Margolis R - Search Results

1

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Krause A, et al. Among authors: margolis r. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26079385 Free PMC article.

2

Diagnosis of Huntington disease.

Margolis RL, Ross CA. Margolis RL, et al. Clin Chem. 2003 Oct;49(10):1726-32. doi: 10.1373/49.10.1726. Clin Chem. 2003. PMID: 14500613 Review.

3

Huntington's disease like-2: review and update.

Margolis RL, Rudnicki DD, Holmes SE. Margolis RL, et al. Acta Neurol Taiwan. 2005 Mar;14(1):1-8. Acta Neurol Taiwan. 2005. PMID: 15835282 Review.

4

Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.

Seixas AI, Holmes SE, Takeshima H, Pavlovich A, Sachs N, Pruitt JL, Silveira I, Ross CA, Margolis RL, Rudnicki DD. Seixas AI, et al. Ann Neurol. 2012 Feb;71(2):245-57. doi: 10.1002/ana.22598. Ann Neurol. 2012. PMID: 22367996

5

Pathogenic insights from Huntington's disease-like 2 and other Huntington's disease genocopies.

Margolis RL, Rudnicki DD. Margolis RL, et al. Curr Opin Neurol. 2016 Dec;29(6):743-748. doi: 10.1097/WCO.0000000000000386. Curr Opin Neurol. 2016. PMID: 27749395 Review.

6

A Systematic Review of the Huntington Disease-Like 2 Phenotype.

Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A. Anderson DG, et al. J Huntingtons Dis. 2017;6(1):37-46. doi: 10.3233/JHD-160232. J Huntingtons Dis. 2017. PMID: 28339400 Review.

7

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.

Anderson DG, Carmona S, Naidoo K, Coetzer TL, Carr J, Rudnicki DD, Walker RH, Margolis RL, Krause A. Anderson DG, et al. Tremor Other Hyperkinet Mov (N Y). 2017 Dec 5;7:512. doi: 10.7916/D81J9PDX. eCollection 2017. Tremor Other Hyperkinet Mov (N Y). 2017. PMID: 29226019 Free PMC article.

8

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. Holmes SE, et al. Among authors: margolis rl. Nat Genet. 2001 Dec;29(4):377-8. doi: 10.1038/ng760. Nat Genet. 2001. PMID: 11694876

9

Huntington's Disease-like 2 (HDL2) in North America and Japan.

Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P. Margolis RL, et al. Ann Neurol. 2004 Nov;56(5):670-4. doi: 10.1002/ana.20248. Ann Neurol. 2004. PMID: 15468075

10

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL. Rudnicki DD, et al. Ann Neurol. 2007 Mar;61(3):272-82. doi: 10.1002/ana.21081. Ann Neurol. 2007. PMID: 17387722

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