Familial infantile myasthenia

Known as: Myasthenia, Familial Infantile, CMSEA, CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1972-2017
05101519722017

Related topics

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9 relations

Broader (2)

ApneaMyasthenia Gravis
Autosomal recessive inheritanceBlepharoptosisBulbar weaknessDeglutition Disorders
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Familial infantile myasthenia
Autosomal recessive inheritance
Deglutition Disorders
Apnea
Myasthenia Gravis
Blepharoptosis

Papers overview

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2015
2015
MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism.
Our understanding of stress-associated regulatory mechanisms for mitochondria remains incomplete. We now report a new regulator… (More)
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Highly Cited
2008
Highly Cited
2008
Elesclomol induces cancer cell apoptosis through oxidative stress.
Elesclomol (formerly STA-4783) is a novel small molecule undergoing clinical evaluation in a pivotal phase III melanoma trial… (More)
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2004
2004
Characterization and tissue-specific expression of human LRIG2.
We have recently identified and cloned the human LRIG1 gene (formerly LIG1). LRIG1 is a predicted integral membrane protein with… (More)
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2003
2003
LRIG1 protein in human cells and tissues
We have recently cloned the human LRIG1 gene (formerly LIG1). LRIG1 is a predicted integral cell-surface protein showing… (More)
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Highly Cited
2002
Highly Cited
2002
A unified nomenclature for the superfamily of TRP cation channels.
The TRP superfamily includes a diversity of non-voltagegated cation channels that vary significantly in their selectivity and… (More)
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2002
2002
Biosynthesis pathway of ADP-L-glycero-beta-D-manno-heptose in Escherichia coli.
The steps involved in the biosynthesis of the ADP-L-glycero-beta-D-manno-heptose (ADP-L-beta-D-heptose) precursor of the inner… (More)
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Highly Cited
2000
Highly Cited
2000
BNIP3 and genetic control of necrosis-like cell death through the mitochondrial permeability transition pore.
Many apoptotic signaling pathways are directed to mitochondria, where they initiate the release of apoptogenic proteins and open… (More)
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1998
1998
M100907 and Clozapine, but not Haloperidol or Raclopride, Prevent Phencyclidine-Induced Blockade of NMDA Responses in Pyramidal Neurons of the Rat Medial Prefrontal Cortical Slice
In the present study, we demonstrate that, in a concentration-dependent manner, M100907 (formerly MDL 100907, a highly selective… (More)
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1993
1993
Neurophysiological evaluation in myasthenia gravis. A comprehensive study of a complete patient population.
Electrical and mechanical responses to single shocks, slow and fast nerve stimulation (RNS), quantitated EMG, anti-acetylcholine… (More)
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1987
1987
Synaptic vesicle abnormality in familial infantile myasthenia.
In familial infantile myasthenia (FIM) the miniature end-plate potential (MEPP) amplitude is normal in rested muscle, but… (More)
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