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Congenital Fiber Type Disproportion
Known as:
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
, Fiber-type disproportion
, FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL
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A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern…
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National Institutes of Health
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Related topics
Related topics
22 relations
ACTA1 gene
Autosomal dominant inheritance
Autosomal recessive inheritance
Blepharoptosis
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Broader (1)
Congenital Structural Myopathy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Congenital Fiber-Type Disproportion
Corrado Angelini
Definitions
2020
Corpus ID: 45592271
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement…
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Highly Cited
2008
Highly Cited
2008
Recent process improvements for the ammonia fiber expansion (AFEX) process and resulting reductions in minimum ethanol selling price.
E. Sendich
,
M. Laser
,
+4 authors
L. Lynd
Bioresource Technology
2008
Corpus ID: 29256924
Highly Cited
2007
Highly Cited
2007
Highly Birefringent Elliptical-Hole Photonic Crystal Fibers With Double Defect
Daru Chen
,
Linfang Shen
Journal of Lightwave Technology
2007
Corpus ID: 3093492
A novel elliptical-hole photonic crystal fiber (PCF) with double defect is theoretically investigated, and its high birefringence…
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Review
2007
Review
2007
Advances in the Design and Fabrication of High-Channel-Count Fiber Bragg Gratings
Hongpu Li
,
Ming Li
,
Y. Sheng
,
J. Rothenberg
Journal of Lightwave Technology
2007
Corpus ID: 27123170
In this paper, we review our recent developments in the design and fabrication techniques for high-channel-count fiber Bragg…
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Highly Cited
2003
Highly Cited
2003
Development of a system for laser splicing photonic crystal fiber.
J. Chong
,
M. Rao
Optics Express
2003
Corpus ID: 29457946
Silica photonic crystal fiber (PCF) is a new type of fiber that has an array of microscopic air holes running along its length…
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1999
1999
Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy
B. Banwell
,
L. Becker
,
V. Jay
,
G. P. Taylor
,
J. Vajsar
Journal of Child Neurology
1999
Corpus ID: 9700243
Cardiac involvement has not been a reported feature of congenital fiber-type disproportion myopathy. We describe two children…
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Highly Cited
1997
Highly Cited
1997
Glass fiber reinforcement in repaired acrylic resin removable dentures: preliminary results of a clinical study.
Vallittu Pk
1997
Corpus ID: 71075295
Abstract The clinical usefulness of continuous E-glass partial fiber reinforcement of acrylic resin removable dentures was…
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Highly Cited
1993
Highly Cited
1993
Is large myelinated fiber loss associated with hyperalgesia in a model of experimental peripheral neuropathy in the rat?
R. Coggeshall
,
P. Dougherty
,
C. Pover
,
S. Carlton
Pain
1993
Corpus ID: 43303622
Highly Cited
1992
Highly Cited
1992
Responses of sagittally aligned Purkinje cells during perturbed locomotion: synchronous activation of climbing fiber inputs.
Jau-Shin Lou
,
J. Bloedel
Journal of Neurophysiology
1992
Corpus ID: 19469524
1. These experiments were performed to test the hypothesis that climbing fiber inputs to sagittally aligned Purkinje cells…
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Review
1979
Review
1979
The peritoneal dialysis system.
K. Nolph
,
Z. Twardowski
Contributions to Nephrology
1979
Corpus ID: 5271248
The peritoneal dialysis system can be considered as nature’s version of a capillary kidney [1]. Peritoneal dialysis probably…
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