Goldstein O - Search Results

1

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, Drory VE, Orr-Urtreger A. Goldstein O, et al. Neurology. 2016 Feb 2;86(5):446-53. doi: 10.1212/WNL.0000000000002334. Epub 2016 Jan 6. Neurology. 2016. PMID: 26740678 Free PMC article.

2

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.

Goldstein O, Gana-Weisz M, Nefussy B, Vainer B, Nayshool O, Bar-Shira A, Traynor BJ, Drory VE, Orr-Urtreger A. Goldstein O, et al. Neurobiol Aging. 2018 Apr;64:160.e1-160.e7. doi: 10.1016/j.neurobiolaging.2017.12.015. Epub 2017 Dec 27. Neurobiol Aging. 2018. PMID: 29352617 Free PMC article.

3

Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics.

Goldstein O, Kedmi M, Gana-Weisz M, Twito S, Nefussy B, Vainer B, Fainmesser Y, Abraham A, Nayshool O, Orr-Urtreger A, Drory VE. Goldstein O, et al. J Neurol Sci. 2019 Jul 15;402:62-68. doi: 10.1016/j.jns.2019.05.006. Epub 2019 May 8. J Neurol Sci. 2019. PMID: 31108397

4

Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?

Goldstein O, Gana-Weisz M, Cohen-Avinoam D, Shiner T, Thaler A, Cedarbaum JM, John S, Lalioti M, Gurevich T, Bar-Shira A, Mirelman A, Giladi N, Orr-Urtreger A. Goldstein O, et al. Mol Genet Metab. 2019 Dec;128(4):470-475. doi: 10.1016/j.ymgme.2019.10.001. Epub 2019 Oct 13. Mol Genet Metab. 2019. PMID: 31662221

5

A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.

Goldstein O, Kedmi M, Gana-Weisz M, Nefussy B, Vainer B, Fainmesser Y, Drory VE, Orr-Urtreger A. Goldstein O, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):280-285. doi: 10.1080/21678421.2020.1747496. Epub 2020 Apr 7. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32253937

6

Biochemical markers for severity and risk in GBA and LRRK2 Parkinson's disease.

Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Shenhar-Tsarfaty S, Mirelman A. Thaler A, et al. Among authors: goldstein o. J Neurol. 2021 Apr;268(4):1517-1525. doi: 10.1007/s00415-020-10325-4. Epub 2021 Jan 3. J Neurol. 2021. PMID: 33388928

7

The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.

Goldstein O, Gana-Weisz M, Attar R, Bar-Shira A, Lederkremer M, Shiner T, Thaler A, Mirelman A, Giladi N, Orr-Urtreger A. Goldstein O, et al. Mol Genet Metab. 2021 May;133(1):109-112. doi: 10.1016/j.ymgme.2021.03.012. Epub 2021 Mar 18. Mol Genet Metab. 2021. PMID: 33762134

8

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.

Goldstein O, Inbar T, Kedmi M, Gana-Weisz M, Abramovich B, Orr-Urtreger A, Drory VE. Goldstein O, et al. Neurol Genet. 2022 Jul 6;8(4):e200009. doi: 10.1212/NXG.0000000000200009. eCollection 2022 Aug. Neurol Genet. 2022. PMID: 35812163 Free PMC article.

9

R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies.

Goldstein O, Gana-Weisz M, Shiner T, Attar R, Mordechai Y, Waldman YY, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Orr-Urtreger A. Goldstein O, et al. Alzheimers Dement (Amst). 2021 Jun 4;13(1):e12143. doi: 10.1002/dad2.12143. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 34124335 Free PMC article.

10

C9orf72-G₄C₂ Intermediate Repeats and Parkinson's Disease; A Data-Driven Hypothesis.

Kobo H, Goldstein O, Gana-Weisz M, Bar-Shira A, Gurevich T, Thaler A, Mirelman A, Giladi N, Orr-Urtreger A. Kobo H, et al. Among authors: goldstein o. Genes (Basel). 2021 Aug 5;12(8):1210. doi: 10.3390/genes12081210. Genes (Basel). 2021. PMID: 34440384 Free PMC article.

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