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R Saunders-Pullman

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Articles 22
Citations 457
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Recent Articles
1.
Deik A, Johannes B, Rucker J, Sanchez E, Brodie S, Deegan E, et al.
J Neurol . 2014 Oct; 261(12):2411-23. PMID: 25267340
PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized...
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.
San Luciano M, Ozelius L, Lipton R, Raymond D, Bressman S, Saunders-Pullman R
Neurosci Lett . 2011 Dec; 506(2):312-6. PMID: 22155094
The -174G>C (rs1800795) single nucleotide polymorphism (SNP) in the promoter of the interleukin-6 (IL6) gene and the 1730G>A (rs4986938) SNP in the estrogen receptor beta (ESR2) may influence the risk...
6.
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...
7.
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...
8.
Schmidt A, Jabusch H, Altenmuller E, Hagenah J, Bruggemann N, Lohmann K, et al.
Neurology . 2009 Apr; 72(14):1248-54. PMID: 19349605
Objective: To test the hypothesis that there is familial aggregation of dystonia and other movement disorders in relatives of patients with musician's dystonia (MD) and to identify possible environmental triggers....
9.
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...
10.
Schmidt A, Jabusch H, Altenmuller E, Hagenah J, Bruggemann N, Hedrich K, et al.
Neurology . 2006 Aug; 67(4):691-3. PMID: 16924027
Musician's dystonia is generally considered a sporadic disorder. We present three families with the index patient affected by musician's dystonia, but other forms of upper limb focal task-specific dystonia (FTSD),...