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tubular aggregates

Known as: tubular aggregate 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis
We present three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a… Expand
Highly Cited
2015
Highly Cited
2015
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
The store-operated Ca(2+) release-activated Ca(2+) (CRAC) channel is activated by diminished luminal Ca(2+) levels in the… Expand
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Highly Cited
2011
Highly Cited
2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the… Expand
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2011
2011
Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement
Tubular aggregates (TAs), ordered arrays of elongated sarcoplasmic reticulum (SR) tubules, are present in skeletal muscle from… Expand
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2004
2004
Emerin expression in tubular aggregates
Emerin is an inner nuclear membrane protein that is mutated or not expressed in patients with X-linked Emery-Dreifuss muscular… Expand
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Review
2003
Review
2003
Structure and composition of tubular aggregates of skeletal muscle fibres.
Unusual regions of densely packed membranous tubules known as tubular aggregates (TAs) have been observed in skeletal muscle… Expand
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2003
2003
Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress
Dysferlin is a newly identified sarcolemmal protein related to Miyoshi myopathy and limb-girdle muscular dystrophy. Although its… Expand
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2001
2001
Dominantly inherited myopathy with novel tubular aggregates containing 1–21 tubulofilamentous structures
Abstract. Tubular aggregates (TAs) in skeletal muscle fibers have been observed as a nonspecific finding in a number of different… Expand
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Highly Cited
2000
Highly Cited
2000
Age-related appearance of tubular aggregates in the skeletal muscle of almost all male inbred mice
Abstract. Tubular aggregates (TAs) which have been recently observed in a few mouse myopathies are identical to those described… Expand
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2000
2000
Tubular aggregates in the skeletal muscle of the senescence-accelerated mouse; SAM
We investigated the skeletal muscles of nine strains of senescence accelerated mouse (SAM), DDD, AKR/J, C57BL/6J, A/J and BALB/c… Expand
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