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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentIntegrative data mining highlights candidate genes for monogenic myopathies.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyOne family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.Impact of stroke unit in a public hospital on length of hospitalization and rate of early mortality of ischemic stroke patients.A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.Limb-girdle muscular dystrophy type 2A in Brazilian children.Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathyClinical aspects of patients with sarcoglycanopathies under steroids therapyClinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Osorio Abath Neto
@ast
Osorio Abath Neto
@en
Osorio Abath Neto
@es
Osorio Abath Neto
@nl
Osorio Abath Neto
@sl
type
label
Osorio Abath Neto
@ast
Osorio Abath Neto
@en
Osorio Abath Neto
@es
Osorio Abath Neto
@nl
Osorio Abath Neto
@sl
prefLabel
Osorio Abath Neto
@ast
Osorio Abath Neto
@en
Osorio Abath Neto
@es
Osorio Abath Neto
@nl
Osorio Abath Neto
@sl
P1053
H-1420-2017
P106
P31
P3829
P496
0000-0003-2787-5483