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[PDF] ALS2-Related Disorders GeneReview, Table 3

[PDF] from nih.govES Bertini, E Eymard-Pierre, O Boespflug-Tanguy… - 2011 - ncbi.nlm.nih.gov
... Devon RS, Helm JR, Rouleau GA, Leitner Y, Lerman-Sagie T, Lev D, Hayden MR (2003) The
first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending
spastic paralysis with bulbar involvement in two siblings. Clin Genet 64:210-5 ...
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Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening

DW Begley, DR Davies, RC Hartley… - … Section F: Structural …, 2011 - scripts.iucr.org
... Glutaric acidemia type 1 is an inherited metabolic disorder which can cause
macrocephaly, muscular rigidity, spastic paralysis and other progressive movement
disorders in humans. The defects in glutaryl-CoA dehydrogenase ...

Tetanus toxin binding and entry into neurons

C Chen - 2011 - gradworks.umi.com
... at the peripheral neuromuscular junction which results in flaccid paralysis, while TeNT initially
binds to peripheral neurons and retrograde traffics to the central nervous system where glycine
release is blocked in TeNT intoxicated inhibitory inter-neurons to elicit spastic paralysis. ...
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The understanding and operative treatment of cerebral palsy at the turn of the twentieth century: Harvey Cushing's early forays into pediatric neurosurgery

JM Dmetrichuk, C Pendleton, ES Ahn… - Child's Nervous …, 2011 - Springer
... The earliest report to our knowledge of tendon transfer for the symptomatic treatment of cerebral
palsy is that of Dr. Robert Jones of England, in 1903 [2]. Jones notably credited Americans with
“more serious and consecutive work” in spastic paralysis and further explained that in ...
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Alfa-Class Prefoldin Protein UXT is a novel Interacting Partner of Amyotrophic Lateral Sclerosis 2 (Als2) Protein

I Enunlu, M Ozansoy… - Biochemical and Biophysical Research …, 2011 - Elsevier
... Abstract. Mutations in Als2 gene cause several autosomal recessive forms of motor neuron
diseases including Juvenile Amyotrophic Lateral Sclerosis (JALS), juvenile Primary lateral
Sclerosis (PLSJ) and Infantile-onset Ascending Hereditary Spastic Paralysis (IAHSP). ...

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