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HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 08/2019, Volume 28, Issue 15, pp. 2549 - 2560
Nemaline myopathy (NM) is the most common form of congenital myopathy that results in hypotonia and muscle weakness. This disease is clinically and genetically... 
KBTBD13 | N-RAP | PROTEIN | GENE | UBIQUITIN LIGASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | EXPRESSION | ALPHA-ACTININ | PARTNERS
Journal Article
ACTA NEUROPATHOLOGICA, ISSN 0001-6322, 03/2019, Volume 137, Issue 3, pp. 501 - 519
The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel... 
DOMAIN | ACTN2 | Alpha-actinin-2 | Z-DISC | Z-line | CYTOSKELETAL PROTEIN | Congenital myopathy | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | ALPHA-ACTININ | SKELETAL-MUSCLE | IN-VITRO | HYPERTROPHIC CARDIOMYOPATHY | Nemaline myopathy | Core myopathy | SARCOMERIC PROTEIN | BINDING | ALPHA-ACTININ-3 DEFICIENCY | Ethylenediaminetetraacetic acid | Muscles | Genetic aspects | Health aspects
Journal Article
NEUROLOGY-GENETICS, ISSN 2376-7839, 04/2019, Volume 5, Issue 2, p. e312
Objective To identify the genetic cause of disease in a form of congenital spinal muscular atrophy and arthrogryposis (CSMAA). Methods A 2-year-old boy was... 
GENE | CLINICAL NEUROLOGY | CATION CHANNEL | GENETICS & HEREDITY
Journal Article
01/1990
A new technique for the determination of the pore size distribution of molecular sieve materials was developed. The method employs the Dubinin-Radushkevich... 
Chemical engineering | Materials science
Dissertation
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