Results 191 to 200 of about 561,973 (252)
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Distal Myopathies

Neurologic Clinics, 2020
The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based.
openaire   +2 more sources

Sporadic distal myopathy

Journal of Neurology, 1981
The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.
Vaccario, Maria Luigia   +3 more
openaire   +3 more sources

Distal myopathies

Revue Neurologique, 2013
Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Myofibrillar and distal myopathies

Revue Neurologique, 2016
Distal myopathies and myofibrillar myopathies are both rare subcategories of muscle diseases. Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggregations and myofibrillar disintegration.
Udd Bjarne   +5 more
openaire   +2 more sources

Distal myopathy

Neurology, 1977
This report describes the clinical, laboratory, and muscle biopsy histochemical and electron microscopic studies of one inherited and two sporadic cases of distal myopathy. Histopathologic and histochemical studies showed numerous myopathic alterations and no significant evidence of denervation.
W R, Markesbery, R C, Griggs, B, Herr
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Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Neuromuscular Disorders, 2021
L. Sagath   +10 more
semanticscholar   +1 more source

[Distal myopathy].

Neurologia i neurochirurgia polska, 1986
A family with distal myopathy with early onset of the disease and autosomal dominant inheritance is reported. In EMG examination and in the histological examination of muscle features of nervous system involvement were found besides primarily muscular lesions. The character of the pathological changes in the muscles is discussed.
B, Badurska, A, Pfeffer-Baczuk
openaire   +1 more source

Distal myopathy due to TCAP variants in four unrelated Chinese patients

Neurogenetics, 2020
Xiaoqing Lv   +8 more
semanticscholar   +1 more source

Distal myopathy and thrombocytopenia due to a novel GNE mutation

Journal of Neurological Sciences, 2020
Pritikanta Paul, T. Liewluck
semanticscholar   +1 more source

Toolbox for Distal C–H Bond Functionalizations in Organic Molecules

Chemical Reviews, 2022
Srimanta Guin, Debabrata Maiti
exaly  

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