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CAPOS syndrome

Known as: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS, CAPOS, Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 
National Institutes of Health

Related topics

Related topics

14 relations
Ataxia, TruncalAutosomal dominant inheritanceCerebellar AtaxiaDysarthria

Broader (3)

Congenital Foot DeformityReflex, AbnormalSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
The CUL4B gene encodes a member of Cullin–RING ubiquitin ligase complex. Point mutations in CUL4B were identified recently in… 
Review
2003
Review
2003
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.
BACKGROUND Charcot-Marie-Tooth disease (CMT) type 2 is the axonal variant of an inherited, sensorimotor polyneuropathy. To our… 
2000
2000
Electromotive administration of intravesical bethanechol and the clinical impact on acontractile detrusor management: introduction of a new test.
Highly Cited
1999
Highly Cited
1999
A very high accuracy potential energy surface for H3
An exact quantum Monte Carlo (EQMC) method was used to calculate the potential energy surface (PES) for the ground electronic… 
1997
1997
Krabbe's disease presenting as a peripheral neuropathy
A 13‐year‐old female initially presented with scoliosis and pes cavus. Initial examination revealed distal lower extremity… 
Highly Cited
1994
Highly Cited
1994
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
DNA markers on the X chromosome were used to map the locus for an unusual form of X-linked recessive hereditary motor and sensory… 
Highly Cited
1983
Highly Cited
1983
Pathogenesis of pes cavus in Charcot-Marie-Tooth disease.
Of 22 persons from a single kinship of known Charcot-Marie-Tooth (CMT) disease, 12 were found to be affected. All 12 had a pes… 
1980
1980
Failure of bethanechol denervation supersensitivity as a diagnostic aid.
1963
1963
"IDIOPATHIC" PES CAVUS: AN INVESTIGATION INTO ITS AETIOLOGY.
1950
1950
HEREDITARY SPASTIC PARAPLEGIA WITH AMYOTROPHY AND PES CAVUS
The hereditary " ataxias " comprise a group of well recognized degenerative disorders of the central nervous system wherein the… 
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