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2011 7
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32 results

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Page 1
The role of reticulons in neurodegenerative diseases.
Chiurchiù V, Maccarrone M, Orlacchio A. Chiurchiù V, et al. Neuromolecular Med. 2014 Mar;16(1):3-15. doi: 10.1007/s12017-013-8271-9. Epub 2013 Nov 12. Neuromolecular Med. 2014. PMID: 24218324 Free PMC article. Review.
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis.
Tessa A, Fiorillo C, De Grandis D, Astrea G, Perazza S, Filla A, Santorelli FM. Tessa A, et al. Can J Neurol Sci. 2014 Sep;41(5):666-8. doi: 10.1017/cjn.2014.28. Can J Neurol Sci. 2014. PMID: 25373823 No abstract available.
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP. Di Fonzo A, et al. Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014 May 7. Neurology. 2014. PMID: 24808015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Tesson C, et al. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176821 Free PMC article.
32 results