A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

2012 ◽  
Vol 49 (7) ◽  
pp. 462-472 ◽  
Author(s):  
Yifat Zivony-Elboum ◽  
Wendy Westbroek ◽  
Nehama Kfir ◽  
David Savitzki ◽  
Yishay Shoval ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Founder Mutation ◽  
Spastic Paraparesis ◽  
Hereditary Spastic Paraparesis

scholarly journals Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene

Neurosciences ◽  
2017 ◽  
Vol 22 (4) ◽  
pp. 303-307 ◽  
Author(s):  
Shakya Bhattacharjee ◽  
Nicholas Beauchamp ◽  
Brian Murray ◽  
Timothy Lynch
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Spastic Paraparesis ◽  
Case Series ◽  
Hereditary Spastic Paraparesis

Hereditary spastic paraparesis and psychosis

2006 ◽  
Vol 13 (8) ◽  
pp. 874-879 ◽  
Author(s):  
P. McMonagle ◽  
M. Hutchinson ◽  
B. Lawlor
Keyword(s):  
Spastic Paraparesis ◽  
Hereditary Spastic Paraparesis

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

2014 ◽  
Vol 262 (2) ◽  
pp. 476-478 ◽  
Author(s):  
Marina Scarlato ◽  
Arturo Nuara ◽  
Simonetta Gerevini ◽  
Sara Benedetti ◽  
Paolo Rossi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Spastic Paraparesis ◽  
Hereditary Spastic Paraparesis

Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

2004 ◽  
Vol 19 (6) ◽  
pp. 641-648 ◽  
Author(s):  
Anthony P. Nicholas ◽  
Elizabeth O'Hearn ◽  
Susan E. Holmes ◽  
Dung-Tsa Chen ◽  
Russell L. Margolis
Keyword(s):  
Spastic Paraparesis ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Hereditary Spastic Paraparesis ◽  
Clinical Signs And Symptoms

Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p

Neurology ◽  
2000 ◽  
Vol 54 (7) ◽  
pp. 1510-1517 ◽  
Author(s):  
P. C. Byrne ◽  
P. Mc Monagle ◽  
S. Webb ◽  
B. Fitzgerald ◽  
N. A. Parfrey ◽  
...  
Keyword(s):  
Cognitive Decline ◽  
Spastic Paraparesis ◽  
Hereditary Spastic Paraparesis ◽  
Age Related ◽  
Age Related Cognitive Decline
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