Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

Neurogenetics ◽  
2014 ◽  
Vol 16 (2) ◽  
pp. 97-105 ◽  
Author(s):  
Eva López ◽  
Carlos Casasnovas ◽  
Javier Giménez ◽  
Antoni Matilla-Dueñas ◽  
Ivelisse Sánchez ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Rearrangement ◽  
Spastic Paraplegia

scholarly journals Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

Neurogenetics ◽  
2021 ◽  
Author(s):  
Eva López ◽  
Carlos Casasnovas ◽  
Javier Giménez ◽  
Antoni Matilla-Dueñas ◽  
Ivelisse Sánchez ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Rearrangement ◽  
Spastic Paraplegia

scholarly journals The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Amir Jahic ◽  
Mukhran Khundadze ◽  
Nadine Jaenisch ◽  
Rebecca Schüle ◽  
Sven Klimpe ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia

2019 ◽  
Vol 95 (5) ◽  
pp. 637-639
Author(s):  
Yang‐Tian Yan ◽  
Qiao Wei ◽  
Yicen Zheng ◽  
Wen‐Jiao Luo ◽  
Hai‐Lin Dong ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Genetic Characterization ◽  
Chinese Patients ◽  
Spastic Paraplegia

scholarly journals Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Brain ◽  
2016 ◽  
Vol 139 (7) ◽  
pp. 1904-1918 ◽  
Author(s):  
Eleanna Kara ◽  
Arianna Tucci ◽  
Claudia Manzoni ◽  
David S. Lynch ◽  
Marilena Elpidorou ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Phenotypic Characterization ◽  
Spastic Paraplegia

Further Clinical and Genetic Characterization of SPG11: Hereditary Spastic Paraplegia with Thin Corpus Callosum

2006 ◽  
Vol 37 (2) ◽  
pp. 59-66 ◽  
Author(s):  
A. Ölmez ◽  
G. Uyanik ◽  
R. Özgül ◽  
C. Gross ◽  
S. Cirak ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Genetic Characterization ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum
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