scholarly journals Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) gene

2003 ◽  
Vol 21 (2) ◽  
pp. 170-170 ◽  
Author(s):  
C. Proukakis ◽  
M. Auer-Grumbach ◽  
K. Wagner ◽  
P.A. Wilkinson ◽  
E. Reid ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

2011 ◽  
Vol 26 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Arianna Guidubaldi ◽  
Carla Piano ◽  
Filippo M. Santorelli ◽  
Gabriella Silvestri ◽  
Martina Petracca ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis ofSPG4 reveals eleven novel mutations

2005 ◽  
Vol 25 (5) ◽  
pp. 506-506 ◽  
Author(s):  
Clarice Patrono ◽  
Valentina Scarano ◽  
Federica Cricchi ◽  
Mariarosa A. B. Melone ◽  
Maria Chiriaco ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

2016 ◽  
Vol 20 (3) ◽  
pp. 444-448 ◽  
Author(s):  
M. Masciullo ◽  
A. Tessa ◽  
S. Perazza ◽  
F.M. Santorelli ◽  
A. Perna ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations ◽  
Phenotype Variability

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

2018 ◽  
Vol 63 (9) ◽  
pp. 1009-1013 ◽  
Author(s):  
Kishin Koh ◽  
◽  
Hiroyuki Ishiura ◽  
Minako Beppu ◽  
Haruo Shimazaki ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cerebellar Ataxia ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

2007 ◽  
Vol 14 (7) ◽  
pp. 809-814 ◽  
Author(s):  
A. K. Erichsen ◽  
E. Inderhaug ◽  
M. Mattingsdal ◽  
K. Eiklid ◽  
C. M. E. Tallaksen
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18

2016 ◽  
Vol 129 (22) ◽  
pp. 2759-2761 ◽  
Author(s):  
Wo-Tu Tian ◽  
Jun-Yi Shen ◽  
Xiao-Li Liu ◽  
Tian Wang ◽  
Xing-Hua Luan ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Lipid Raft ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

2006 ◽  
Vol 63 (5) ◽  
pp. 750 ◽  
Author(s):  
Francesca Crippa ◽  
Chris Panzeri ◽  
Andrea Martinuzzi ◽  
Alessia Arnoldi ◽  
Francesca Redaelli ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations ◽  
Large Sample
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