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Hereditary spastic paralysis, infantile onset ascending
Known as:
Iahsp
, Spastic Paralysis, Infantile-Onset Ascending
, Infantile-Onset Ascending Hereditary Spastic Paralysis
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National Institutes of Health
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Related topics
Related topics
10 relations
Anarthria speech disorder
Autosomal recessive inheritance
Contracture of tendo achilles
Dysarthria
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Broader (1)
Spastic Paraplegia, Hereditary
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis
Huma Tariq
,
S. Mukhtar
,
S. Naz
Journal of neurogenetics
2017
Corpus ID: 3942414
Abstract Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We…
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2016
2016
Infantile-onset ascending spastic paraplegia phenotype associated with SPAST mutation
Paulo Victor Sgobbi Souza
,
T. Bortholin
,
F. Naylor
,
Wladimir Bocca Vieira de Rezende Pinto
,
A. Oliveira
Journal of Neurological Sciences
2016
Corpus ID: 206291826
Review
2014
Review
2014
Alsin Related Disorders: Literature Review and Case Study with Novel Mutations
F. Flôr-de-Lima
,
M. Sampaio
,
Nahid Nahavandi
,
S. Fernandes
,
M. Leão
Case Reports in Genetics
2014
Corpus ID: 14419991
Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary…
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2013
2013
[Infantile ascending hereditary spastic paralysis: MRI findings in a 15-year-old girl].
K. Goller
,
C. Reihle
,
S. Meckel
RöFo. Fortschritte auf dem Gebiet der R…
2013
Corpus ID: 25251569
2010
2010
DJ-1 forms complexes with mutant SOD1 and ameliorates its toxicity
S. Yamashita
,
A. Mori
,
+4 authors
M. Uchino
Neurosciences research
2010
Corpus ID: 53146532
2010
2010
Disturbance of endolysosomal protein degradation underlies the pathogenesis of ALS2-linked motor neuron diseases
S. Hadano
,
A. Otomo
,
+7 authors
J. Ikeda
Neurosciences research
2010
Corpus ID: 53180991
2009
2009
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
T. Herzfeld
,
N. Wolf
,
P. Winter
,
H. Hackstein
,
D. Vater
,
U. Müller
Neurogenetics
2009
Corpus ID: 24544727
Infantile-onset ascending spastic paralysis (OMIM #607225) is a rare autosomal recessive early onset motor neuron disease caused…
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2009
2009
Changes of Nogo-A and receptor NgR in the lumbar spinal cord of ALS model mice
K. Miyazaki
,
M. Nagai
,
+6 authors
K. Abe
Neurosciences research
2009
Corpus ID: 27748792
Abstract Detailed assessment of Nogo-A and its receptor NgR in the spinal cord of amyotrophic lateral sclerosis (ALS) models or…
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2008
2008
IAHSP caused by maternal uniparental isodisomy in ALS2
D. Vater
,
U. Müller
,
T. Herzfeld
,
P. Winter
,
H. Hackstein
,
N. Wolf
2008
Corpus ID: 71827437
2002
2002
Beyond Involvement: Making Choices and Taking Control
D. Davidson
,
N. Vick
2002
Corpus ID: 73338513
he growth of the service user/survivor movement over the last 20 years has provided an opportunity for people to speak openly…
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