scholarly journals 788: HOMOZYGOUS NONSENSE MUTATION IN ARL6IP1 LEADS TO SEVERE PHENOTYPE OF HEREDITARY SPASTIC PARAPLEGIA

2021 ◽  
Vol 50 (1) ◽  
pp. 388-388
Author(s):  
Jordan Klein ◽  
Michael Spaeder
Keyword(s):  
Nonsense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Severe Phenotype ◽  
Homozygous Nonsense Mutation

scholarly journals Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

2018 ◽  
Vol 9 (4) ◽  
pp. 190-196 ◽  
Author(s):  
Pascaline Letard ◽  
Dorien Schepers ◽  
Juliette Albuisson ◽  
Patrick Bruneval ◽  
Emmanuel Spaggiari ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Cutis Laxa ◽  
Severe Phenotype ◽  
Homozygous Nonsense Mutation

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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