Results 71 to 80 of about 2,360,683 (193)

Myotonia congenita and myoadenylate deaminase deficiency: case report

Arquivos de Neuro-Psiquiatria, 2003
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance.
Scola Rosana Herminia, Iwamoto Fabio Massaiti, Camargo Carlos Henrique, Arruda Walter Oleschko, Werneck Lineu Cesar   +4 more
doaj  

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene. [PDF]

Cells, 2023
Zanotti S, Ripolone M, Napoli L, Velardo D, Salani S, Ciscato P, Priori S, Kukavica D, Mazzanti A, Diamanti L, Vegezzi E, Moggio M, Corti S, Comi G, Sciacco M.   +14 more
europepmc   +1 more source

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

, 2002
Judith N. Haslett, Despina Sanoudou, Alvin T. Kho, Richard Rodney Bennett, Steven A. Greenberg, Isaac S. Kohane, Alan H. Beggs, Louis M. Kunkel   +7 more
openalex   +1 more source

The cost of research: Lasting effects of capture, surgery and muscle biopsy on brown bear (<i>Ursus arctos</i>) movement and physiology. [PDF]

Anim Welf, 2023
Thiel A, Hertel AG, Giroud S, Friebe A, Fuchs B, Kindberg J, Græsli AR, Arnemo JM, Evans AL.   +8 more
europepmc   +1 more source

Congenital myopathies: A clinicopathological study of 25 cases

Indian Journal of Pathology and Microbiology, 2008
Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali, Sharma Mehar, Sarkar Chitra, Gulati Shefali, Kalra Veena, Singh Sumit, Bhatia Rohit   +6 more
doaj  

Contracture test and histologic and histochemical analyses of muscle biopsy specimens from horses with exertional rhabdomyolysis [PDF]

, 1990
S. V. HILDEBRAND, D. Arpin, George H. Cardinet   +2 more
openalex   +1 more source

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Cells
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo   +9 more
doaj   +1 more source

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy. [PDF]

Acta Neuropathol Commun, 2022
Ogasawara M, Eura N, Iida A, Kumutpongpanich T, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I.   +8 more
europepmc   +1 more source

105. VALUE OF MUSCLE BIOPSY IN ANCA-ASSOCIATED VASCULITIS: DIAGNOSTIC YIELD DEPENDS ON ANCA TYPE [PDF]

, 2019
Mathieu Lacou, Maxime Leroy, A. Espitia-Thibault, Claire Toquet, J. Graveleau, A. Masseau, C. Agard, Christelle Volteau, M. Hamidou, A. Néel   +9 more
openalex   +1 more source

An audit on muscle biopsies in a tertiary care centre in Sri Lanka

, 2022
G. S. S. Hegoda, L. D. S. De Silva, L. V. I. Ratnatunga, R. Waduge, T. R. D. S. K. Tennakoon   +4 more
openalex   +2 more sources