Jérémy Truchetto

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 246 citations

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

Mikołaj Słabicki, Mirko Theis, Dragomir B. Krastev et al. · PLoS Biology · 2010 · 194 citations · Full text

Genetics, Genomic Mechanism, Molecular Biology +19

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Cyril Goizet, A. Boukhris, A. Dürr et al. · Brain · 2009 · 109 citations

<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

Screening of ARHSP-TCC patients expands the spectrum of<i>SPG11</i>mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali et al. · Human Mutation · 2008 · 59 citations

Immunodeficiencies, Genetics, Pathology +17