Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

2011 ◽  
Vol 81 (2) ◽  
pp. 150-157 ◽  
Author(s):  
A Arnoldi ◽  
C Crimella ◽  
E Tenderini ◽  
A Martinuzzi ◽  
MG D'Angelo ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Clinical Phenotype ◽  
Spastic Paraplegia ◽  
Phenotype Variability

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

scholarly journals Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10: Table 1

2014 ◽  
Vol 86 (6) ◽  
pp. 702-704 ◽  
Author(s):  
Laura Carosi ◽  
Temistocle Lo Giudice ◽  
Martina Di Lullo ◽  
Federica Lombardi ◽  
Carla Babalini ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Novel Mutation ◽  
Spastic Paraplegia ◽  
Phenotype Variability

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

2018 ◽  
Vol 40 (6) ◽  
pp. 458-464 ◽  
Author(s):  
Didem Yücel-Yılmaz ◽  
Emrah Yücesan ◽  
Dilek Yalnızoğlu ◽  
Kader Karlı Oğuz ◽  
Mahmut Şamil Sağıroğlu ◽  
...  
Keyword(s):  
Life Span ◽  
Hereditary Spastic Paraplegia ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Spastic Paraplegia

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

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes

2021 ◽  
Author(s):  
Katiane R. Servelhere ◽  
Thiago Junqueira Ribeiro Rezende ◽  
Fabrício Diniz Lima ◽  
Mariana Rabelo Brito ◽  
Renan Flávio França Nunes ◽  
...  
Keyword(s):  
Gene Expression ◽  
Brain Damage ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia
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