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A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

Miguel Mitne‐Neto, Fernando Kok, Christian Beetz, André Luiz Santos Pessoa, Clarissa Bueno, Zódja Graciani, Marcília Lima Martyn, Carlos Bandeira de Mello Monteiro, Guilherme Mitne, Paulo Hubert,

European Journal of Human Genetics · 2007 · 32 citations · 6 references

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6

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Núria Fonknechten · Human Molecular Genetics · 2000 · 288 citations

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Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

Katia J. Evans, Edgar R. Gomes, Steven M. Reisenweber et al. · The Journal of Cell Biology · 2005 · 222 citations · Full text

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The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

Mayana Zatz, Suely Kazue Nagahashi Marie, Antonia Cerqueira et al. · American Journal of Medical Genetics · 1998 · 156 citations

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High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegia

Christian Beetz, Anders O.H. Nygren, Jörg Schickel et al. · Neurology · 2006 · 140 citations

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Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Ingrid K. Svenson, Mark Kloos, P. C. Gaskell et al. · Neurogenetics · 2004 · 89 citations

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