAN, S. B, BREAKEFIELD, X. O, OZELIUS, L. J, PRAMSTALLER, P. P, KLEIN, C, LEUNG, J. C, MITTERER, M, VIEREGGE, P, LENCER, R, HAGENAH, J, GARRELS, J, WITT, K, KLOSTERMANN, F

“…Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three-base pair (bp) (GAG) deletion in the DYT1 gene. Exon rearrangements are a…”
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A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription by RUTTER, J. L, MITCHELL, T. I, BUTTICE, G, MEYERS, J, GUSELLA, J. F, OZELIUS, L. J, BRINCKERHOFF, C. E

“…Matrix metalloproteinases (MMPs) facilitate cellular invasion by degrading the extracellular matrix, and their regulation is partially dependent on…”
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The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia by 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.

“…Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a…”
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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia by 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

“…The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative…”
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Genetic heterogeneity in ten families with myoclonus-dystonia by 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

“…Background: Myoclonus-dystonia (M-D) is a movement disorder with autosomal dominant inheritance and reduced penetrance but may also occur sporadically…”
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Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease by 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

“…Abstract Background Heterozygous glucocerebrosidase ( GBA ) mutations are the leading genetic risk factor for Parkinson disease, yet imaging correlates,…”
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Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype by 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.

“…A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European…”
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Phenotypic features of myoclonus-dystonia in three kindreds by DOHENY, D. O, BRIN, M. F, 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, MORRISON, C. E, SILVERMAN, J. M, SMITH, C. J, WALKER, R. H, ABBASI, S, MÜLLER, B, GARRELS, J, LIU, L, DE CARVALHO AGUIAR, P

“…Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with…”
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Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family by 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

“…Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden onset of dystonic spasms and…”
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Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations by HEDRICH, K, MEYER, E.-M, SCHWINGER, E, OZELIUS, L. J, LANDWEHRMEYER, B, STOESSL, A. J, TIJSSEN, M. A. J, KLEIN, C, SCHÜLE, B, KOCK, N, DE CARVALHO AGUIAR, P, WIEGERS, K, KOELMAN, J. H, GARRELS, J, DÜRR, R, LIU, L

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