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Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A
Journal of Neurology
◽
10.1007/s00415-021-10924-9
◽
2022
◽
Author(s):
Halil Onder
◽
Atay Vural
◽
Neslihan Duzkale
◽
Bilge Kocer
◽
Selcuk Comoglu
Keyword(s):
Hereditary Spastic Paraplegia
◽
Rare Case
◽
Missense Variant
◽
Motor Domain
◽
Spastic Paraplegia
Download Full-text
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References
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia
Acta Neurologica Belgica
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10.1007/s13760-018-1039-0
◽
2018
◽
Vol 118
(4)
◽
pp. 643-646
◽
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Author(s):
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...
Keyword(s):
Hereditary Spastic Paraplegia
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Southern Italy
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Motor Domain
◽
Spastic Paraplegia
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Inherited Diseases
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Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene
European Journal of Neurology
◽
10.1111/ene.13279
◽
2017
◽
Vol 24
(5)
◽
pp. 741-747
◽
Cited By ~ 13
Author(s):
M. Krenn
◽
G. Zulehner
◽
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J. Rath
◽
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◽
...
Keyword(s):
Hereditary Spastic Paraplegia
◽
Motor Domain
◽
Compound Heterozygous
◽
Spastic Paraplegia
◽
Compound Heterozygous Mutations
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Abstract #834: Complete Reversal of Clinical Symptoms and Signs of the Hereditary Spastic Paraplegia Syndrome Following a Short Course of Sympathomimetic Amine Therapy
Endocrine Practice
◽
10.1016/s1530-891x(20)42759-4
◽
2015
◽
Vol 21
◽
pp. 164
Author(s):
Jerome Check
◽
Michael Dougherty
◽
Diane Check
Keyword(s):
Hereditary Spastic Paraplegia
◽
Clinical Symptoms
◽
Spastic Paraplegia
◽
Sympathomimetic Amine
◽
Short Course
◽
Complete Reversal
◽
Symptoms And Signs
Download Full-text
Further understanding Hereditary Spastic Paraplegia
Nature Middle East
◽
10.1038/nmiddleeast.2009.57
◽
2009
◽
Author(s):
Mohammed Yahia
Keyword(s):
Hereditary Spastic Paraplegia
◽
Spastic Paraplegia
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Gait Patterns in Hereditary Spastic Paraplegia
Klinische Neurophysiologie
◽
10.1055/s-2006-939120
◽
2006
◽
Vol 37
(01)
◽
Author(s):
L Döderlein
◽
D Metaxiotis
◽
S Wolf
◽
F Braatz
Keyword(s):
Hereditary Spastic Paraplegia
◽
Spastic Paraplegia
◽
Gait Patterns
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SPG10 in German families with hereditary spastic paraplegia
Aktuelle Neurologie
◽
10.1055/s-2006-953109
◽
2006
◽
Vol 33
(S 1)
◽
Author(s):
R. Schüle
◽
M. Auer-Grumbach
◽
J. Kassubek
◽
S. Klimpe
◽
T. Klopstock
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...
Keyword(s):
Hereditary Spastic Paraplegia
◽
Spastic Paraplegia
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Evolocumab (PCSK9 Inhibitor) in Hereditary Spastic Paraplegia Type 5
SSRN Electronic Journal
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10.2139/ssrn.3569873
◽
2020
◽
Author(s):
Ying Fu
◽
Xiang Lin
◽
Yi-Jun Chen
◽
Lu-Lu Lai
◽
Yi Lin
◽
...
Keyword(s):
Hereditary Spastic Paraplegia
◽
Spastic Paraplegia
◽
Pcsk9 Inhibitor
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology
◽
10.1007/s00415-020-10387-4
◽
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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Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes
Movement Disorders
◽
10.1002/mds.28519
◽
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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Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation
Autophagy
◽
10.1080/15548627.2021.1891848
◽
2021
◽
pp. 1-17
Author(s):
Mukhran Khundadze
◽
Federico Ribaudo
◽
Adeela Hussain
◽
Henry Stahlberg
◽
Nahal Brocke-Ahmadinejad
◽
...
Keyword(s):
Mouse Models
◽
Hereditary Spastic Paraplegia
◽
Spastic Paraplegia
Download Full-text
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