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Stevanin, Giovanni ; Azzedine, Hamid ; Denora, Paola ; Boukhris, Amir ; Tazir, Meriem ; Lossos, Alexander ; Rosa, Alberto Luis ; Lerer, Israela ; Hamri, Abdelmadjid ; Alegria, Paulo ; Loureiro, José ; Tada, Masayoshi ; Hannequin, Didier ; Anheim, Mathieu ; Goizet, Cyril ; Gonzalez-Martinez, Victoria ; Le Ber, Isabelle ; Forlani, Sylvie ; Iwabuchi, Kiyoshi ; Meiner, Vardiela ; Uyanik, Goekhan ; Erichsen, Anne Kjersti ; Feki, Imed ; Pasquier, Florence ; Belarbi, Soreya ; Cruz, Vitor T. ; Depienne, Christel ; Truchetto, Jeremy ; Garrigues, Guillaume ; Tallaksen, Chantal ; Tranchant, Christine ; Nishizawa, Masatoyo ; Vale, José ; Coutinho, Paula ; Santorelli, Filippo M. ; Mhiri, Chokri ; Brice, Alexis ; Durr, Alexandra

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

Stevanin, Giovanni , Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo , Loureiro, José , Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence , Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula , Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis and Durr, Alexandra (2007) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131 (3), pp. 772-784.

Date of publication of this fulltext: 19 Dec 2024 13:23
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Item typeArticle
Journal or Publication TitleBrain
Publisher:OXFORD UNIV PRESS
Place of Publication:OXFORD
Volume:131
Number of Issue or Book Chapter:3
Page Range:pp. 772-784
Date2007
InstitutionsMedicine > Lehrstuhl für Neurologie
Identification Number
ValueType
10.1093/brain/awm293DOI
KeywordsGENETIC-HETEROGENEITY; HEREDITARY ATAXIAS; IMPAIRMENT; SPATACSIN; PROTEIN; LOCUS; FORM; spastic paraplegias; SPGII; thin corpus callosum; mental retardation; lower motor neuron degeneration
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID68305

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