José Carlos Fernández Fernández

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Sylvain Hanein, Elodie Martin, Amir Boukhris et al. · The American Journal of Human Genetics · 2008 · 211 citations · Full text

Including Kjellin Syndrome, Genetics, Spg15 Gene +4

High Dose Frusemide in Established Acute Renal Failure

F Cantarovich, Claudia Inés Galli, Luana Benedetti et al. · BMJ · 1973 · 112 citations · Full text

<i>SPG15</i> is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Cyril Goizet, A. Boukhris, David Maltête et al. · Neurology · 2009 · 97 citations

Cytokine gene expression and release from epithelial cells. A comparison study between healthy nasal mucosa and nasal polyps

J. MULLOU, Antoni Xaubet, Antoni Gayà et al. · Clinical & Experimental Allergy · 1995 · 96 citations

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

Reena Murmu Nielsen, Elodie Martin, Agnès Rastetter et al. · Molecular and Cellular Neuroscience · 2011 · 83 citations

Biology, Cellular Distribution, Medicine +6