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CHRNE gene
Known as:
CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE
, ACHRE
, cholinergic receptor nicotinic epsilon subunit
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National Institutes of Health
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Related topics
Related topics
1 relation
CHRNB4 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Congenital myasthenic syndrome withe chrne mutation clinical and electrophysiological aspects (in cosanguinous moroccan family)
R. Abdoh
Journal of Neurological Sciences
2019
Corpus ID: 209478074
2019
2019
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome
S. Parvizi Omran
,
Massod Houshmand
,
Donkor Dominic
,
Zahra Farjami
,
P. Karimzadeh
Iranian journal of child neurology
2019
Corpus ID: 132214863
Objectives We aimed to perform genetic testing and clinical data of patients with Congenital Myasthenic Syndrome, a rare disorder…
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2019
2019
DYSF and CHRNE ‘double-trouble’ mutations: A rare combination of limb girdle muscular dystrophy with congenital myasthenic syndrome in a South-Indian family
K. Polavarapu
,
S. Vengalil
,
+7 authors
A. Nalini
Journal of Neurological Sciences
2019
Corpus ID: 209477347
Review
2017
Review
2017
Challenges Working with Presidential Bioethics Commissions.
R. Macklin
The Hastings center report
2017
Corpus ID: 36645747
Presidential commissions come and go by design, and it is reasonable to wonder about the impact of their recommendations. I have…
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2015
2015
PP09.7 – 2375: Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE1267delG mutation. A long-term follow-up
D. Benito
,
J. Domínguez-Carral
,
+6 authors
J. Vílchez
2015
Corpus ID: 77303695
2013
2013
Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.
H. Houlden
Brain : a journal of neurology
2013
Corpus ID: 45464318
Congenital myasthenic syndromes are heterogeneous genetic disorders characterized by compromised neuromuscular transmission for…
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2011
2011
IRBs and The Long-Term Social Implications of Research
Inmaculada de Melo-Martín
American Journal of Bioethics
2011
Corpus ID: 21788973
Rourke, E. J. 1965. Edward J. Rourke, Assistant General Council, NIH to Dr. Luther L. Terry, Surgeon General, 16 September 1965…
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2003
2003
A New World Order for Human Experiments
J. Moreno
Accountability in Research
2003
Corpus ID: 46700266
Human experiments conducted for national security purposes are the pink elephant in the living room of bioethics. The Central…
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Review
1999
Review
1999
Observational Studies as Human Experimentation: The Uranium Mining Experience in the Navajo Nation (1947–66)
R. Moure-Eraso
New solutions : a journal of environmental and…
1999
Corpus ID: 10415325
This article evaluates how an observational epidemiologic study of federal agencies in uranium miners became an experiment of…
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1997
1997
If only it were so: medical physics, U.S. human radiation experiments, and the Final Report of the President's Advisory Committee (ACHRE)
R. Martensen
Medical humanities review
1997
Corpus ID: 37616314
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