Results 111 to 120 of about 314,455 (204)

Toxic Myopathies

, 2014
Toxic myopathies are myopathies induced by drugs or toxins. This chapter discusses the clinical features and morphological, electrophysiological, and metabolic evidence of these myopathies.
Kuncl, Ralph W., Romano, G.
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Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1913
openaire   +2 more sources

Distal renal tubular acidosis developments in its diagnosis and pathophysiology [PDF]

, 2010
This thesis describes two groups of experiments, both relating to the condition of distal renal tubular acidosis (dRTA). In the first, an alternative diagnostic test of dRTA to the ‘gold standard’ short ammonium chloride (NH4Cl) test was assessed ...
Walsh, S.B.
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Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Myopathies associated with myosin heavy chain mutations

, 2004
Myosin, a molecular motor, converts chemical energy into mechanical force. The motor domain of myosin heavy chain (MyHC) includes an ATP binding region with ATPase activity and an actin-binding region. Motor function is achieved by conformational changes,
Oldfors, Anders,, Tajsharghi, Homa,, Darin, Niklas,, Lindberg, Christopher,   +3 more
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Analysis on clinical features of necrotizing autoimmune myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To investigate the clinical manifestations and auxiliary examination features of necrotizing autoimmune myopathy (NAM). Methods According to the inclusion criteria from European Neuromuscular Center (ENMC) International Workshop on ...
Yi LI, Jun FU, Ling-chao MENG, Wei ZHANG, Zhao-xia WANG, He LÜ, Yue-huan ZUO, Yun YUAN   +7 more
doaj  

Case of ? Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1926
openaire   +2 more sources

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies. [PDF]

J Neuromuscul Dis
Subbotin D, Borovikov A, Kuchina A, Sharkova I, Vlasenko A, Rudenskaya G, Nikitin S, Gilvanova O, Degterev D, Druzhinin D, Druzhinina E, Grishina D, Dadali E, Marakhonov A, Chausova P, Fomenko S, Ryzhkova O, Shchagina O, Kutsev S, Murtazina A.   +19 more
europepmc   +1 more source

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

, 2016
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation ...
Savarese, M, Santorelli, FM, Massa, R, Ruggiero, L, Messina, S, Broda, P, Mercuri, E, Tasca, G, Mora, M, Santoro, L, Italian Network on Congenital Myopathies, ., Cassandrini, D, Fiorillo, C, Morandi, L, Nigro, V, Petrucci, A, Bertini, E, Pane, M, Mongini, T, Vita, GL, Vercelli, L, Toscano, A, Pegoraro, E, Brisca, G, Gibertini, S, D'Amico, A, Trucco, F, Musumeci, O, Rodolico, C, Sframeli, M, Bruno, C, Maggi, L, Trovato, R, Astrea, G, Pedemonte, M, Grandis, M, Minetti, C, Fanin, M, Bello, L   +38 more
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