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The British Journal of Ophthalmology|February 14, 2014
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulationArif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, et al.
Neurogenetics|August 25, 2007
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutationRoberto Del Bo, Alessio Di Fonzo, Serena Ghezzi, et al.
Neurology. Genetics|January 18, 2024
<i>IRF2BPL</i> Causes Mild Intellectual Disability Followed by Late-Onset AtaxiaSolveig Heide, Claire-Sophie Davoine, Paulina Cunha, et al.
Annals of Clinical and Translational Neurology|March 10, 2015
Survival and severity in dominant cerebellar ataxiasMarie-Lorraine Monin, Sophie Tezenas du Montcel, Cecilia Marelli, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegiasSara Morais, Laure Raymond, Mathilde Mairey, et al.
Brain : a Journal of Neurology|June 14, 2003
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genesGiovanni Stevanin, Hiroto Fujigasaki, Anne-Sophie Lebre, et al.
Neurogenetics|June 29, 2007
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSPChristel Depienne, Estelle Fedirko, Jean-Marc Faucheux, et al.
Archives of Neurology|March 12, 2008
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneityAmir Boukhris, Giovanni Stevanin, Imed Feki, et al.
Ophthalmology|November 2, 2010
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 geneBernard Puech, Arnaud Lacour, Giovanni Stevanin, et al.
Annals of Neurology|March 24, 2005
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)Naima Bouslam, Ali Benomar, Hamid Azzedine, et al.
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