Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

2019 ◽  
Vol 41 (2) ◽  
pp. 412-419 ◽  
Author(s):  
Carmel G. McCullough ◽  
Szabolcs Szelinger ◽  
Newell Belnap ◽  
Keri Ramsey ◽  
Isabelle Schrauwen ◽  
...  
Keyword(s):  
Sibling Pair ◽  
Outlier Analysis ◽  
Spastic Paraplegia

Hereditary motor and sensory neuropathy type V or complicated form of spastic paraplegia?

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Schöls ◽  
R Schüle ◽  
B Mauko ◽  
M Auer-Grumbach ◽  
L Schöls
Keyword(s):  
Sensory Neuropathy ◽  
Spastic Paraplegia ◽  
Hereditary Motor ◽  
Complicated Form ◽  
Type V ◽  
Motor And Sensory Neuropathy

Gait Patterns in Hereditary Spastic Paraplegia

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Döderlein ◽  
D Metaxiotis ◽  
S Wolf ◽  
F Braatz
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Gait Patterns

SPG10 in German families with hereditary spastic paraplegia

2006 ◽  
Vol 33 (S 1) ◽  
Author(s):  
R. Schüle ◽  
M. Auer-Grumbach ◽  
J. Kassubek ◽  
S. Klimpe ◽  
T. Klopstock ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Evolocumab (PCSK9 Inhibitor) in Hereditary Spastic Paraplegia Type 5

2020 ◽  
Author(s):  
Ying Fu ◽  
Xiang Lin ◽  
Yi-Jun Chen ◽  
Lu-Lu Lai ◽  
Yi Lin ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Pcsk9 Inhibitor

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

2021 ◽  
Author(s):  
Francisco J. Navas-Sánchez ◽  
Alberto Fernández-Pena ◽  
Daniel Martín de Blas ◽  
Yasser Alemán-Gómez ◽  
Luís Marcos-Vidal ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia
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