MASA SYNDROME (disorder)

Known as: ADDUCTED THUMB WITH MENTAL RETARDATION, Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA), X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (Hsas) 
 
National Institutes of Health

Related topics

Related topics

14 relations
Agenesis of corpus callosumAphasiaCongenital clubfootHydrocephalus
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Broader (3)

Genetic Diseases, X-LinkedIntellectual DisabilitySpastic Paraplegia, Hereditary

Papers overview

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Highly Cited
2010
Highly Cited
2010
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Hereditary spastic paraplegias (HSPs; SPG1-45) are inherited neurological disorders characterized by lower extremity spastic… (More)
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Highly Cited
2008
Highly Cited
2008
Functional lateralization of face, hand, and trunk representation in anatomically defined human somatosensory areas.
We used functional magnetic resonance imaging (fMRI) and cytoarchitectonic probability maps to investigate the responsiveness of… (More)
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Highly Cited
2006
Highly Cited
2006
Standardized descriptions of primate locomotor and postural modes
As quantitative studies on primate positional behavior accumulate the lack of a standard positional mode terminology is becoming… (More)
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Highly Cited
2004
Highly Cited
2004
Clinicopathological investigation of vascular parkinsonism, including clinical criteria for diagnosis.
Vascular parkinsonism (VP) is difficult to diagnose with any degree of clinical certainty. We investigated the importance of… (More)
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Highly Cited
1999
Highly Cited
1999
Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice.
In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes… (More)
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Highly Cited
1998
Highly Cited
1998
Byr4 and Cdc16 form a two-component GTPase-activating protein for the Spg1 GTPase that controls septation in fission yeast
BACKGROUND Spatial and temporal control of cytokinesis ensures the accurate transmission of genetic material and the correct… (More)
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Highly Cited
1997
Highly Cited
1997
The Spg1p GTPase is an essential, dosage-dependent inducer of septum formation in Schizosaccharomyces pombe.
The spg1 gene (septum-promoting GTPase) was cloned as a multicopy suppressor of a dominant-negative mutant of the Cdc7p kinase… (More)
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Highly Cited
1994
Highly Cited
1994
X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28… (More)
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1994
1994
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
MASA syndrome is a recessive X–linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and… (More)
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Highly Cited
1993
Highly Cited
1993
Corticospinal terminations in two new-world primates: further evidence that corticomotoneuronal connections provide part of the neural substrate for manual dexterity.
Anterograde transport of 2-10% WGA-HRP was used to examine the pattern of termination of efferents from the primary motor cortex… (More)
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