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Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7.
Hernandez-Castillo CR, Diaz R, Rezende TJR, Adanyeguh I, Harding IH, Mochel F, Fernandez-Ruiz J. Hernandez-Castillo CR, et al. Among authors: adanyeguh i. AJNR Am J Neuroradiol. 2021 Sep;42(9):1735-1739. doi: 10.3174/ajnr.A7202. Epub 2021 Jul 1. AJNR Am J Neuroradiol. 2021. PMID: 34210665 Free PMC article.
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Mochel F, et al. J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3. J Neurol Neurosurg Psychiatry. 2016. PMID: 26536893 Free PMC article. Clinical Trial.
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Ward JM, Stoyas CA, Switonski PM, Ichou F, Fan W, Collins B, Wall CE, Adanyeguh I, Niu C, Sopher BL, Kinoshita C, Morrison RS, Durr A, Muotri AR, Evans RM, Mochel F, La Spada AR. Ward JM, et al. Among authors: adanyeguh i. Cell Rep. 2019 Jan 29;26(5):1189-1202.e6. doi: 10.1016/j.celrep.2019.01.028. Cell Rep. 2019. PMID: 30699348 Free PMC article.
32 results