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L J Ozelius

Explore the profile of L J Ozelius including associated specialties, affiliations and a list of published articles. Areas
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Articles 74
Citations 2112
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Recent Articles
1.
Battistella G, Fuertinger S, Fleysher L, Ozelius L, Simonyan K
Eur J Neurol . 2016 Jun; 23(10):1517-27. PMID: 27346568
Background And Purpose: Spasmodic dysphonia (SD), or laryngeal dystonia, is a task-specific isolated focal dystonia of unknown causes and pathophysiology. Although functional and structural abnormalities have been described in this...
2.
Barrett M, Shanker V, Severt W, Raymond D, Gross S, Schreiber-Agus N, et al.
JIMD Rep . 2014 May; 16:31-8. PMID: 24850235
Mutations in glucosidase, beta, acid (GBA) are associated with cognitive impairment in Parkinson disease (PD) as well as dementia with Lewy bodies. For both of these diseases, dementia and hallucinations...
3.
Barrett M, Hagenah J, Dhawan V, Peng S, Stanley K, Raymond D, et al.
Parkinsonism Relat Disord . 2012 Oct; 19(2):186-91. PMID: 23062841
Background: Heterozygous glucocerebrosidase (GBA) mutations are the leading genetic risk factor for Parkinson disease, yet imaging correlates, particularly transcranial sonography, have not been extensively described. Methods: To determine whether GBA...
4.
Saunders-Pullman R, Raymond D, Stoessl A, Hobson D, Nakamura K, Nakamura T, et al.
Neurology . 2012 Feb; 78(9):649-57. PMID: 22345219
Objective: To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research. Methods: Movement disorder specialists examined 20 Canadian Mennonite...
5.
Saunders-Pullman R, Stanley K, Wang C, San Luciano M, Shanker V, Hunt A, et al.
Neurology . 2011 Jul; 77(4):319-24. PMID: 21753159
Background: Olfactory dysfunction is an established nonmotor feature of idiopathic Parkinson disease (PD), which may precede disease onset. Olfaction is likely disturbed in patients with PD with leucine-rich repeat kinase...
6.
Saunders-Pullman R, Stanley K, San Luciano M, Barrett M, Shanker V, Raymond D, et al.
Neurosci Lett . 2011 Apr; 496(2):125-8. PMID: 21511009
G2019S mutations in the LRRK2 gene are responsible for up to 18% of PD in individuals of Jewish descent. While a male preponderance of Parkinson disease (PD) has been consistently...
7.
Walter M, Bonin M, Pullman R, Valente E, Loi M, Gambarin M, et al.
Neurobiol Dis . 2010 Jan; 38(2):192-200. PMID: 20053375
DYT1 dystonia is an autosomal-dominantly inherited movement disorder, which is usually caused by a GAG deletion in the TOR1A gene. Due to the reduced penetrance of approximately 30-40%, the determination...
8.
Anselm I, Sweadner K, Gollamudi S, Ozelius L, Darras B
Neurology . 2009 Aug; 73(5):400-1. PMID: 19652145
No abstract available.
9.
Grunewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller J, Allert N, et al.
Hum Mutat . 2008 Jan; 29(2):331-2. PMID: 18205193
Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder caused by mutations in SGCE. We investigated the frequency and type of SGCE mutations with emphasis on gene dosage alterations and explored the...
10.
Hess C, Raymond D, de Carvalho Aguiar P, Frucht S, Shriberg J, Heiman G, et al.
Neurology . 2007 Feb; 68(7):522-4. PMID: 17296918
Although myoclonus and dystonia are the hallmarks of myoclonus-dystonia (M-D), psychiatric features, particularly obsessive-compulsive disorder and alcohol dependence, have been reported in three families linked to chromosome 7q21. As the...