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GLRA1 gene
Known as:
stiff person syndrome
, GLYCINE RECEPTOR, ALPHA-1 SUBUNIT
, GLRA1
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National Institutes of Health
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Related topics
Related topics
1 relation
glycine receptor alpha1
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Inter- and Intra-Subunit Butanol/Isoflurane Sites of Action in the Human Glycine Receptor
Mandy L. McCracken
,
G. Gorini
,
Lindsay M. McCracken
,
R. Mayfield
,
R. Harris
,
J. Trudell
Frontiers in Molecular Neuroscience
2016
Corpus ID: 16493820
Glycine receptors (GlyRs) mediate inhibitory neurotransmission and are targets for alcohols and anesthetics in brain. GlyR…
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2013
2013
Anesthetic care of stiff person syndrome in the outpatient setting
L. Neubert
,
Parmis Green
,
M. Green
2013
Corpus ID: 72949568
Introduction: Stiff Person Syndrome is characterized as a neurological disease causing fluctuating muscle rigidity escalating to…
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2013
2013
Antiglycine receptor-related stiff limb syndrome in a patient with chronic lymphocytic leukaemia
Angelika Derksen
,
M. Stettner
,
W. Stöcker
,
R. Seitz
BMJ Case Reports
2013
Corpus ID: 41019408
We report a 61-year-old man presenting with rapidly progressive stiffness and painful muscle spasms in the lower extremity…
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2012
2012
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families
S. L. Gilbert
,
F. Ozdağ
,
U. Ulaş
,
W. Dobyns
,
B. Lahn
Molecular diagnosis (Print)
2012
Corpus ID: 34553245
AbstractBackground: Hyperekplexia, also known as startle disease or stiff-person syndrome, is a neurological condition…
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2012
2012
GAD autoantibody epitope pattern after GAD‐alum treatment in children and adolescents with type 1 diabetes
C. Skoglund
,
M. Chéramy
,
R. Casas
,
J. Ludvigsson
,
C. Hampe
Pediatric Diabetes
2012
Corpus ID: 28183553
Skoglund C, Chéramy M, Casas R, Ludvigsson J, Hampe CS. GAD autoantibody epitope pattern after GAD‐alum treatment in children and…
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Review
2010
Review
2010
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen.
A. Vincent
Brain : a journal of neurology
2010
Corpus ID: 41001588
This is an exciting time for neuroimmunology. Over the last 10 years, several clinical syndromes have been shown to associate…
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2010
2010
PATH40 Spectrum of clinical disease in hyperekplexia: the genotypes and phenotypes of 48 cases
R. Thomas
,
S. Chung
,
C. L. Hammond
,
A. Robinson
,
M. Rees
Journal of Neurology Neurosurgery & Psychiatry
2010
Corpus ID: 53764703
Hyperekplexia is a rare, potentially treatable neurogenetic condition: two major genes of effect are described—one postsynaptic…
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2009
2009
Protective and detrimental immunity: lessons from stiff person syndrome and multiple sclerosis
T. Holmøy
,
G. Skorstad
,
A. Hestvik
,
K. Alvik
,
F. Vartdal
Acta Neurologica Scandinavica, Supplementum
2009
Corpus ID: 26148392
Background – The immune system may attack the brain and cause inflammatory disorders like multiple sclerosis (MS). On the other…
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2007
2007
[Stiff person syndrome associated with thymoma. Efficacy of thymectomy].
L. Essalmi
,
N. Méaux‐Ruault
,
C. Hafsaoui
,
H. Gil
,
E. Curlier
,
J. Dupond
La Revue de medecine interne
2007
Corpus ID: 42129860
INTRODUCTION Stiff person syndrome is a rare autoimmune neurologic disorder characterized by axial muscular rigidity and…
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Review
2003
Review
2003
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.
P. Lapunzina
,
Juan-Maria Sanchez
,
+6 authors
I. López Pajares
Molecular diagnosis (Print)
2003
Corpus ID: 10745974
BACKGROUND We report on a novel mutation (S270T) in the M2 domain of the GLRA1 (alpha subunit of the glycine receptor) gene…
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