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, +35

Brain

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, +16

The American Journal of Human Genetics

Including Kjellin SyndromeGeneticsSpg15 GeneEncoding SpastizinPathology +2

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schüle, José Leal Loureiro, +30

The American Journal of Human Genetics

MedicinePhysiologyGanglioside Biosynthesis ResponsibleNeurologyCentral Nervous System +5

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets, +19

The American Journal of Human Genetics

Motor Neuron DefectsNeurological DisorderDegenerative DiseaseNeurologyNeuroscience +6

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

Cyril Goizet, Amir Boukhris, Emeline Mundwiller, +9

Human Mutation

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Cyril Goizet, Christel Depienne, Giovanni Bénard, +26

Human Mutation

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationPure Dominant Hsp +14

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, +51

Human Mutation

ImmunodeficienciesGeneticsPathologyDisease Gene IdentificationGenomics +15

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

Amir Boukhris, Giovanni Stévanin, Imed Feki, +8

Archives of Neurology

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

Amir Boukhris, Imed Feki, Nizar Elleuch, +9

Neurogenetics

Mendelian DisorderMental ImpairmentGenetic DisorderGeneticsNew Locus +9

Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

Amir Boukhris, Imed Feki, Elodie Denis, +4

Movement Disorders