Results 211 to 220 of about 5,284 (245)
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Journal of Neuro-Ophthalmology, 1997
Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright +3 more
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Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright +3 more
openaire +2 more sources
Archives of Neurology, 1986
Fluorescent protease histochemical analysis of muscle biopsy specimens from two patients with nemaline myopathy revealed the apparent absence of one proteolytic enzyme, dipeptidyl peptidase. Although the function of peptidases in normal muscle is obscure, this abnormality suggests that proteases may participate in posttranslational modification of ...
W T, Stauber +4 more
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Fluorescent protease histochemical analysis of muscle biopsy specimens from two patients with nemaline myopathy revealed the apparent absence of one proteolytic enzyme, dipeptidyl peptidase. Although the function of peptidases in normal muscle is obscure, this abnormality suggests that proteases may participate in posttranslational modification of ...
W T, Stauber +4 more
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Mixed nemaline-mitochondrial ?myopathy?
Acta Neuropathologica, 1980A 4-year-old boy suffering from a nonprogressive muscular weakness had a muscle biopsy which ultrastructurally showed large aggregates of nemaline bodies and mitochondria in myofibers; occasional concentric lamellated bodies were present as well. The mitochondria were mostly at the periphery of collections of nemaline bodies, less commonly in their ...
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Abstract This chapter presents a 58-year-old woman with progressive weakness, dysphagia, and dyspnea, ultimately diagnosed with sporadic late-onset nemaline myopathy. She has a complex history that includes antiphospholipid antibody syndrome, pulmonary hypertension, monoclonal gammopathy, positive antinuclear antibody (ANA), and ...
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Immune-mediated necrotizing myopathy: clinical features and pathogenesis
Nature Reviews Rheumatology, 2020Yves Allenbach +2 more
exaly
CONGENITAL MYOPATHIES: NEMALINE MYOPATHIES
Neuromuscular Disorders, 2019J. Tinklenberg +16 more
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