Saporta MA - Search Results

1

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families.

Saporta MA, Zaros C, Cruz MW, André C, Misrahi M, Bonaïti-Pellié C, Planté-Bordeneuve V. Saporta MA, et al. Eur J Neurol. 2009 Mar;16(3):337-41. doi: 10.1111/j.1468-1331.2008.02429.x. Eur J Neurol. 2009. PMID: 19364362

2

Acquired hepatocerebral degeneration without overt liver disease.

Saporta MA, André C, Bahia PR, Chimelli L, Pais PH, Silva TS, Correia AH, Nobre AB. Saporta MA, et al. Neurology. 2004 Nov 23;63(10):1981-2. doi: 10.1212/01.wnl.0000144193.62505.e6. Neurology. 2004. PMID: 15557536 No abstract available.

3

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME. Saporta MA, et al. Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10. Brain. 2012. PMID: 22689911 Free PMC article.

4

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Fridman V, et al. Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11. Neurology. 2020. PMID: 32047073 Free PMC article.

5

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.

Juneja M, Burns J, Saporta MA, Timmerman V. Juneja M, et al. Among authors: saporta ma. J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):58-67. doi: 10.1136/jnnp-2018-318834. Epub 2018 Jul 17. J Neurol Neurosurg Psychiatry. 2019. PMID: 30018047 Free PMC article. Review.

6

Charcot-Marie-Tooth disease and other inherited neuropathies.

Saporta MA. Saporta MA. Continuum (Minneap Minn). 2014 Oct;20(5 Peripheral Nervous System Disorders):1208-25. doi: 10.1212/01.CON.0000455885.37169.4c. Continuum (Minneap Minn). 2014. PMID: 25299278 Review.

7

Analysis of Myelinating Schwann Cells in Human Skin Biopsies.

Saporta MA, de Moraes Maciel R. Saporta MA, et al. Methods Mol Biol. 2018;1739:359-369. doi: 10.1007/978-1-4939-7649-2_24. Methods Mol Biol. 2018. PMID: 29546720

8

Cellular reprogramming and inherited peripheral neuropathies: perspectives and challenges.

Saporta MA. Saporta MA. Neural Regen Res. 2015 Jun;10(6):894-6. doi: 10.4103/1673-5374.158345. Neural Regen Res. 2015. PMID: 26199602 Free PMC article. No abstract available.

9

Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant.

Margolesky J, Saporta M. Margolesky J, et al. Neurol Genet. 2018 Mar 22;4(2):e229. doi: 10.1212/NXG.0000000000000229. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29577079 Free PMC article. No abstract available.

10

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.

Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. Al-Tahan S, et al. Neurol Genet. 2019 Jul 10;5(4):e349. doi: 10.1212/NXG.0000000000000349. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31403083 Free PMC article.

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