Lynch DR - Search Results

1

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL. Chen YZ, et al. Among authors: lynch dr. Neurobiol Dis. 2006 Jul;23(1):97-108. doi: 10.1016/j.nbd.2006.02.007. Epub 2006 Apr 27. Neurobiol Dis. 2006. PMID: 16644229

2

Ovarian failure in ataxia with oculomotor apraxia type 2.

Lynch DR, Braastad CD, Nagan N. Lynch DR, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1775-7. doi: 10.1002/ajmg.a.31816. Am J Med Genet A. 2007. PMID: 17593543

3

Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.

Lynch DR, Farmer G. Lynch DR, et al. Neuronal Signal. 2021 May 17;5(2):NS20200093. doi: 10.1042/NS20200093. eCollection 2021 Jun. Neuronal Signal. 2021. PMID: 34046211 Free PMC article. Review.

4

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Among authors: lynch dr. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.

5

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.

Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M. Gerhart BJ, et al. Among authors: lynch dr. Neurol Genet. 2024 Nov 20;10(6):e200210. doi: 10.1212/NXG.0000000000200210. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39574782 Free PMC article.

6

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich's Ataxia.

Mishra RK, Nunes AS, Enriquez A, Profeta VR, Wells M, Lynch DR, Vaziri A. Mishra RK, et al. Among authors: lynch dr. Commun Med (Lond). 2024 Oct 29;4(1):217. doi: 10.1038/s43856-024-00653-1. Commun Med (Lond). 2024. PMID: 39468362 Free PMC article.

7

Calcitriol in Friedreich Ataxia.

McCormack SE, Weber DR, Lynch DR. McCormack SE, et al. Among authors: lynch dr. Mov Disord. 2024 Sep;39(9):1653-1654. doi: 10.1002/mds.29970. Mov Disord. 2024. PMID: 39441134 No abstract available.

8

NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's Ataxia.

Perry CE, Halawani SM, Mukherjee S, Ngaba LV, Lieu M, Lee WD, Davis JG, Adzika GK, Bebenek AN, Bazianos DD, Chen B, Mercado-Ayon E, Flatley LP, Suryawanshi AP, Ho I, Rabinowitz JD, Serai SD, Biko DM, Tamaroff J, DeDio A, Wade K, Lin KY, Livingston DJ, McCormack SE, Lynch DR, Baur JA. Perry CE, et al. Among authors: lynch dr. JCI Insight. 2024 Jul 18;9(16):e177152. doi: 10.1172/jci.insight.177152. JCI Insight. 2024. PMID: 39171530 Free PMC article.

9

Insulin sensitivity and insulin secretion in adults with Friedreich's Ataxia: the role of skeletal muscle.

Tamaroff J, Nguyen S, Wilson NE, Stefanovski D, Xiao R, Scattergood T, Capiola C, Schur GM, Dunn J, Dedio A, Wade K, Shah H, Sharma R, Mootha VK, Kelly A, Lin KY, Lynch DR, Reddy R, Rickels MR, McCormack SE. Tamaroff J, et al. Among authors: lynch dr. J Clin Endocrinol Metab. 2024 Aug 7:dgae545. doi: 10.1210/clinem/dgae545. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39109797

10

Autoimmune 'secondary synaptopathies': do NMDAR antibodies cause a primary extra-synaptopathy?

Zhao M, Lynch DR, Irani SR. Zhao M, et al. Among authors: lynch dr. Brain. 2024 Aug 1;147(8):2601-2603. doi: 10.1093/brain/awae236. Brain. 2024. PMID: 39073761 Free PMC article.

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