A new phenotype associated with homozygousGRNmutations: complicated spastic paraplegia
Author:
Affiliation:
1. Department of Neurology; School of Medical Sciences; University of Campinas - UNICAMP; Campinas SP Brazil
2. Department of Medical Genetics; School of Medical Sciences; University of Campinas - UNICAMP; Campinas SP Brazil
Funder
Fundação de Amparo à Pesquisa do Estado de São Paulo
Conselho Nacional de Desenvolvimento Científico e Tecnológico
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13194/fullpdf
Reference5 articles.
1. Genetics of dementia;Loy;Lancet,2014
2. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage;Smith;Am J Hum Genet,2012
3. Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation;Canafoglia;Epilepsia,2014
4. Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation;Almeida;Neurobiol Aging,2016
5. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide;Benussi;Neurobiol Dis,2009
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