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Myopathies, Nemaline

Known as: Myopathy, Rod Body, Nemaline Rod Disease, Myopathy, Rod 
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles… 
National Institutes of Health

Related topics

Related topics

26 relations

Narrower (14)

Adult Onset Nemaline MyopathyCardioneuromyopathy with Hyaline Masses and Nemaline RodsIntranuclear Rod MyopathyMyopathy, Actin, Congenital, with Excess of Thin Myofilaments
Benign congenital hypotoniaCentral Core Myopathy (disorder)Congenital muscular dystrophy (disorder)Floppy infant syndrome

Broader (1)

Myopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Nemaline myopathies: a current view
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited… 
Review
2013
Review
2013
International Workshop : Inclusion Body Myositis , 2 – 4 December 2011 , Naarden , The Netherlands
The 188th ENMC workshop titled “Inclusion Body Myositis” was held in Naarden, The Netherlands, 2–4 December 2011. The workshop… 
Review
2010
Review
2010
High‐throughput screening and small animal models, where are we?
Current high‐throughput screening methods for drug discovery rely on the existence of targets. Moreover, most of the hits… 
Review
2010
Review
2010
Centronuclear myopathies: A widening concept
Highly Cited
2009
Highly Cited
2009
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
Nemaline myopathy (NM) is the most common non-dystrophic congenital myopathy. Clinically the most important feature of NM is… 
Review
2005
Review
2005
Sporadic late onset nemaline myopathy
Objective: To review the clinicopathologic features and outcome of sporadic late onset nemaline myopathy (SLONM). Background: Non… 
Review
2001
Review
2001
Nemaline myopathy: A clinical study of 143 cases
We report 143 Australian and North American cases of primary nemaline myopathy. As classified by the European Neuromuscular… 
Highly Cited
2000
Highly Cited
2000
The neuroprotective agent riluzole activates the two P domain K(+) channels TREK-1 and TRAAK.
Riluzole (RP 54274) is a potent neuroprotective agent with anticonvulsant, sedative, and anti-ischemic properties. It is… 
Highly Cited
1998
Highly Cited
1998
The overall rod performance test in the MPTP-treated-mouse model of Parkinsonism
Highly Cited
1995
Highly Cited
1995
Reliability of Spike Timing in Neocortical Neurons
screen of the microscope. Between 150 to 300 nerve fibers were analyzed per cross section. 13. C. F. Eldridge, M. Bartlett, R. P… 
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