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Adrenomyeloneuropathy
Known as:
AMN
National Institutes of Health
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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
T. Udagawa
,
Y. Harita
,
+11 authors
A. Oka
Scientific Reports
2018
Corpus ID: 3267634
Mutations in either cubilin (CUBN) or amnionless (AMN) genes cause Imerslund–Gräsbeck syndrome (IGS), a hereditary disease…
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Review
2015
Review
2015
AN ATOMIC APPROACH TO ANIMATED MUSIC NOTATION
Ryan Ross
2015
Corpus ID: 26968178
Since the turn of the century, and in particular the last 15 years, 1 the discourse surrounding dynamic scoring techniques and…
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2014
2014
Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund‐Gräsbeck Syndrome) in Juvenile Beagles
J. Fyfe
,
S. Hemker
,
P. Venta
,
B. Stebbing
,
U. Giger
Journal of Veterinary Internal Medicine
2014
Corpus ID: 17987829
Background Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund‐Gräsbeck syndrome; I‐GS), is an…
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2013
2013
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Tina Storm
,
C. Zeitz
,
+13 authors
R. Kozyraki
BMC Medical Genetics
2013
Corpus ID: 6640789
BackgroundImerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is…
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Review
2012
Review
2012
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
S. M. Tanner
,
A. Sturm
,
E. Baack
,
S. Liyanarachchi
,
A. de la Chapelle
Orphanet Journal of Rare Diseases
2012
Corpus ID: 8664169
BackgroundInherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three…
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Highly Cited
2011
Highly Cited
2011
Antioxidants Halt Axonal Degeneration in a Mouse Model of X-Adrenoleukodystrophy
J. López-Erauskin
,
S. Fourcade
,
+8 authors
A. Pujol
Annals of Neurology
2011
Corpus ID: 14357262
Axonal degeneration is a main contributor to disability in progressive neurodegenerative diseases in which oxidative stress is…
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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
S. M. Tanner
,
Zhongyuan Li
,
+11 authors
A. Chapelle
Human Mutation
2004
Corpus ID: 2486499
Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively…
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Highly Cited
2003
Highly Cited
2003
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
S. M. Tanner
,
M. Aminoff
,
+7 authors
A. Chapelle
Nature Genetics
2003
Corpus ID: 30816649
The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic…
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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.
I. Leray
,
J. Lefevre
,
J. Delouis
,
J. Delaire
,
B. Valeur
Chemistry
2001
Corpus ID: 11677442
The syntheses and properties of two calixarene-based fluorescent molecular sensors are reported. These comprise tert-butylcalix[4…
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Review
1995
Review
1995
MEWDS, MFC, PIC, AMN, AIBSE, and AZOOR: one disease or many?
L. Jampol
,
A. Wiredu
Retina
1995
Corpus ID: 41398758
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