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Items: 3

1.

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.

Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.

Brain. 2018 Jun 28. doi: 10.1093/brain/awy167. [Epub ahead of print]

2.

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B.

Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.

3.

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.

Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.

Am J Hum Genet. 2016 Sep 1;99(3):647-665. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4.

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