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Adrenomyeloneuropathy

Known as: AMN 
National Institutes of Health

Related topics

Related topics

1 relation
Adrenoleukodystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells
Mutations in either cubilin (CUBN) or amnionless (AMN) genes cause Imerslund–Gräsbeck syndrome (IGS), a hereditary disease… 
Review
2015
Review
2015
AN ATOMIC APPROACH TO ANIMATED MUSIC NOTATION
Since the turn of the century, and in particular the last 15 years, 1 the discourse surrounding dynamic scoring techniques and… 
2014
2014
Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund‐Gräsbeck Syndrome) in Juvenile Beagles
Background Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund‐Gräsbeck syndrome; I‐GS), is an… 
2013
2013
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
BackgroundImerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is… 
Review
2012
Review
2012
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
BackgroundInherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three… 
Highly Cited
2011
Highly Cited
2011
Antioxidants Halt Axonal Degeneration in a Mouse Model of X-Adrenoleukodystrophy
Axonal degeneration is a main contributor to disability in progressive neurodegenerative diseases in which oxidative stress is… 
Highly Cited
2004
Highly Cited
2004
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively… 
Highly Cited
2003
Highly Cited
2003
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic… 
Highly Cited
2001
Highly Cited
2001
Synthesis and photophysical and cation-binding properties of mono- and tetranaphthylcalix[4]arenes as highly sensitive and selective fluorescent sensors for sodium.
The syntheses and properties of two calixarene-based fluorescent molecular sensors are reported. These comprise tert-butylcalix[4… 
Review
1995
Review
1995
MEWDS, MFC, PIC, AMN, AIBSE, and AZOOR: one disease or many?
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