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KIF5A gene
Known as:
KINESIN FAMILY MEMBER 5A
, NKHC
, KIF5A
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National Institutes of Health
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Related topics
Related topics
1 relation
KIF5B gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
C. P. de Fuenmayor-Fernández de la Hoz
,
A. Hernández-Laín
,
M. Olivé
,
M. T. Sánchez-Calvín
,
J. F. Gonzalo-Martínez
,
C. Domínguez-González
Brain : a journal of neurology
2019
Corpus ID: 204702592
2015
2015
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
Eva López
,
C. Casasnovas
,
J. Giménez
,
R. Santamaría
,
Jesús Mª. Terrazas
,
V. Volpini
Journal of Neurological Sciences
2015
Corpus ID: 46465994
Review
2014
Review
2014
Interaction of different proteins with GABAA receptor and their modulatory effect on inhibitory neural transmission leads to epilepsy.
M. Faheem
,
A. Chaudhary
,
+6 authors
M. Naseer
CNS and Neurological Disorders - Drug Targets
2014
Corpus ID: 1201501
γ-Aminobutyric acid type A receptors (GABAARs) are key players in the mediation of synaptic inhibition in the mammalian brain…
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2014
2014
Kinesin-dependent motility generation as target mechanism of cadmium intoxication.
K. Böhm
Toxicology Letters
2014
Corpus ID: 22306713
2013
2013
Changes in kinesin expression in the CNS of mice with dynein heavy chain 1 mutation.
M. Kuźma-Kozakiewicz
,
Beata Kaźmierczak
,
E. Usarek
,
A. Barańczyk-Kuźma
Acta Biochimica Polonica
2013
Corpus ID: 3035266
Dysfunction of fast axonal transport, vital for motor neurons, may lead to neurodegeneration. Anterograde transport is mediated…
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2012
2012
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype.
F. Caso
,
C. Villa
,
+9 authors
D. Galimberti
Journal of Alzheimer's Disease
2012
Corpus ID: 13588205
The progranulin gene (GRN) g.10325_10331delCTGCTGT (relative to nt1 in NG_007886.1), alias Cys157LysfsX97, has been so far…
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2011
2011
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
O. Musumeci
,
M. Bassi
,
+4 authors
A. Toscano
Neurological Sciences
2011
Corpus ID: 29882084
Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and…
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2008
2008
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy
A. Tessa
,
Gabriella Silvestri
,
+9 authors
F. M. Santorelli
Journal of Neurology
2008
Corpus ID: 31470455
JO N 2 84 0 5 % of the AD-HSP patients harbor mutations in less common genes (NIPA1/SPG6, KIF5A/SPG10, REEP1/SPG31, BSCL2/SPG17…
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Highly Cited
2006
Highly Cited
2006
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
M. Lo Giudice
,
M. Neri
,
+4 authors
M. Fichera
Archives of Neurology
2006
Corpus ID: 23803689
BACKGROUND To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been…
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2003
2003
β-Dystrobrevin interacts directly with kinesin heavy chain in brain
P. Macioce
,
G. Gambara
,
+6 authors
T. Petrucci
Journal of Cell Science
2003
Corpus ID: 27097248
β-Dystrobrevin, a member of the dystrobrevin protein family, is a dystrophin-related and -associated protein restricted to non…
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